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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs945508

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:156937289 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
T>A / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.427587 (153797/359686, ALFA)
T=0.326193 (86340/264690, TOPMED)
T=0.359186 (90198/251118, GnomAD_exome) (+ 26 more)
T=0.345944 (48437/140014, GnomAD)
T=0.360697 (43746/121282, ExAC)
T=0.22852 (17985/78702, PAGE_STUDY)
T=0.11948 (3376/28256, 14KJPN)
T=0.12375 (2074/16760, 8.3KJPN)
T=0.34968 (4548/13006, GO-ESP)
T=0.2383 (1526/6404, 1000G_30x)
T=0.2376 (1190/5008, 1000G)
C=0.4819 (2159/4480, Estonian)
T=0.4587 (1768/3854, ALSPAC)
T=0.4706 (1745/3708, TWINSUK)
T=0.1672 (490/2930, KOREAN)
T=0.2658 (554/2084, HGDP_Stanford)
T=0.2378 (450/1892, HapMap)
T=0.1747 (320/1832, Korea1K)
T=0.441 (440/998, GoNL)
T=0.149 (117/784, PRJEB37584)
T=0.154 (95/616, Vietnamese)
T=0.420 (252/600, NorthernSweden)
T=0.434 (232/534, MGP)
T=0.148 (76/512, SGDP_PRJ)
T=0.493 (150/304, FINRISK)
T=0.481 (104/216, Qatari)
C=0.46 (42/92, Ancient Sardinia)
T=0.24 (11/46, Siberian)
C=0.47 (19/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ARHGEF11 : Missense Variant
LRRC71 : Intron Variant
MIR765 : 2KB Upstream Variant
Publications
2 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 376166 T=0.424991 C=0.575009
European Sub 315022 T=0.453038 C=0.546962
African Sub 16550 T=0.16798 C=0.83202
African Others Sub 594 T=0.108 C=0.892
African American Sub 15956 T=0.17022 C=0.82978
Asian Sub 6916 T=0.1575 C=0.8425
East Asian Sub 4948 T=0.1589 C=0.8411
Other Asian Sub 1968 T=0.1540 C=0.8460
Latin American 1 Sub 1488 T=0.3488 C=0.6512
Latin American 2 Sub 7222 T=0.2670 C=0.7330
South Asian Sub 5224 T=0.3145 C=0.6855
Other Sub 23744 T=0.38709 C=0.61291


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 359686 T=0.427587 C=0.572413
Allele Frequency Aggregator European Sub 304828 T=0.452786 C=0.547214
Allele Frequency Aggregator Other Sub 22294 T=0.38652 C=0.61348
Allele Frequency Aggregator African Sub 11714 T=0.16894 C=0.83106
Allele Frequency Aggregator Latin American 2 Sub 7222 T=0.2670 C=0.7330
Allele Frequency Aggregator Asian Sub 6916 T=0.1575 C=0.8425
Allele Frequency Aggregator South Asian Sub 5224 T=0.3145 C=0.6855
Allele Frequency Aggregator Latin American 1 Sub 1488 T=0.3488 C=0.6512
TopMed Global Study-wide 264690 T=0.326193 C=0.673807
gnomAD - Exomes Global Study-wide 251118 T=0.359186 C=0.640814
gnomAD - Exomes European Sub 135146 T=0.452792 C=0.547208
gnomAD - Exomes Asian Sub 48988 T=0.23479 C=0.76521
gnomAD - Exomes American Sub 34562 T=0.25977 C=0.74023
gnomAD - Exomes African Sub 16236 T=0.14985 C=0.85015
gnomAD - Exomes Ashkenazi Jewish Sub 10058 T=0.36677 C=0.63323
gnomAD - Exomes Other Sub 6128 T=0.3921 C=0.6079
gnomAD - Genomes Global Study-wide 140014 T=0.345944 C=0.654056
gnomAD - Genomes European Sub 75824 T=0.45925 C=0.54075
gnomAD - Genomes African Sub 41940 T=0.16507 C=0.83493
gnomAD - Genomes American Sub 13646 T=0.31753 C=0.68247
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=0.3616 C=0.6384
gnomAD - Genomes East Asian Sub 3128 T=0.1346 C=0.8654
gnomAD - Genomes Other Sub 2152 T=0.3420 C=0.6580
ExAC Global Study-wide 121282 T=0.360697 C=0.639303
ExAC Europe Sub 73274 T=0.45002 C=0.54998
ExAC Asian Sub 25146 T=0.23821 C=0.76179
ExAC American Sub 11568 T=0.24594 C=0.75406
ExAC African Sub 10386 T=0.15222 C=0.84778
ExAC Other Sub 908 T=0.391 C=0.609
The PAGE Study Global Study-wide 78702 T=0.22852 C=0.77148
The PAGE Study AfricanAmerican Sub 32516 T=0.17210 C=0.82790
The PAGE Study Mexican Sub 10810 T=0.28039 C=0.71961
The PAGE Study Asian Sub 8318 T=0.1288 C=0.8712
The PAGE Study PuertoRican Sub 7918 T=0.3262 C=0.6738
The PAGE Study NativeHawaiian Sub 4534 T=0.3191 C=0.6809
The PAGE Study Cuban Sub 4230 T=0.3707 C=0.6293
The PAGE Study Dominican Sub 3828 T=0.2401 C=0.7599
The PAGE Study CentralAmerican Sub 2450 T=0.2449 C=0.7551
The PAGE Study SouthAmerican Sub 1982 T=0.2336 C=0.7664
The PAGE Study NativeAmerican Sub 1260 T=0.3817 C=0.6183
The PAGE Study SouthAsian Sub 856 T=0.264 C=0.736
14KJPN JAPANESE Study-wide 28256 T=0.11948 C=0.88052
8.3KJPN JAPANESE Study-wide 16760 T=0.12375 C=0.87625
GO Exome Sequencing Project Global Study-wide 13006 T=0.34968 C=0.65032
GO Exome Sequencing Project European American Sub 8600 T=0.4469 C=0.5531
GO Exome Sequencing Project African American Sub 4406 T=0.1600 C=0.8400
1000Genomes_30x Global Study-wide 6404 T=0.2383 C=0.7617
1000Genomes_30x African Sub 1786 T=0.1081 C=0.8919
1000Genomes_30x Europe Sub 1266 T=0.4518 C=0.5482
1000Genomes_30x South Asian Sub 1202 T=0.2546 C=0.7454
1000Genomes_30x East Asian Sub 1170 T=0.1479 C=0.8521
1000Genomes_30x American Sub 980 T=0.288 C=0.712
1000Genomes Global Study-wide 5008 T=0.2376 C=0.7624
1000Genomes African Sub 1322 T=0.1120 C=0.8880
1000Genomes East Asian Sub 1008 T=0.1488 C=0.8512
1000Genomes Europe Sub 1006 T=0.4483 C=0.5517
1000Genomes South Asian Sub 978 T=0.255 C=0.745
1000Genomes American Sub 694 T=0.277 C=0.723
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.5181 C=0.4819
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.4587 C=0.5413
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.4706 C=0.5294
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.1672 A=0.0000, C=0.8328
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.2658 C=0.7342
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.151 C=0.849
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.350 C=0.650
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.426 C=0.574
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.456 C=0.544
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.066 C=0.934
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.093 C=0.907
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.10 C=0.90
HapMap Global Study-wide 1892 T=0.2378 C=0.7622
HapMap American Sub 770 T=0.309 C=0.691
HapMap African Sub 692 T=0.147 C=0.853
HapMap Asian Sub 254 T=0.150 C=0.850
HapMap Europe Sub 176 T=0.409 C=0.591
Korean Genome Project KOREAN Study-wide 1832 T=0.1747 C=0.8253
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.441 C=0.559
CNV burdens in cranial meningiomas Global Study-wide 784 T=0.149 C=0.851
CNV burdens in cranial meningiomas CRM Sub 784 T=0.149 C=0.851
A Vietnamese Genetic Variation Database Global Study-wide 616 T=0.154 C=0.846
Northern Sweden ACPOP Study-wide 600 T=0.420 C=0.580
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.434 C=0.566
SGDP_PRJ Global Study-wide 512 T=0.148 C=0.852
FINRISK Finnish from FINRISK project Study-wide 304 T=0.493 C=0.507
Qatari Global Study-wide 216 T=0.481 C=0.519
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 92 T=0.54 C=0.46
Siberian Global Study-wide 46 T=0.24 C=0.76
The Danish reference pan genome Danish Study-wide 40 T=0.53 C=0.47
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 1 NC_000001.11:g.156937289T>A
GRCh38.p14 chr 1 NC_000001.11:g.156937289T>C
GRCh37.p13 chr 1 NC_000001.10:g.156907081T>A
GRCh37.p13 chr 1 NC_000001.10:g.156907081T>C
Gene: LRRC71, leucine rich repeat containing 71 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LRRC71 transcript NM_144702.3:c. N/A Genic Downstream Transcript Variant
LRRC71 transcript variant X8 XM_017000459.3:c.1330-376…

XM_017000459.3:c.1330-3766T>A

 		N/A Intron Variant
LRRC71 transcript variant X1 XM_005244926.4:c. N/A Genic Downstream Transcript Variant
LRRC71 transcript variant X6 XM_005244927.4:c. N/A Genic Downstream Transcript Variant
LRRC71 transcript variant X7 XM_005244928.3:c. N/A Genic Downstream Transcript Variant
LRRC71 transcript variant X2 XM_006711185.4:c. N/A Genic Downstream Transcript Variant
LRRC71 transcript variant X4 XM_006711186.4:c. N/A Genic Downstream Transcript Variant
LRRC71 transcript variant X5 XM_006711187.4:c. N/A Genic Downstream Transcript Variant
LRRC71 transcript variant X9 XM_011509239.3:c. N/A Genic Downstream Transcript Variant
LRRC71 transcript variant X12 XM_011509240.4:c. N/A Genic Downstream Transcript Variant
LRRC71 transcript variant X13 XM_011509241.3:c. N/A Genic Downstream Transcript Variant
LRRC71 transcript variant X11 XM_017000462.3:c. N/A Genic Downstream Transcript Variant
LRRC71 transcript variant X3 XM_047447397.1:c. N/A Genic Downstream Transcript Variant
LRRC71 transcript variant X10 XM_047447415.1:c. N/A Genic Downstream Transcript Variant
LRRC71 transcript variant X14 XM_047447420.1:c. N/A Genic Downstream Transcript Variant
LRRC71 transcript variant X15 XM_047447421.1:c. N/A Genic Downstream Transcript Variant
LRRC71 transcript variant X16 XR_241072.3:n. N/A Genic Downstream Transcript Variant
Gene: ARHGEF11, Rho guanine nucleotide exchange factor 11 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ARHGEF11 transcript variant 1 NM_014784.4:c.4280A>T H [CAT] > L [CTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform 1 NP_055599.1:p.His1427Leu H (His) > L (Leu) Missense Variant
ARHGEF11 transcript variant 1 NM_014784.4:c.4280A>G H [CAT] > R [CGT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform 1 NP_055599.1:p.His1427Arg H (His) > R (Arg) Missense Variant
ARHGEF11 transcript variant 2 NM_198236.3:c.4400A>T H [CAT] > L [CTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform 2 NP_937879.1:p.His1467Leu H (His) > L (Leu) Missense Variant
ARHGEF11 transcript variant 2 NM_198236.3:c.4400A>G H [CAT] > R [CGT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform 2 NP_937879.1:p.His1467Arg H (His) > R (Arg) Missense Variant
ARHGEF11 transcript variant 4 NM_001377419.1:c.4370A>T H [CAT] > L [CTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform 4 NP_001364348.1:p.His1457L…

NP_001364348.1:p.His1457Leu

 		H (His) > L (Leu) Missense Variant
ARHGEF11 transcript variant 4 NM_001377419.1:c.4370A>G H [CAT] > R [CGT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform 4 NP_001364348.1:p.His1457A…

NP_001364348.1:p.His1457Arg

 		H (His) > R (Arg) Missense Variant
ARHGEF11 transcript variant 3 NM_001377418.1:c.4391A>T H [CAT] > L [CTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform 3 NP_001364347.1:p.His1464L…

NP_001364347.1:p.His1464Leu

 		H (His) > L (Leu) Missense Variant
ARHGEF11 transcript variant 3 NM_001377418.1:c.4391A>G H [CAT] > R [CGT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform 3 NP_001364347.1:p.His1464A…

NP_001364347.1:p.His1464Arg

 		H (His) > R (Arg) Missense Variant
ARHGEF11 transcript variant X1 XM_006711659.4:c.4451A>T H [CAT] > L [CTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X1 XP_006711722.1:p.His1484L…

XP_006711722.1:p.His1484Leu

 		H (His) > L (Leu) Missense Variant
ARHGEF11 transcript variant X1 XM_006711659.4:c.4451A>G H [CAT] > R [CGT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X1 XP_006711722.1:p.His1484A…

XP_006711722.1:p.His1484Arg

 		H (His) > R (Arg) Missense Variant
ARHGEF11 transcript variant X2 XM_006711660.5:c.4448A>T H [CAT] > L [CTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X2 XP_006711723.1:p.His1483L…

XP_006711723.1:p.His1483Leu

 		H (His) > L (Leu) Missense Variant
ARHGEF11 transcript variant X2 XM_006711660.5:c.4448A>G H [CAT] > R [CGT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X2 XP_006711723.1:p.His1483A…

XP_006711723.1:p.His1483Arg

 		H (His) > R (Arg) Missense Variant
ARHGEF11 transcript variant X3 XM_011510185.4:c.4436A>T H [CAT] > L [CTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X3 XP_011508487.1:p.His1479L…

XP_011508487.1:p.His1479Leu

 		H (His) > L (Leu) Missense Variant
ARHGEF11 transcript variant X3 XM_011510185.4:c.4436A>G H [CAT] > R [CGT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X3 XP_011508487.1:p.His1479A…

XP_011508487.1:p.His1479Arg

 		H (His) > R (Arg) Missense Variant
ARHGEF11 transcript variant X4 XM_006711661.4:c.4421A>T H [CAT] > L [CTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X4 XP_006711724.1:p.His1474L…

XP_006711724.1:p.His1474Leu

 		H (His) > L (Leu) Missense Variant
ARHGEF11 transcript variant X4 XM_006711661.4:c.4421A>G H [CAT] > R [CGT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X4 XP_006711724.1:p.His1474A…

XP_006711724.1:p.His1474Arg

 		H (His) > R (Arg) Missense Variant
ARHGEF11 transcript variant X5 XM_006711662.4:c.4418A>T H [CAT] > L [CTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X5 XP_006711725.1:p.His1473L…

XP_006711725.1:p.His1473Leu

 		H (His) > L (Leu) Missense Variant
ARHGEF11 transcript variant X5 XM_006711662.4:c.4418A>G H [CAT] > R [CGT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X5 XP_006711725.1:p.His1473A…

XP_006711725.1:p.His1473Arg

 		H (His) > R (Arg) Missense Variant
ARHGEF11 transcript variant X6 XM_017002920.3:c.4418A>T H [CAT] > L [CTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X6 XP_016858409.1:p.His1473L…

XP_016858409.1:p.His1473Leu

 		H (His) > L (Leu) Missense Variant
ARHGEF11 transcript variant X6 XM_017002920.3:c.4418A>G H [CAT] > R [CGT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X6 XP_016858409.1:p.His1473A…

XP_016858409.1:p.His1473Arg

 		H (His) > R (Arg) Missense Variant
ARHGEF11 transcript variant X7 XM_047435262.1:c.4403A>T H [CAT] > L [CTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X7 XP_047291218.1:p.His1468L…

XP_047291218.1:p.His1468Leu

 		H (His) > L (Leu) Missense Variant
ARHGEF11 transcript variant X7 XM_047435262.1:c.4403A>G H [CAT] > R [CGT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X7 XP_047291218.1:p.His1468A…

XP_047291218.1:p.His1468Arg

 		H (His) > R (Arg) Missense Variant
ARHGEF11 transcript variant X8 XM_005245629.6:c.4403A>T H [CAT] > L [CTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X8 XP_005245686.1:p.His1468L…

XP_005245686.1:p.His1468Leu

 		H (His) > L (Leu) Missense Variant
ARHGEF11 transcript variant X8 XM_005245629.6:c.4403A>G H [CAT] > R [CGT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X8 XP_005245686.1:p.His1468A…

XP_005245686.1:p.His1468Arg

 		H (His) > R (Arg) Missense Variant
ARHGEF11 transcript variant X9 XM_011510186.4:c.4331A>T H [CAT] > L [CTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X9 XP_011508488.1:p.His1444L…

XP_011508488.1:p.His1444Leu

 		H (His) > L (Leu) Missense Variant
ARHGEF11 transcript variant X9 XM_011510186.4:c.4331A>G H [CAT] > R [CGT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X9 XP_011508488.1:p.His1444A…

XP_011508488.1:p.His1444Arg

 		H (His) > R (Arg) Missense Variant
ARHGEF11 transcript variant X10 XM_006711665.5:c.4328A>T H [CAT] > L [CTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X10 XP_006711728.1:p.His1443L…

XP_006711728.1:p.His1443Leu

 		H (His) > L (Leu) Missense Variant
ARHGEF11 transcript variant X10 XM_006711665.5:c.4328A>G H [CAT] > R [CGT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X10 XP_006711728.1:p.His1443A…

XP_006711728.1:p.His1443Arg

 		H (His) > R (Arg) Missense Variant
ARHGEF11 transcript variant X11 XM_047435284.1:c.4307A>T H [CAT] > L [CTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X11 XP_047291240.1:p.His1436L…

XP_047291240.1:p.His1436Leu

 		H (His) > L (Leu) Missense Variant
ARHGEF11 transcript variant X11 XM_047435284.1:c.4307A>G H [CAT] > R [CGT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X11 XP_047291240.1:p.His1436A…

XP_047291240.1:p.His1436Arg

 		H (His) > R (Arg) Missense Variant
ARHGEF11 transcript variant X12 XM_047435285.1:c.4304A>T H [CAT] > L [CTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X12 XP_047291241.1:p.His1435L…

XP_047291241.1:p.His1435Leu

 		H (His) > L (Leu) Missense Variant
ARHGEF11 transcript variant X12 XM_047435285.1:c.4304A>G H [CAT] > R [CGT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X12 XP_047291241.1:p.His1435A…

XP_047291241.1:p.His1435Arg

 		H (His) > R (Arg) Missense Variant
ARHGEF11 transcript variant X13 XM_017002922.3:c.4298A>T H [CAT] > L [CTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X13 XP_016858411.1:p.His1433L…

XP_016858411.1:p.His1433Leu

 		H (His) > L (Leu) Missense Variant
ARHGEF11 transcript variant X13 XM_017002922.3:c.4298A>G H [CAT] > R [CGT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X13 XP_016858411.1:p.His1433A…

XP_016858411.1:p.His1433Arg

 		H (His) > R (Arg) Missense Variant
ARHGEF11 transcript variant X14 XM_047435294.1:c.4292A>T H [CAT] > L [CTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X14 XP_047291250.1:p.His1431L…

XP_047291250.1:p.His1431Leu

 		H (His) > L (Leu) Missense Variant
ARHGEF11 transcript variant X14 XM_047435294.1:c.4292A>G H [CAT] > R [CGT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X14 XP_047291250.1:p.His1431A…

XP_047291250.1:p.His1431Arg

 		H (His) > R (Arg) Missense Variant
ARHGEF11 transcript variant X15 XM_017002924.3:c.4283A>T H [CAT] > L [CTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X15 XP_016858413.1:p.His1428L…

XP_016858413.1:p.His1428Leu

 		H (His) > L (Leu) Missense Variant
ARHGEF11 transcript variant X15 XM_017002924.3:c.4283A>G H [CAT] > R [CGT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X15 XP_016858413.1:p.His1428A…

XP_016858413.1:p.His1428Arg

 		H (His) > R (Arg) Missense Variant
ARHGEF11 transcript variant X16 XM_017002923.3:c.4283A>T H [CAT] > L [CTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X16 XP_016858412.1:p.His1428L…

XP_016858412.1:p.His1428Leu

 		H (His) > L (Leu) Missense Variant
ARHGEF11 transcript variant X16 XM_017002923.3:c.4283A>G H [CAT] > R [CGT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X16 XP_016858412.1:p.His1428A…

XP_016858412.1:p.His1428Arg

 		H (His) > R (Arg) Missense Variant
ARHGEF11 transcript variant X17 XM_047435300.1:c.4274A>T H [CAT] > L [CTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X17 XP_047291256.1:p.His1425L…

XP_047291256.1:p.His1425Leu

 		H (His) > L (Leu) Missense Variant
ARHGEF11 transcript variant X17 XM_047435300.1:c.4274A>G H [CAT] > R [CGT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X17 XP_047291256.1:p.His1425A…

XP_047291256.1:p.His1425Arg

 		H (His) > R (Arg) Missense Variant
ARHGEF11 transcript variant X18 XM_047435301.1:c.4271A>T H [CAT] > L [CTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X18 XP_047291257.1:p.His1424L…

XP_047291257.1:p.His1424Leu

 		H (His) > L (Leu) Missense Variant
ARHGEF11 transcript variant X18 XM_047435301.1:c.4271A>G H [CAT] > R [CGT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X18 XP_047291257.1:p.His1424A…

XP_047291257.1:p.His1424Arg

 		H (His) > R (Arg) Missense Variant
ARHGEF11 transcript variant X19 XM_047435306.1:c.4184A>T H [CAT] > L [CTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X19 XP_047291262.1:p.His1395L…

XP_047291262.1:p.His1395Leu

 		H (His) > L (Leu) Missense Variant
ARHGEF11 transcript variant X19 XM_047435306.1:c.4184A>G H [CAT] > R [CGT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X19 XP_047291262.1:p.His1395A…

XP_047291262.1:p.His1395Arg

 		H (His) > R (Arg) Missense Variant
ARHGEF11 transcript variant X20 XM_011510187.4:c.4169A>T H [CAT] > L [CTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X20 XP_011508489.1:p.His1390L…

XP_011508489.1:p.His1390Leu

 		H (His) > L (Leu) Missense Variant
ARHGEF11 transcript variant X20 XM_011510187.4:c.4169A>G H [CAT] > R [CGT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X20 XP_011508489.1:p.His1390A…

XP_011508489.1:p.His1390Arg

 		H (His) > R (Arg) Missense Variant
ARHGEF11 transcript variant X21 XM_005245633.5:c.3137A>T H [CAT] > L [CTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X21 XP_005245690.1:p.His1046L…

XP_005245690.1:p.His1046Leu

 		H (His) > L (Leu) Missense Variant
ARHGEF11 transcript variant X21 XM_005245633.5:c.3137A>G H [CAT] > R [CGT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X21 XP_005245690.1:p.His1046A…

XP_005245690.1:p.His1046Arg

 		H (His) > R (Arg) Missense Variant
ARHGEF11 transcript variant X22 XM_011510189.4:c.2549A>T H [CAT] > L [CTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X22 XP_011508491.1:p.His850Leu H (His) > L (Leu) Missense Variant
ARHGEF11 transcript variant X22 XM_011510189.4:c.2549A>G H [CAT] > R [CGT] Coding Sequence Variant
rho guanine nucleotide exchange factor 11 isoform X22 XP_011508491.1:p.His850Arg H (His) > R (Arg) Missense Variant
Gene: MIR765, microRNA 765 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
MIR765 transcript NR_030527.1:n. N/A Upstream Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement T= A C
GRCh38.p14 chr 1 NC_000001.11:g.156937289= NC_000001.11:g.156937289T>A NC_000001.11:g.156937289T>C
GRCh37.p13 chr 1 NC_000001.10:g.156907081= NC_000001.10:g.156907081T>A NC_000001.10:g.156907081T>C
ARHGEF11 transcript variant X8 XM_005245629.6:c.4403= XM_005245629.6:c.4403A>T XM_005245629.6:c.4403A>G
ARHGEF11 transcript variant X7 XM_005245629.5:c.4403= XM_005245629.5:c.4403A>T XM_005245629.5:c.4403A>G
ARHGEF11 transcript variant X7 XM_005245629.4:c.4403= XM_005245629.4:c.4403A>T XM_005245629.4:c.4403A>G
ARHGEF11 transcript variant X6 XM_005245629.3:c.4403= XM_005245629.3:c.4403A>T XM_005245629.3:c.4403A>G
ARHGEF11 transcript variant X1 XM_005245629.2:c.4403= XM_005245629.2:c.4403A>T XM_005245629.2:c.4403A>G
ARHGEF11 transcript variant X1 XM_005245629.1:c.4403= XM_005245629.1:c.4403A>T XM_005245629.1:c.4403A>G
ARHGEF11 transcript variant X2 XM_006711660.5:c.4448= XM_006711660.5:c.4448A>T XM_006711660.5:c.4448A>G
ARHGEF11 transcript variant X2 XM_006711660.4:c.4448= XM_006711660.4:c.4448A>T XM_006711660.4:c.4448A>G
ARHGEF11 transcript variant X2 XM_006711660.3:c.4448= XM_006711660.3:c.4448A>T XM_006711660.3:c.4448A>G
ARHGEF11 transcript variant X2 XM_006711660.2:c.4448= XM_006711660.2:c.4448A>T XM_006711660.2:c.4448A>G
ARHGEF11 transcript variant X7 XM_006711660.1:c.4448= XM_006711660.1:c.4448A>T XM_006711660.1:c.4448A>G
ARHGEF11 transcript variant X10 XM_006711665.5:c.4328= XM_006711665.5:c.4328A>T XM_006711665.5:c.4328A>G
ARHGEF11 transcript variant X11 XM_006711665.4:c.4328= XM_006711665.4:c.4328A>T XM_006711665.4:c.4328A>G
ARHGEF11 transcript variant X11 XM_006711665.3:c.4328= XM_006711665.3:c.4328A>T XM_006711665.3:c.4328A>G
ARHGEF11 transcript variant X10 XM_006711665.2:c.4328= XM_006711665.2:c.4328A>T XM_006711665.2:c.4328A>G
ARHGEF11 transcript variant X12 XM_006711665.1:c.4328= XM_006711665.1:c.4328A>T XM_006711665.1:c.4328A>G
ARHGEF11 transcript variant X21 XM_005245633.5:c.3137= XM_005245633.5:c.3137A>T XM_005245633.5:c.3137A>G
ARHGEF11 transcript variant X16 XM_005245633.4:c.3137= XM_005245633.4:c.3137A>T XM_005245633.4:c.3137A>G
ARHGEF11 transcript variant X13 XM_005245633.3:c.3137= XM_005245633.3:c.3137A>T XM_005245633.3:c.3137A>G
ARHGEF11 transcript variant X5 XM_005245633.2:c.3137= XM_005245633.2:c.3137A>T XM_005245633.2:c.3137A>G
ARHGEF11 transcript variant X5 XM_005245633.1:c.3137= XM_005245633.1:c.3137A>T XM_005245633.1:c.3137A>G
ARHGEF11 transcript variant X1 XM_006711659.4:c.4451= XM_006711659.4:c.4451A>T XM_006711659.4:c.4451A>G
ARHGEF11 transcript variant X1 XM_006711659.3:c.4451= XM_006711659.3:c.4451A>T XM_006711659.3:c.4451A>G
ARHGEF11 transcript variant X1 XM_006711659.2:c.4451= XM_006711659.2:c.4451A>T XM_006711659.2:c.4451A>G
ARHGEF11 transcript variant X1 XM_006711659.1:c.4451= XM_006711659.1:c.4451A>T XM_006711659.1:c.4451A>G
ARHGEF11 transcript variant X3 XM_011510185.4:c.4436= XM_011510185.4:c.4436A>T XM_011510185.4:c.4436A>G
ARHGEF11 transcript variant X3 XM_011510185.3:c.4436= XM_011510185.3:c.4436A>T XM_011510185.3:c.4436A>G
ARHGEF11 transcript variant X3 XM_011510185.2:c.4436= XM_011510185.2:c.4436A>T XM_011510185.2:c.4436A>G
ARHGEF11 transcript variant X3 XM_011510185.1:c.4436= XM_011510185.1:c.4436A>T XM_011510185.1:c.4436A>G
ARHGEF11 transcript variant X4 XM_006711661.4:c.4421= XM_006711661.4:c.4421A>T XM_006711661.4:c.4421A>G
ARHGEF11 transcript variant X4 XM_006711661.3:c.4421= XM_006711661.3:c.4421A>T XM_006711661.3:c.4421A>G
ARHGEF11 transcript variant X4 XM_006711661.2:c.4421= XM_006711661.2:c.4421A>T XM_006711661.2:c.4421A>G
ARHGEF11 transcript variant X4 XM_006711661.1:c.4421= XM_006711661.1:c.4421A>T XM_006711661.1:c.4421A>G
ARHGEF11 transcript variant X5 XM_006711662.4:c.4418= XM_006711662.4:c.4418A>T XM_006711662.4:c.4418A>G
ARHGEF11 transcript variant X6 XM_006711662.3:c.4418= XM_006711662.3:c.4418A>T XM_006711662.3:c.4418A>G
ARHGEF11 transcript variant X6 XM_006711662.2:c.4418= XM_006711662.2:c.4418A>T XM_006711662.2:c.4418A>G
ARHGEF11 transcript variant X5 XM_006711662.1:c.4418= XM_006711662.1:c.4418A>T XM_006711662.1:c.4418A>G
ARHGEF11 transcript variant X9 XM_011510186.4:c.4331= XM_011510186.4:c.4331A>T XM_011510186.4:c.4331A>G
ARHGEF11 transcript variant X10 XM_011510186.3:c.4331= XM_011510186.3:c.4331A>T XM_011510186.3:c.4331A>G
ARHGEF11 transcript variant X10 XM_011510186.2:c.4331= XM_011510186.2:c.4331A>T XM_011510186.2:c.4331A>G
ARHGEF11 transcript variant X9 XM_011510186.1:c.4331= XM_011510186.1:c.4331A>T XM_011510186.1:c.4331A>G
ARHGEF11 transcript variant 1 NM_014784.4:c.4280= NM_014784.4:c.4280A>T NM_014784.4:c.4280A>G
ARHGEF11 transcript variant 1 NM_014784.3:c.4280= NM_014784.3:c.4280A>T NM_014784.3:c.4280A>G
ARHGEF11 transcript variant X20 XM_011510187.4:c.4169= XM_011510187.4:c.4169A>T XM_011510187.4:c.4169A>G
ARHGEF11 transcript variant X15 XM_011510187.3:c.4169= XM_011510187.3:c.4169A>T XM_011510187.3:c.4169A>G
ARHGEF11 transcript variant X15 XM_011510187.2:c.4169= XM_011510187.2:c.4169A>T XM_011510187.2:c.4169A>G
ARHGEF11 transcript variant X11 XM_011510187.1:c.4169= XM_011510187.1:c.4169A>T XM_011510187.1:c.4169A>G
ARHGEF11 transcript variant X22 XM_011510189.4:c.2549= XM_011510189.4:c.2549A>T XM_011510189.4:c.2549A>G
ARHGEF11 transcript variant X17 XM_011510189.3:c.2549= XM_011510189.3:c.2549A>T XM_011510189.3:c.2549A>G
ARHGEF11 transcript variant X17 XM_011510189.2:c.2549= XM_011510189.2:c.2549A>T XM_011510189.2:c.2549A>G
ARHGEF11 transcript variant X14 XM_011510189.1:c.2549= XM_011510189.1:c.2549A>T XM_011510189.1:c.2549A>G
ARHGEF11 transcript variant X6 XM_017002920.3:c.4418= XM_017002920.3:c.4418A>T XM_017002920.3:c.4418A>G
ARHGEF11 transcript variant X5 XM_017002920.2:c.4418= XM_017002920.2:c.4418A>T XM_017002920.2:c.4418A>G
ARHGEF11 transcript variant X5 XM_017002920.1:c.4418= XM_017002920.1:c.4418A>T XM_017002920.1:c.4418A>G
ARHGEF11 transcript variant 2 NM_198236.3:c.4400= NM_198236.3:c.4400A>T NM_198236.3:c.4400A>G
ARHGEF11 transcript variant 2 NM_198236.2:c.4400= NM_198236.2:c.4400A>T NM_198236.2:c.4400A>G
ARHGEF11 transcript variant X13 XM_017002922.3:c.4298= XM_017002922.3:c.4298A>T XM_017002922.3:c.4298A>G
ARHGEF11 transcript variant X12 XM_017002922.2:c.4298= XM_017002922.2:c.4298A>T XM_017002922.2:c.4298A>G
ARHGEF11 transcript variant X12 XM_017002922.1:c.4298= XM_017002922.1:c.4298A>T XM_017002922.1:c.4298A>G
ARHGEF11 transcript variant X15 XM_017002924.3:c.4283= XM_017002924.3:c.4283A>T XM_017002924.3:c.4283A>G
ARHGEF11 transcript variant X14 XM_017002924.2:c.4283= XM_017002924.2:c.4283A>T XM_017002924.2:c.4283A>G
ARHGEF11 transcript variant X14 XM_017002924.1:c.4283= XM_017002924.1:c.4283A>T XM_017002924.1:c.4283A>G
ARHGEF11 transcript variant X16 XM_017002923.3:c.4283= XM_017002923.3:c.4283A>T XM_017002923.3:c.4283A>G
ARHGEF11 transcript variant X13 XM_017002923.2:c.4283= XM_017002923.2:c.4283A>T XM_017002923.2:c.4283A>G
ARHGEF11 transcript variant X13 XM_017002923.1:c.4283= XM_017002923.1:c.4283A>T XM_017002923.1:c.4283A>G
ARHGEF11 transcript variant X7 XM_047435262.1:c.4403= XM_047435262.1:c.4403A>T XM_047435262.1:c.4403A>G
ARHGEF11 transcript variant 4 NM_001377419.1:c.4370= NM_001377419.1:c.4370A>T NM_001377419.1:c.4370A>G
ARHGEF11 transcript variant X11 XM_047435284.1:c.4307= XM_047435284.1:c.4307A>T XM_047435284.1:c.4307A>G
ARHGEF11 transcript variant X12 XM_047435285.1:c.4304= XM_047435285.1:c.4304A>T XM_047435285.1:c.4304A>G
ARHGEF11 transcript variant X17 XM_047435300.1:c.4274= XM_047435300.1:c.4274A>T XM_047435300.1:c.4274A>G
ARHGEF11 transcript variant X19 XM_047435306.1:c.4184= XM_047435306.1:c.4184A>T XM_047435306.1:c.4184A>G
ARHGEF11 transcript variant 3 NM_001377418.1:c.4391= NM_001377418.1:c.4391A>T NM_001377418.1:c.4391A>G
ARHGEF11 transcript variant X14 XM_047435294.1:c.4292= XM_047435294.1:c.4292A>T XM_047435294.1:c.4292A>G
ARHGEF11 transcript variant X18 XM_047435301.1:c.4271= XM_047435301.1:c.4271A>T XM_047435301.1:c.4271A>G
rho guanine nucleotide exchange factor 11 isoform X8 XP_005245686.1:p.His1468= XP_005245686.1:p.His1468Leu XP_005245686.1:p.His1468Arg
rho guanine nucleotide exchange factor 11 isoform X2 XP_006711723.1:p.His1483= XP_006711723.1:p.His1483Leu XP_006711723.1:p.His1483Arg
rho guanine nucleotide exchange factor 11 isoform X10 XP_006711728.1:p.His1443= XP_006711728.1:p.His1443Leu XP_006711728.1:p.His1443Arg
rho guanine nucleotide exchange factor 11 isoform X21 XP_005245690.1:p.His1046= XP_005245690.1:p.His1046Leu XP_005245690.1:p.His1046Arg
rho guanine nucleotide exchange factor 11 isoform X1 XP_006711722.1:p.His1484= XP_006711722.1:p.His1484Leu XP_006711722.1:p.His1484Arg
rho guanine nucleotide exchange factor 11 isoform X3 XP_011508487.1:p.His1479= XP_011508487.1:p.His1479Leu XP_011508487.1:p.His1479Arg
rho guanine nucleotide exchange factor 11 isoform X4 XP_006711724.1:p.His1474= XP_006711724.1:p.His1474Leu XP_006711724.1:p.His1474Arg
rho guanine nucleotide exchange factor 11 isoform X5 XP_006711725.1:p.His1473= XP_006711725.1:p.His1473Leu XP_006711725.1:p.His1473Arg
rho guanine nucleotide exchange factor 11 isoform X9 XP_011508488.1:p.His1444= XP_011508488.1:p.His1444Leu XP_011508488.1:p.His1444Arg
rho guanine nucleotide exchange factor 11 isoform 1 NP_055599.1:p.His1427= NP_055599.1:p.His1427Leu NP_055599.1:p.His1427Arg
rho guanine nucleotide exchange factor 11 isoform X20 XP_011508489.1:p.His1390= XP_011508489.1:p.His1390Leu XP_011508489.1:p.His1390Arg
rho guanine nucleotide exchange factor 11 isoform X22 XP_011508491.1:p.His850= XP_011508491.1:p.His850Leu XP_011508491.1:p.His850Arg
rho guanine nucleotide exchange factor 11 isoform X6 XP_016858409.1:p.His1473= XP_016858409.1:p.His1473Leu XP_016858409.1:p.His1473Arg
rho guanine nucleotide exchange factor 11 isoform 2 NP_937879.1:p.His1467= NP_937879.1:p.His1467Leu NP_937879.1:p.His1467Arg
rho guanine nucleotide exchange factor 11 isoform X13 XP_016858411.1:p.His1433= XP_016858411.1:p.His1433Leu XP_016858411.1:p.His1433Arg
rho guanine nucleotide exchange factor 11 isoform X15 XP_016858413.1:p.His1428= XP_016858413.1:p.His1428Leu XP_016858413.1:p.His1428Arg
rho guanine nucleotide exchange factor 11 isoform X16 XP_016858412.1:p.His1428= XP_016858412.1:p.His1428Leu XP_016858412.1:p.His1428Arg
rho guanine nucleotide exchange factor 11 isoform X7 XP_047291218.1:p.His1468= XP_047291218.1:p.His1468Leu XP_047291218.1:p.His1468Arg
rho guanine nucleotide exchange factor 11 isoform 4 NP_001364348.1:p.His1457= NP_001364348.1:p.His1457Leu NP_001364348.1:p.His1457Arg
rho guanine nucleotide exchange factor 11 isoform X11 XP_047291240.1:p.His1436= XP_047291240.1:p.His1436Leu XP_047291240.1:p.His1436Arg
rho guanine nucleotide exchange factor 11 isoform X12 XP_047291241.1:p.His1435= XP_047291241.1:p.His1435Leu XP_047291241.1:p.His1435Arg
rho guanine nucleotide exchange factor 11 isoform X17 XP_047291256.1:p.His1425= XP_047291256.1:p.His1425Leu XP_047291256.1:p.His1425Arg
rho guanine nucleotide exchange factor 11 isoform X19 XP_047291262.1:p.His1395= XP_047291262.1:p.His1395Leu XP_047291262.1:p.His1395Arg
rho guanine nucleotide exchange factor 11 isoform 3 NP_001364347.1:p.His1464= NP_001364347.1:p.His1464Leu NP_001364347.1:p.His1464Arg
rho guanine nucleotide exchange factor 11 isoform X14 XP_047291250.1:p.His1431= XP_047291250.1:p.His1431Leu XP_047291250.1:p.His1431Arg
rho guanine nucleotide exchange factor 11 isoform X18 XP_047291257.1:p.His1424= XP_047291257.1:p.His1424Leu XP_047291257.1:p.His1424Arg
LRRC71 transcript variant X8 XM_017000459.3:c.1330-3766= XM_017000459.3:c.1330-3766T>A XM_017000459.3:c.1330-3766T>C
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

185 SubSNP, 29 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss1387162 Oct 05, 2000 (86)
2 SC_JCM ss5851163 Feb 20, 2003 (111)
3 CSHL-HAPMAP ss17334060 Feb 27, 2004 (120)
4 CSHL-HAPMAP ss19106155 Feb 27, 2004 (120)
5 APPLERA_GI ss48429081 Mar 14, 2006 (126)
6 ILLUMINA ss65730080 Oct 14, 2006 (127)
7 ILLUMINA ss66821833 Nov 30, 2006 (127)
8 ILLUMINA ss67919079 Nov 30, 2006 (127)
9 ILLUMINA ss68043632 Nov 30, 2006 (127)
10 PERLEGEN ss68780870 May 17, 2007 (127)
11 ILLUMINA ss71608292 May 17, 2007 (127)
12 ILLUMINA ss75814904 Dec 06, 2007 (129)
13 HGSV ss77525130 Dec 06, 2007 (129)
14 HGSV ss79000618 Dec 06, 2007 (129)
15 ILLUMINA ss79296854 Dec 14, 2007 (130)
16 KRIBB_YJKIM ss83625282 Dec 14, 2007 (130)
17 HGSV ss85454644 Dec 14, 2007 (130)
18 CANCER-GENOME ss86342122 Mar 23, 2008 (129)
19 BCMHGSC_JDW ss87828512 Mar 23, 2008 (129)
20 ILLUMINA ss98260602 May 23, 2008 (130)
21 HUMANGENOME_JCVI ss99251958 Feb 04, 2009 (130)
22 BGI ss106602874 Feb 04, 2009 (130)
23 1000GENOMES ss108608446 Jan 23, 2009 (130)
24 1000GENOMES ss111173811 Jan 25, 2009 (130)
25 ILLUMINA-UK ss119038045 Feb 15, 2009 (130)
26 ILLUMINA ss122994706 Dec 01, 2009 (131)
27 ENSEMBL ss131696959 Dec 01, 2009 (131)
28 ENSEMBL ss138085428 Dec 01, 2009 (131)
29 ILLUMINA ss154494648 Dec 01, 2009 (131)
30 GMI ss155768404 Dec 01, 2009 (131)
31 ILLUMINA ss159668662 Dec 01, 2009 (131)
32 SEATTLESEQ ss159699197 Dec 01, 2009 (131)
33 ILLUMINA ss160988354 Dec 01, 2009 (131)
34 COMPLETE_GENOMICS ss164148397 Jul 04, 2010 (132)
35 COMPLETE_GENOMICS ss165243144 Jul 04, 2010 (132)
36 COMPLETE_GENOMICS ss167146523 Jul 04, 2010 (132)
37 ILLUMINA ss172466174 Jul 04, 2010 (132)
38 ILLUMINA ss174844765 Jul 04, 2010 (132)
39 BUSHMAN ss199102701 Jul 04, 2010 (132)
40 BCM-HGSC-SUB ss205323877 Jul 04, 2010 (132)
41 1000GENOMES ss218657263 Jul 14, 2010 (132)
42 1000GENOMES ss230736274 Jul 14, 2010 (132)
43 1000GENOMES ss238383018 Jul 15, 2010 (132)
44 BL ss253519476 May 09, 2011 (134)
45 GMI ss276055569 May 04, 2012 (137)
46 GMI ss284154625 Apr 25, 2013 (138)
47 PJP ss290639401 May 09, 2011 (134)
48 NHLBI-ESP ss342001421 May 09, 2011 (134)
49 ILLUMINA ss481903196 May 04, 2012 (137)
50 ILLUMINA ss481936307 May 04, 2012 (137)
51 ILLUMINA ss482893526 Sep 08, 2015 (146)
52 ILLUMINA ss485745558 May 04, 2012 (137)
53 1000GENOMES ss489770011 May 04, 2012 (137)
54 EXOME_CHIP ss491303387 May 04, 2012 (137)
55 CLINSEQ_SNP ss491606468 May 04, 2012 (137)
56 ILLUMINA ss537599774 Sep 11, 2015 (146)
57 TISHKOFF ss554720037 Apr 25, 2013 (138)
58 SSMP ss648422485 Apr 25, 2013 (138)
59 ILLUMINA ss779010615 Sep 08, 2015 (146)
60 ILLUMINA ss780702511 Aug 21, 2014 (142)
61 ILLUMINA ss783318559 Sep 08, 2015 (146)
62 ILLUMINA ss783376843 Aug 21, 2014 (142)
63 ILLUMINA ss784270514 Sep 08, 2015 (146)
64 ILLUMINA ss825627372 Apr 01, 2015 (144)
65 ILLUMINA ss832580118 Sep 08, 2015 (146)
66 ILLUMINA ss833179407 Jul 12, 2019 (153)
67 ILLUMINA ss834473081 Sep 08, 2015 (146)
68 JMKIDD_LAB ss974437596 Aug 21, 2014 (142)
69 EVA-GONL ss975696831 Aug 21, 2014 (142)
70 JMKIDD_LAB ss1067427170 Aug 21, 2014 (142)
71 JMKIDD_LAB ss1068278366 Aug 21, 2014 (142)
72 1000GENOMES ss1292985840 Aug 21, 2014 (142)
73 DDI ss1425982213 Apr 01, 2015 (144)
74 EVA_GENOME_DK ss1574399433 Apr 01, 2015 (144)
75 EVA_FINRISK ss1584011829 Apr 01, 2015 (144)
76 EVA_DECODE ss1585079045 Apr 01, 2015 (144)
77 EVA_UK10K_ALSPAC ss1601244365 Apr 01, 2015 (144)
78 EVA_UK10K_TWINSUK ss1644238398 Apr 01, 2015 (144)
79 EVA_EXAC ss1685844418 Apr 01, 2015 (144)
80 EVA_MGP ss1710927345 Apr 01, 2015 (144)
81 EVA_SVP ss1712371993 Apr 01, 2015 (144)
82 ILLUMINA ss1751873842 Sep 08, 2015 (146)
83 ILLUMINA ss1751873843 Sep 08, 2015 (146)
84 HAMMER_LAB ss1795109287 Sep 08, 2015 (146)
85 ILLUMINA ss1917736191 Feb 12, 2016 (147)
86 WEILL_CORNELL_DGM ss1918930584 Feb 12, 2016 (147)
87 ILLUMINA ss1946010640 Feb 12, 2016 (147)
88 ILLUMINA ss1958320469 Feb 12, 2016 (147)
89 GENOMED ss1966869878 Jul 19, 2016 (147)
90 JJLAB ss2019980195 Sep 14, 2016 (149)
91 CSHL ss2136844781 Nov 08, 2017 (151)
92 USC_VALOUEV ss2148006221 Dec 20, 2016 (150)
93 HUMAN_LONGEVITY ss2166668078 Dec 20, 2016 (150)
94 SYSTEMSBIOZJU ss2624497980 Nov 08, 2017 (151)
95 ILLUMINA ss2632577982 Nov 08, 2017 (151)
96 ILLUMINA ss2635003495 Nov 08, 2017 (151)
97 GRF ss2697978888 Nov 08, 2017 (151)
98 GNOMAD ss2731953715 Nov 08, 2017 (151)
99 GNOMAD ss2746467901 Nov 08, 2017 (151)
100 GNOMAD ss2761501219 Nov 08, 2017 (151)
101 AFFY ss2984880731 Nov 08, 2017 (151)
102 AFFY ss2985525827 Nov 08, 2017 (151)
103 SWEGEN ss2987777278 Nov 08, 2017 (151)
104 ILLUMINA ss3021139098 Nov 08, 2017 (151)
105 EVA_SAMSUNG_MC ss3023057252 Nov 08, 2017 (151)
106 BIOINF_KMB_FNS_UNIBA ss3023746899 Nov 08, 2017 (151)
107 CSHL ss3343716388 Nov 08, 2017 (151)
108 ILLUMINA ss3626212708 Oct 11, 2018 (152)
109 ILLUMINA ss3626212709 Oct 11, 2018 (152)
110 ILLUMINA ss3630610747 Oct 11, 2018 (152)
111 ILLUMINA ss3633605962 Oct 11, 2018 (152)
112 ILLUMINA ss3634351398 Oct 11, 2018 (152)
113 ILLUMINA ss3634351399 Oct 11, 2018 (152)
114 ILLUMINA ss3635299398 Oct 11, 2018 (152)
115 ILLUMINA ss3636030443 Oct 11, 2018 (152)
116 ILLUMINA ss3637049892 Oct 11, 2018 (152)
117 ILLUMINA ss3637788616 Oct 11, 2018 (152)
118 ILLUMINA ss3638910871 Oct 11, 2018 (152)
119 ILLUMINA ss3639453664 Oct 11, 2018 (152)
120 ILLUMINA ss3640058752 Oct 11, 2018 (152)
121 ILLUMINA ss3640058753 Oct 11, 2018 (152)
122 ILLUMINA ss3642797778 Oct 11, 2018 (152)
123 ILLUMINA ss3644506599 Oct 11, 2018 (152)
124 OMUKHERJEE_ADBS ss3646246796 Oct 11, 2018 (152)
125 URBANLAB ss3646793942 Oct 11, 2018 (152)
126 ILLUMINA ss3651474218 Oct 11, 2018 (152)
127 ILLUMINA ss3653649987 Oct 11, 2018 (152)
128 EGCUT_WGS ss3655716436 Jul 12, 2019 (153)
129 EVA_DECODE ss3687813154 Jul 12, 2019 (153)
130 ILLUMINA ss3725067909 Jul 12, 2019 (153)
131 ACPOP ss3727497074 Jul 12, 2019 (153)
132 ILLUMINA ss3744353475 Jul 12, 2019 (153)
133 ILLUMINA ss3744652303 Jul 12, 2019 (153)
134 ILLUMINA ss3744652304 Jul 12, 2019 (153)
135 EVA ss3746825512 Jul 12, 2019 (153)
136 PAGE_CC ss3770843034 Jul 12, 2019 (153)
137 ILLUMINA ss3772153397 Jul 12, 2019 (153)
138 ILLUMINA ss3772153398 Jul 12, 2019 (153)
139 PACBIO ss3783570348 Jul 12, 2019 (153)
140 PACBIO ss3789200908 Jul 12, 2019 (153)
141 PACBIO ss3794072908 Jul 12, 2019 (153)
142 KHV_HUMAN_GENOMES ss3799824998 Jul 12, 2019 (153)
143 EVA ss3823670793 Apr 25, 2020 (154)
144 EVA ss3825518592 Apr 25, 2020 (154)
145 EVA ss3825535619 Apr 25, 2020 (154)
146 EVA ss3825577235 Apr 25, 2020 (154)
147 EVA ss3826430816 Apr 25, 2020 (154)
148 EVA ss3836609986 Apr 25, 2020 (154)
149 EVA ss3842019284 Apr 25, 2020 (154)
150 HGDP ss3847349829 Apr 25, 2020 (154)
151 SGDP_PRJ ss3850035988 Apr 25, 2020 (154)
152 KRGDB ss3895253357 Apr 25, 2020 (154)
153 KOGIC ss3945687364 Apr 25, 2020 (154)
154 FSA-LAB ss3983948934 Apr 25, 2021 (155)
155 FSA-LAB ss3983948935 Apr 25, 2021 (155)
156 EVA ss3984465082 Apr 25, 2021 (155)
157 EVA ss3984826187 Apr 25, 2021 (155)
158 EVA ss3986013373 Apr 25, 2021 (155)
159 EVA ss3986141473 Apr 25, 2021 (155)
160 EVA ss4016939048 Apr 25, 2021 (155)
161 TOPMED ss4468868409 Apr 25, 2021 (155)
162 TOMMO_GENOMICS ss5146561095 Apr 25, 2021 (155)
163 EVA ss5236874369 Apr 25, 2021 (155)
164 EVA ss5237164272 Apr 25, 2021 (155)
165 EVA ss5237633067 Oct 12, 2022 (156)
166 1000G_HIGH_COVERAGE ss5244346258 Oct 12, 2022 (156)
167 EVA ss5314652070 Oct 12, 2022 (156)
168 EVA ss5322149610 Oct 12, 2022 (156)
169 HUGCELL_USP ss5444933146 Oct 12, 2022 (156)
170 1000G_HIGH_COVERAGE ss5517700966 Oct 12, 2022 (156)
171 EVA ss5623916782 Oct 12, 2022 (156)
172 EVA ss5623998344 Oct 12, 2022 (156)
173 SANFORD_IMAGENETICS ss5626619359 Oct 12, 2022 (156)
174 TOMMO_GENOMICS ss5673783910 Oct 12, 2022 (156)
175 EVA ss5799499255 Oct 12, 2022 (156)
176 EVA ss5800086217 Oct 12, 2022 (156)
177 YY_MCH ss5801272090 Oct 12, 2022 (156)
178 EVA ss5832685081 Oct 12, 2022 (156)
179 EVA ss5847557766 Oct 12, 2022 (156)
180 EVA ss5848274317 Oct 12, 2022 (156)
181 EVA ss5849113493 Oct 12, 2022 (156)
182 EVA ss5910305074 Oct 12, 2022 (156)
183 EVA ss5938413988 Oct 12, 2022 (156)
184 EVA ss5979991252 Oct 12, 2022 (156)
185 EVA ss5981197794 Oct 12, 2022 (156)
186 1000Genomes NC_000001.10 - 156907081 Oct 11, 2018 (152)
187 1000Genomes_30x NC_000001.11 - 156937289 Oct 12, 2022 (156)
188 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 156907081 Oct 11, 2018 (152)
189 Genetic variation in the Estonian population NC_000001.10 - 156907081 Oct 11, 2018 (152)
190 ExAC NC_000001.10 - 156907081 Oct 11, 2018 (152)
191 FINRISK NC_000001.10 - 156907081 Apr 25, 2020 (154)
192 The Danish reference pan genome NC_000001.10 - 156907081 Apr 25, 2020 (154)
193 gnomAD - Genomes NC_000001.11 - 156937289 Apr 25, 2021 (155)
194 gnomAD - Exomes NC_000001.10 - 156907081 Jul 12, 2019 (153)
195 GO Exome Sequencing Project NC_000001.10 - 156907081 Oct 11, 2018 (152)
196 Genome of the Netherlands Release 5 NC_000001.10 - 156907081 Apr 25, 2020 (154)
197 HGDP-CEPH-db Supplement 1 NC_000001.9 - 155173705 Apr 25, 2020 (154)
198 HapMap NC_000001.11 - 156937289 Apr 25, 2020 (154)
199 KOREAN population from KRGDB NC_000001.10 - 156907081 Apr 25, 2020 (154)
200 Korean Genome Project NC_000001.11 - 156937289 Apr 25, 2020 (154)
201 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 156907081 Apr 25, 2020 (154)
202 Northern Sweden NC_000001.10 - 156907081 Jul 12, 2019 (153)
203 The PAGE Study NC_000001.11 - 156937289 Jul 12, 2019 (153)
204 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 156907081 Apr 25, 2021 (155)
205 CNV burdens in cranial meningiomas NC_000001.10 - 156907081 Apr 25, 2021 (155)
206 Qatari NC_000001.10 - 156907081 Apr 25, 2020 (154)
207 SGDP_PRJ NC_000001.10 - 156907081 Apr 25, 2020 (154)
208 Siberian NC_000001.10 - 156907081 Apr 25, 2020 (154)
209 8.3KJPN NC_000001.10 - 156907081 Apr 25, 2021 (155)
210 14KJPN NC_000001.11 - 156937289 Oct 12, 2022 (156)
211 TopMed NC_000001.11 - 156937289 Apr 25, 2021 (155)
212 UK 10K study - Twins NC_000001.10 - 156907081 Oct 11, 2018 (152)
213 A Vietnamese Genetic Variation Database NC_000001.10 - 156907081 Jul 12, 2019 (153)
214 ALFA NC_000001.11 - 156937289 Apr 25, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs57261442 May 23, 2008 (130)
rs386622704 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
2430751, ss3895253357 NC_000001.10:156907080:T:A NC_000001.11:156937288:T:A (self)
ss77525130, ss79000618, ss85454644, ss3638910871, ss3639453664 NC_000001.8:153720153:T:C NC_000001.11:156937288:T:C (self)
27721, ss87828512, ss108608446, ss111173811, ss119038045, ss164148397, ss165243144, ss167146523, ss199102701, ss205323877, ss253519476, ss276055569, ss284154625, ss290639401, ss481903196, ss491606468, ss825627372, ss1585079045, ss1712371993, ss2136844781, ss2635003495, ss3642797778, ss3847349829 NC_000001.9:155173704:T:C NC_000001.11:156937288:T:C (self)
3779973, 2054961, 1454684, 5065806, 8290, 1713101, 977544, 129372, 891436, 2430751, 44097, 781939, 52114, 14398, 972514, 2052968, 522575, 4530402, 2054961, 439984, ss218657263, ss230736274, ss238383018, ss342001421, ss481936307, ss482893526, ss485745558, ss489770011, ss491303387, ss537599774, ss554720037, ss648422485, ss779010615, ss780702511, ss783318559, ss783376843, ss784270514, ss832580118, ss833179407, ss834473081, ss974437596, ss975696831, ss1067427170, ss1068278366, ss1292985840, ss1425982213, ss1574399433, ss1584011829, ss1601244365, ss1644238398, ss1685844418, ss1710927345, ss1751873842, ss1751873843, ss1795109287, ss1917736191, ss1918930584, ss1946010640, ss1958320469, ss1966869878, ss2019980195, ss2148006221, ss2624497980, ss2632577982, ss2697978888, ss2731953715, ss2746467901, ss2761501219, ss2984880731, ss2985525827, ss2987777278, ss3021139098, ss3023057252, ss3343716388, ss3626212708, ss3626212709, ss3630610747, ss3633605962, ss3634351398, ss3634351399, ss3635299398, ss3636030443, ss3637049892, ss3637788616, ss3640058752, ss3640058753, ss3644506599, ss3646246796, ss3651474218, ss3653649987, ss3655716436, ss3727497074, ss3744353475, ss3744652303, ss3744652304, ss3746825512, ss3772153397, ss3772153398, ss3783570348, ss3789200908, ss3794072908, ss3823670793, ss3825518592, ss3825535619, ss3825577235, ss3826430816, ss3836609986, ss3850035988, ss3895253357, ss3983948934, ss3983948935, ss3984465082, ss3984826187, ss3986013373, ss3986141473, ss4016939048, ss5146561095, ss5314652070, ss5322149610, ss5623916782, ss5623998344, ss5626619359, ss5799499255, ss5800086217, ss5832685081, ss5847557766, ss5848274317, ss5938413988, ss5979991252, ss5981197794 NC_000001.10:156907080:T:C NC_000001.11:156937288:T:C (self)
5226901, 27528517, 178845, 2065365, 64503, 7621014, 32474744, 6616767477, ss2166668078, ss3023746899, ss3646793942, ss3687813154, ss3725067909, ss3770843034, ss3799824998, ss3842019284, ss3945687364, ss4468868409, ss5236874369, ss5237164272, ss5237633067, ss5244346258, ss5444933146, ss5517700966, ss5673783910, ss5801272090, ss5849113493, ss5910305074 NC_000001.11:156937288:T:C NC_000001.11:156937288:T:C (self)
ss1387162, ss5851163, ss48429081, ss65730080, ss66821833, ss67919079, ss68043632, ss68780870, ss71608292, ss75814904, ss79296854, ss83625282, ss86342122, ss98260602, ss99251958, ss106602874, ss122994706, ss131696959, ss138085428, ss154494648, ss155768404, ss159668662, ss159699197, ss160988354, ss172466174, ss174844765 NT_004487.19:8395722:T:C NC_000001.11:156937288:T:C (self)
ss17334060, ss19106155 NT_079484.1:3356912:T:C NC_000001.11:156937288:T:C (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

2 citations for rs945508
PMID Title Author Year Journal
22923468 Contribution of common genetic variation to the risk of type 2 diabetes in the Mexican Mestizo population. Gamboa-Meléndez MA et al. 2012 Diabetes
28554271 Genetic variants and clinical relevance associated with gestational diabetes mellitus in Chinese women: a case-control study. Yan J et al. 2018 The journal of maternal-fetal & neonatal medicine
Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top▲ Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post761+d5e8e07