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dbSNP Short Genetic Variations

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.

rs35497285

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:17587627 (GRCh38.p13) 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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.074869 (19817/264690, TOPMED)
A=0.097564 (24354/249622, GnomAD_exome)
A=0.091623 (21433/233926, ALFA) (+ 22 more)
A=0.070371 (9867/140214, GnomAD)
A=0.096190 (11543/120002, ExAC)
A=0.07986 (6285/78698, PAGE_STUDY)
A=0.20889 (3501/16760, 8.3KJPN)
A=0.06197 (806/13006, GO-ESP)
A=0.0927 (464/5008, 1000G)
A=0.1056 (473/4480, Estonian)
A=0.0864 (333/3854, ALSPAC)
A=0.0914 (339/3708, TWINSUK)
A=0.2020 (592/2930, KOREAN)
A=0.2047 (375/1832, Korea1K)
A=0.107 (107/998, GoNL)
A=0.197 (152/770, PRJEB37584)
A=0.137 (82/600, NorthernSweden)
A=0.069 (37/534, MGP)
A=0.125 (38/304, FINRISK)
A=0.019 (4/216, Qatari)
A=0.150 (32/214, Vietnamese)
G=0.45 (39/86, SGDP_PRJ)
A=0.15 (6/40, GENOME_DK)
G=0.5 (3/6, Siberian)
A=0.5 (3/6, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ARHGEF10L : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 1 NC_000001.11:g.17587627G>A
GRCh37.p13 chr 1 NC_000001.10:g.17914122G>A
ARHGEF10L RefSeqGene NG_050860.1:g.72431G>A
Gene: ARHGEF10L, Rho guanine nucleotide exchange factor 10 like (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ARHGEF10L transcript variant 4 NM_001319838.1:c. N/A Genic Upstream Transcript Variant
ARHGEF10L transcript variant 5 NM_001328124.1:c. N/A Genic Upstream Transcript Variant
ARHGEF10L transcript variant 2 NM_001011722.2:c.205G>A D [GAC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 2 NP_001011722.2:p.Asp69Asn D (Asp) > N (Asn) Missense Variant
ARHGEF10L transcript variant 3 NM_001319837.1:c.205G>A D [GAC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 3 NP_001306766.1:p.Asp69Asn D (Asp) > N (Asn) Missense Variant
ARHGEF10L transcript variant 1 NM_018125.4:c.205G>A D [GAC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 1 NP_060595.3:p.Asp69Asn D (Asp) > N (Asn) Missense Variant
ARHGEF10L transcript variant 6 NR_137287.2:n.501G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant 7 NR_137288.2:n.501G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X15 XM_005245929.3:c. N/A Genic Upstream Transcript Variant
ARHGEF10L transcript variant X16 XM_017001618.1:c. N/A Genic Upstream Transcript Variant
ARHGEF10L transcript variant X2 XM_005245923.2:c.205G>A D [GAC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_005245980.2:p.Asp69Asn D (Asp) > N (Asn) Missense Variant
ARHGEF10L transcript variant X1 XM_006710728.1:c.205G>A D [GAC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_006710791.1:p.Asp69Asn D (Asp) > N (Asn) Missense Variant
ARHGEF10L transcript variant X7 XM_006710729.1:c.205G>A D [GAC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710792.1:p.Asp69Asn D (Asp) > N (Asn) Missense Variant
ARHGEF10L transcript variant X6 XM_006710731.1:c.205G>A D [GAC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710794.1:p.Asp69Asn D (Asp) > N (Asn) Missense Variant
ARHGEF10L transcript variant X9 XM_005245925.2:c.205G>A D [GAC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X4 XP_005245982.2:p.Asp69Asn D (Asp) > N (Asn) Missense Variant
ARHGEF10L transcript variant X8 XM_011541691.2:c.205G>A D [GAC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X3 XP_011539993.1:p.Asp69Asn D (Asp) > N (Asn) Missense Variant
ARHGEF10L transcript variant X10 XM_011541692.2:c.205G>A D [GAC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X5 XP_011539994.1:p.Asp69Asn D (Asp) > N (Asn) Missense Variant
ARHGEF10L transcript variant X11 XM_011541693.2:c.205G>A D [GAC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X6 XP_011539995.1:p.Asp69Asn D (Asp) > N (Asn) Missense Variant
ARHGEF10L transcript variant X12 XM_017001617.1:c.205G>A D [GAC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X7 XP_016857106.1:p.Asp69Asn D (Asp) > N (Asn) Missense Variant
ARHGEF10L transcript variant X17 XM_017001619.1:c.205G>A D [GAC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X10 XP_016857108.1:p.Asp69Asn D (Asp) > N (Asn) Missense Variant
ARHGEF10L transcript variant X18 XM_017001620.1:c.205G>A D [GAC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X11 XP_016857109.1:p.Asp69Asn D (Asp) > N (Asn) Missense Variant
ARHGEF10L transcript variant X26 XM_017001621.1:c.205G>A D [GAC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X12 XP_016857110.1:p.Asp69Asn D (Asp) > N (Asn) Missense Variant
ARHGEF10L transcript variant X27 XM_017001622.1:c.205G>A D [GAC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X13 XP_016857111.1:p.Asp69Asn D (Asp) > N (Asn) Missense Variant
ARHGEF10L transcript variant X3 XM_024448059.1:c.205G>A D [GAC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303827.1:p.Asp69Asn D (Asp) > N (Asn) Missense Variant
ARHGEF10L transcript variant X4 XM_024448061.1:c.205G>A D [GAC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303829.1:p.Asp69Asn D (Asp) > N (Asn) Missense Variant
ARHGEF10L transcript variant X5 XM_024448062.1:c.205G>A D [GAC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303830.1:p.Asp69Asn D (Asp) > N (Asn) Missense Variant
ARHGEF10L transcript variant X14 XR_001737276.1:n.347G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X19 XR_001737277.1:n.334G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X20 XR_946688.2:n.334G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X21 XR_946689.2:n.334G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X22 XR_946690.2:n.347G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X24 XR_946691.2:n.334G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X13 XR_946686.3:n.334G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X23 XR_002956988.1:n.334G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X25 XR_002956989.1:n.334G>A N/A Non Coding 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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 233926 G=0.908377 A=0.091623
European Sub 194250 G=0.910656 A=0.089344
African Sub 6958 G=0.9776 A=0.0224
African Others Sub 242 G=1.000 A=0.000
African American Sub 6716 G=0.9768 A=0.0232
Asian Sub 6656 G=0.8000 A=0.2000
East Asian Sub 4770 G=0.8061 A=0.1939
Other Asian Sub 1886 G=0.7847 A=0.2153
Latin American 1 Sub 1218 G=0.9319 A=0.0681
Latin American 2 Sub 5262 G=0.8824 A=0.1176
South Asian Sub 344 G=0.919 A=0.081
Other Sub 19238 G=0.90326 A=0.09674


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
TopMed Global Study-wide 264690 G=0.925131 A=0.074869
gnomAD - Exomes Global Study-wide 249622 G=0.902436 A=0.097564
gnomAD - Exomes European Sub 134234 G=0.906745 A=0.093255
gnomAD - Exomes Asian Sub 48804 G=0.87690 A=0.12310
gnomAD - Exomes American Sub 34300 G=0.87569 A=0.12431
gnomAD - Exomes African Sub 16236 G=0.98516 A=0.01484
gnomAD - Exomes Ashkenazi Jewish Sub 9974 G=0.9250 A=0.0750
gnomAD - Exomes Other Sub 6074 G=0.9053 A=0.0947
Allele Frequency Aggregator Total Global 233926 G=0.908377 A=0.091623
Allele Frequency Aggregator European Sub 194250 G=0.910656 A=0.089344
Allele Frequency Aggregator Other Sub 19238 G=0.90326 A=0.09674
Allele Frequency Aggregator African Sub 6958 G=0.9776 A=0.0224
Allele Frequency Aggregator Asian Sub 6656 G=0.8000 A=0.2000
Allele Frequency Aggregator Latin American 2 Sub 5262 G=0.8824 A=0.1176
Allele Frequency Aggregator Latin American 1 Sub 1218 G=0.9319 A=0.0681
Allele Frequency Aggregator South Asian Sub 344 G=0.919 A=0.081
gnomAD - Genomes Global Study-wide 140214 G=0.929629 A=0.070371
gnomAD - Genomes European Sub 75932 G=0.91207 A=0.08793
gnomAD - Genomes African Sub 42038 G=0.98306 A=0.01694
gnomAD - Genomes American Sub 13652 G=0.89291 A=0.10709
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.9223 A=0.0777
gnomAD - Genomes East Asian Sub 3124 G=0.8131 A=0.1869
gnomAD - Genomes Other Sub 2146 G=0.9189 A=0.0811
ExAC Global Study-wide 120002 G=0.903810 A=0.096190
ExAC Europe Sub 72896 G=0.90604 A=0.09396
ExAC Asian Sub 24286 G=0.87462 A=0.12538
ExAC American Sub 11566 G=0.87723 A=0.12277
ExAC African Sub 10356 G=0.98542 A=0.01458
ExAC Other Sub 898 G=0.913 A=0.087
The PAGE Study Global Study-wide 78698 G=0.92014 A=0.07986
The PAGE Study AfricanAmerican Sub 32514 G=0.98145 A=0.01855
The PAGE Study Mexican Sub 10810 G=0.87845 A=0.12155
The PAGE Study Asian Sub 8318 G=0.7978 A=0.2022
The PAGE Study PuertoRican Sub 7918 G=0.9065 A=0.0935
The PAGE Study NativeHawaiian Sub 4534 G=0.8542 A=0.1458
The PAGE Study Cuban Sub 4228 G=0.9111 A=0.0889
The PAGE Study Dominican Sub 3828 G=0.9441 A=0.0559
The PAGE Study CentralAmerican Sub 2450 G=0.8869 A=0.1131
The PAGE Study SouthAmerican Sub 1982 G=0.8845 A=0.1155
The PAGE Study NativeAmerican Sub 1260 G=0.9071 A=0.0929
The PAGE Study SouthAsian Sub 856 G=0.916 A=0.084
8.3KJPN JAPANESE Study-wide 16760 G=0.79111 A=0.20889
GO Exome Sequencing Project Global Study-wide 13006 G=0.93803 A=0.06197
GO Exome Sequencing Project European American Sub 8600 G=0.9155 A=0.0845
GO Exome Sequencing Project African American Sub 4406 G=0.9821 A=0.0179
1000Genomes Global Study-wide 5008 G=0.9073 A=0.0927
1000Genomes African Sub 1322 G=0.9962 A=0.0038
1000Genomes East Asian Sub 1008 G=0.7956 A=0.2044
1000Genomes Europe Sub 1006 G=0.9165 A=0.0835
1000Genomes South Asian Sub 978 G=0.914 A=0.086
1000Genomes American Sub 694 G=0.878 A=0.122
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.8944 A=0.1056
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9136 A=0.0864
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9086 A=0.0914
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.7980 A=0.2020
Korean Genome Project KOREAN Study-wide 1832 G=0.7953 A=0.2047
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.893 A=0.107
CNV burdens in cranial meningiomas Global Study-wide 770 G=0.803 A=0.197
CNV burdens in cranial meningiomas CRM Sub 770 G=0.803 A=0.197
Northern Sweden ACPOP Study-wide 600 G=0.863 A=0.137
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.931 A=0.069
FINRISK Finnish from FINRISK project Study-wide 304 G=0.875 A=0.125
Qatari Global Study-wide 216 G=0.981 A=0.019
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.850 A=0.150
SGDP_PRJ Global Study-wide 86 G=0.45 A=0.55
The Danish reference pan genome Danish Study-wide 40 G=0.85 A=0.15
Siberian Global Study-wide 6 G=0.5 A=0.5
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 G= A
GRCh38.p13 chr 1 NC_000001.11:g.17587627= NC_000001.11:g.17587627G>A
GRCh37.p13 chr 1 NC_000001.10:g.17914122= NC_000001.10:g.17914122G>A
ARHGEF10L RefSeqGene NG_050860.1:g.72431= NG_050860.1:g.72431G>A
ARHGEF10L transcript variant 1 NM_018125.4:c.205= NM_018125.4:c.205G>A
ARHGEF10L transcript variant 1 NM_018125.3:c.205= NM_018125.3:c.205G>A
ARHGEF10L transcript variant 6 NR_137287.2:n.501= NR_137287.2:n.501G>A
ARHGEF10L transcript variant 6 NR_137287.1:n.364= NR_137287.1:n.364G>A
ARHGEF10L transcript variant 7 NR_137288.2:n.501= NR_137288.2:n.501G>A
ARHGEF10L transcript variant 7 NR_137288.1:n.364= NR_137288.1:n.364G>A
ARHGEF10L transcript variant 2 NM_001011722.2:c.205= NM_001011722.2:c.205G>A
ARHGEF10L transcript variant 3 NM_001319837.1:c.205= NM_001319837.1:c.205G>A
ARHGEF10L transcript variant X13 XR_946686.3:n.334= XR_946686.3:n.334G>A
ARHGEF10L transcript variant X2 XM_005245923.2:c.205= XM_005245923.2:c.205G>A
ARHGEF10L transcript variant X3 XM_005245923.1:c.205= XM_005245923.1:c.205G>A
ARHGEF10L transcript variant X8 XM_011541691.2:c.205= XM_011541691.2:c.205G>A
ARHGEF10L transcript variant X10 XM_011541692.2:c.205= XM_011541692.2:c.205G>A
ARHGEF10L transcript variant X9 XM_005245925.2:c.205= XM_005245925.2:c.205G>A
ARHGEF10L transcript variant X5 XM_005245925.1:c.205= XM_005245925.1:c.205G>A
ARHGEF10L transcript variant X11 XM_011541693.2:c.205= XM_011541693.2:c.205G>A
ARHGEF10L transcript variant X22 XR_946690.2:n.347= XR_946690.2:n.347G>A
ARHGEF10L transcript variant X20 XR_946688.2:n.334= XR_946688.2:n.334G>A
ARHGEF10L transcript variant X21 XR_946689.2:n.334= XR_946689.2:n.334G>A
ARHGEF10L transcript variant X24 XR_946691.2:n.334= XR_946691.2:n.334G>A
ARHGEF10L transcript variant X17 XM_017001619.1:c.205= XM_017001619.1:c.205G>A
ARHGEF10L transcript variant X18 XM_017001620.1:c.205= XM_017001620.1:c.205G>A
ARHGEF10L transcript variant X23 XR_002956988.1:n.334= XR_002956988.1:n.334G>A
ARHGEF10L transcript variant X25 XR_002956989.1:n.334= XR_002956989.1:n.334G>A
ARHGEF10L transcript variant X1 XM_006710728.1:c.205= XM_006710728.1:c.205G>A
ARHGEF10L transcript variant X6 XM_006710731.1:c.205= XM_006710731.1:c.205G>A
ARHGEF10L transcript variant X26 XM_017001621.1:c.205= XM_017001621.1:c.205G>A
ARHGEF10L transcript variant X27 XM_017001622.1:c.205= XM_017001622.1:c.205G>A
ARHGEF10L transcript variant X3 XM_024448059.1:c.205= XM_024448059.1:c.205G>A
ARHGEF10L transcript variant X4 XM_024448061.1:c.205= XM_024448061.1:c.205G>A
ARHGEF10L transcript variant X7 XM_006710729.1:c.205= XM_006710729.1:c.205G>A
ARHGEF10L transcript variant X12 XM_017001617.1:c.205= XM_017001617.1:c.205G>A
ARHGEF10L transcript variant X5 XM_024448062.1:c.205= XM_024448062.1:c.205G>A
ARHGEF10L transcript variant X19 XR_001737277.1:n.334= XR_001737277.1:n.334G>A
ARHGEF10L transcript variant X14 XR_001737276.1:n.347= XR_001737276.1:n.347G>A
rho guanine nucleotide exchange factor 10-like protein isoform 1 NP_060595.3:p.Asp69= NP_060595.3:p.Asp69Asn
rho guanine nucleotide exchange factor 10-like protein isoform 2 NP_001011722.2:p.Asp69= NP_001011722.2:p.Asp69Asn
rho guanine nucleotide exchange factor 10-like protein isoform 3 NP_001306766.1:p.Asp69= NP_001306766.1:p.Asp69Asn
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_005245980.2:p.Asp69= XP_005245980.2:p.Asp69Asn
rho guanine nucleotide exchange factor 10-like protein isoform X3 XP_011539993.1:p.Asp69= XP_011539993.1:p.Asp69Asn
rho guanine nucleotide exchange factor 10-like protein isoform X5 XP_011539994.1:p.Asp69= XP_011539994.1:p.Asp69Asn
rho guanine nucleotide exchange factor 10-like protein isoform X4 XP_005245982.2:p.Asp69= XP_005245982.2:p.Asp69Asn
rho guanine nucleotide exchange factor 10-like protein isoform X6 XP_011539995.1:p.Asp69= XP_011539995.1:p.Asp69Asn
rho guanine nucleotide exchange factor 10-like protein isoform X10 XP_016857108.1:p.Asp69= XP_016857108.1:p.Asp69Asn
rho guanine nucleotide exchange factor 10-like protein isoform X11 XP_016857109.1:p.Asp69= XP_016857109.1:p.Asp69Asn
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_006710791.1:p.Asp69= XP_006710791.1:p.Asp69Asn
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710794.1:p.Asp69= XP_006710794.1:p.Asp69Asn
rho guanine nucleotide exchange factor 10-like protein isoform X12 XP_016857110.1:p.Asp69= XP_016857110.1:p.Asp69Asn
rho guanine nucleotide exchange factor 10-like protein isoform X13 XP_016857111.1:p.Asp69= XP_016857111.1:p.Asp69Asn
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303827.1:p.Asp69= XP_024303827.1:p.Asp69Asn
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303829.1:p.Asp69= XP_024303829.1:p.Asp69Asn
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710792.1:p.Asp69= XP_006710792.1:p.Asp69Asn
rho guanine nucleotide exchange factor 10-like protein isoform X7 XP_016857106.1:p.Asp69= XP_016857106.1:p.Asp69Asn
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303830.1:p.Asp69= XP_024303830.1:p.Asp69Asn
Rho guanine nucleotide exchange factor (GEF) 10-like isoform X3 XP_005245980.1:p.Asp69= XP_005245980.1:p.Asp69Asn
Rho guanine nucleotide exchange factor (GEF) 10-like isoform X5 XP_005245982.1:p.Asp69= XP_005245982.1:p.Asp69Asn
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#.

87 SubSNP, 24 Frequency submissions
No Submitter Submission ID Date (Build)
1 APPLERA_GI ss48415348 Mar 15, 2006 (126)
2 CANCER-GENOME ss86341858 Mar 23, 2008 (130)
3 1000GENOMES ss108025793 Jan 22, 2009 (130)
4 GMI ss154706319 Dec 01, 2009 (131)
5 SEATTLESEQ ss159696405 Dec 01, 2009 (131)
6 ILLUMINA ss160627354 Dec 01, 2009 (131)
7 1000GENOMES ss217314421 Jul 14, 2010 (132)
8 1000GENOMES ss217390869 Jul 14, 2010 (132)
9 1000GENOMES ss217392103 Jul 14, 2010 (132)
10 1000GENOMES ss217399989 Jul 14, 2010 (132)
11 1000GENOMES ss217410533 Jul 14, 2010 (132)
12 1000GENOMES ss230444583 Jul 14, 2010 (132)
13 1000GENOMES ss238155951 Jul 15, 2010 (132)
14 BL ss252952251 May 09, 2011 (134)
15 GMI ss275736121 May 04, 2012 (137)
16 NHLBI-ESP ss341939131 May 09, 2011 (134)
17 ILLUMINA ss481724172 Sep 08, 2015 (146)
18 1000GENOMES ss489724728 May 04, 2012 (137)
19 EXOME_CHIP ss491287907 May 04, 2012 (137)
20 CLINSEQ_SNP ss491587150 May 04, 2012 (137)
21 SSMP ss647610313 Apr 25, 2013 (138)
22 ILLUMINA ss780806369 Sep 08, 2015 (146)
23 ILLUMINA ss783488039 Sep 08, 2015 (146)
24 EVA-GONL ss974902118 Aug 21, 2014 (142)
25 JMKIDD_LAB ss1067417124 Aug 21, 2014 (142)
26 JMKIDD_LAB ss1067702373 Aug 21, 2014 (142)
27 1000GENOMES ss1289864917 Aug 21, 2014 (142)
28 DDI ss1425730760 Apr 01, 2015 (144)
29 EVA_GENOME_DK ss1573914277 Apr 01, 2015 (144)
30 EVA_FINRISK ss1584005271 Apr 01, 2015 (144)
31 EVA_DECODE ss1584259258 Apr 01, 2015 (144)
32 EVA_UK10K_ALSPAC ss1599635473 Apr 01, 2015 (144)
33 EVA_UK10K_TWINSUK ss1642629506 Apr 01, 2015 (144)
34 EVA_EXAC ss1685350403 Apr 01, 2015 (144)
35 EVA_MGP ss1710892527 Apr 01, 2015 (144)
36 ILLUMINA ss1751884015 Sep 08, 2015 (146)
37 ILLUMINA ss1917723732 Feb 12, 2016 (147)
38 WEILL_CORNELL_DGM ss1918112085 Feb 12, 2016 (147)
39 ILLUMINA ss1945986394 Feb 12, 2016 (147)
40 ILLUMINA ss1958247651 Feb 12, 2016 (147)
41 GENOMED ss1966695030 Jul 19, 2016 (147)
42 JJLAB ss2019567411 Sep 14, 2016 (149)
43 USC_VALOUEV ss2147569757 Dec 20, 2016 (150)
44 HUMAN_LONGEVITY ss2160377008 Dec 20, 2016 (150)
45 TOPMED ss2322557788 Dec 20, 2016 (150)
46 SYSTEMSBIOZJU ss2624300055 Nov 08, 2017 (151)
47 GRF ss2697473554 Nov 08, 2017 (151)
48 GNOMAD ss2731191434 Nov 08, 2017 (151)
49 GNOMAD ss2746239620 Nov 08, 2017 (151)
50 GNOMAD ss2752189930 Nov 08, 2017 (151)
51 AFFY ss2984847514 Nov 08, 2017 (151)
52 SWEGEN ss2986396261 Nov 08, 2017 (151)
53 ILLUMINA ss3021060931 Nov 08, 2017 (151)
54 BIOINF_KMB_FNS_UNIBA ss3023548328 Nov 08, 2017 (151)
55 TOPMED ss3069842301 Nov 08, 2017 (151)
56 CSHL ss3343345873 Nov 08, 2017 (151)
57 ILLUMINA ss3626037198 Oct 11, 2018 (152)
58 ILLUMINA ss3634309679 Oct 11, 2018 (152)
59 ILLUMINA ss3635985951 Oct 11, 2018 (152)
60 ILLUMINA ss3640017043 Oct 11, 2018 (152)
61 ILLUMINA ss3644482244 Oct 11, 2018 (152)
62 OMUKHERJEE_ADBS ss3646225688 Oct 11, 2018 (152)
63 ILLUMINA ss3651385434 Oct 11, 2018 (152)
64 ILLUMINA ss3653621247 Oct 11, 2018 (152)
65 EGCUT_WGS ss3654464802 Jul 12, 2019 (153)
66 EVA_DECODE ss3686257980 Jul 12, 2019 (153)
67 ILLUMINA ss3725001146 Jul 12, 2019 (153)
68 ACPOP ss3726831533 Jul 12, 2019 (153)
69 ILLUMINA ss3744340414 Jul 12, 2019 (153)
70 ILLUMINA ss3744610641 Jul 12, 2019 (153)
71 EVA ss3745885378 Jul 12, 2019 (153)
72 PAGE_CC ss3770789266 Jul 12, 2019 (153)
73 ILLUMINA ss3772112223 Jul 12, 2019 (153)
74 KHV_HUMAN_GENOMES ss3798907497 Jul 12, 2019 (153)
75 EVA ss3823568950 Apr 25, 2020 (154)
76 EVA ss3825555439 Apr 25, 2020 (154)
77 EVA ss3826047577 Apr 25, 2020 (154)
78 SGDP_PRJ ss3848316042 Apr 25, 2020 (154)
79 KRGDB ss3893219895 Apr 25, 2020 (154)
80 KOGIC ss3943938971 Apr 25, 2020 (154)
81 FSA-LAB ss3983919930 Apr 27, 2021 (155)
82 EVA ss3984452959 Apr 27, 2021 (155)
83 EVA ss3986009363 Apr 27, 2021 (155)
84 EVA ss3986103616 Apr 27, 2021 (155)
85 TOPMED ss4440697905 Apr 27, 2021 (155)
86 TOMMO_GENOMICS ss5142730702 Apr 27, 2021 (155)
87 EVA ss5236865325 Apr 27, 2021 (155)
88 1000Genomes NC_000001.10 - 17914122 Oct 11, 2018 (152)
89 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 17914122 Oct 11, 2018 (152)
90 Genetic variation in the Estonian population NC_000001.10 - 17914122 Oct 11, 2018 (152)
91 ExAC NC_000001.10 - 17914122 Oct 11, 2018 (152)
92 FINRISK NC_000001.10 - 17914122 Apr 25, 2020 (154)
93 The Danish reference pan genome NC_000001.10 - 17914122 Apr 25, 2020 (154)
94 gnomAD - Genomes NC_000001.11 - 17587627 Apr 27, 2021 (155)
95 gnomAD - Exomes NC_000001.10 - 17914122 Jul 12, 2019 (153)
96 GO Exome Sequencing Project NC_000001.10 - 17914122 Oct 11, 2018 (152)
97 Genome of the Netherlands Release 5 NC_000001.10 - 17914122 Apr 25, 2020 (154)
98 KOREAN population from KRGDB NC_000001.10 - 17914122 Apr 25, 2020 (154)
99 Korean Genome Project NC_000001.11 - 17587627 Apr 25, 2020 (154)
100 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 17914122 Apr 25, 2020 (154)
101 Northern Sweden NC_000001.10 - 17914122 Jul 12, 2019 (153)
102 The PAGE Study NC_000001.11 - 17587627 Jul 12, 2019 (153)
103 CNV burdens in cranial meningiomas NC_000001.10 - 17914122 Apr 27, 2021 (155)
104 Qatari NC_000001.10 - 17914122 Apr 25, 2020 (154)
105 SGDP_PRJ NC_000001.10 - 17914122 Apr 25, 2020 (154)
106 Siberian NC_000001.10 - 17914122 Apr 25, 2020 (154)
107 8.3KJPN NC_000001.10 - 17914122 Apr 27, 2021 (155)
108 TopMed NC_000001.11 - 17587627 Apr 27, 2021 (155)
109 UK 10K study - Twins NC_000001.10 - 17914122 Oct 11, 2018 (152)
110 A Vietnamese Genetic Variation Database NC_000001.10 - 17914122 Jul 12, 2019 (153)
111 ALFA NC_000001.11 - 17587627 Apr 27, 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)
rs61749342 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss108025793, ss217314421, ss217390869, ss217392103, ss217399989, ss217410533, ss252952251, ss275736121, ss491587150, ss1584259258 NC_000001.9:17786708:G:A NC_000001.11:17587626:G:A (self)
547358, 283197, 203050, 4532966, 1732, 1408166, 204050, 27668, 123890, 397289, 9279, 116398, 2261, 154015, 333022, 86111, 700009, 283197, 60480, ss230444583, ss238155951, ss341939131, ss481724172, ss489724728, ss491287907, ss647610313, ss780806369, ss783488039, ss974902118, ss1067417124, ss1067702373, ss1289864917, ss1425730760, ss1573914277, ss1584005271, ss1599635473, ss1642629506, ss1685350403, ss1710892527, ss1751884015, ss1917723732, ss1918112085, ss1945986394, ss1958247651, ss1966695030, ss2019567411, ss2147569757, ss2322557788, ss2624300055, ss2697473554, ss2731191434, ss2746239620, ss2752189930, ss2984847514, ss2986396261, ss3021060931, ss3343345873, ss3626037198, ss3634309679, ss3635985951, ss3640017043, ss3644482244, ss3646225688, ss3651385434, ss3653621247, ss3654464802, ss3726831533, ss3744340414, ss3744610641, ss3745885378, ss3772112223, ss3823568950, ss3825555439, ss3826047577, ss3848316042, ss3893219895, ss3983919930, ss3984452959, ss3986009363, ss3986103616, ss5142730702 NC_000001.10:17914121:G:A NC_000001.11:17587626:G:A (self)
3834968, 316972, 10735, 2701973, 4304240, 1862015352, ss2160377008, ss3023548328, ss3069842301, ss3686257980, ss3725001146, ss3770789266, ss3798907497, ss3943938971, ss4440697905, ss5236865325 NC_000001.11:17587626:G:A NC_000001.11:17587626:G:A (self)
ss48415348, ss86341858, ss154706319, ss159696405, ss160627354 NT_004610.19:4594209:G:A NC_000001.11:17587626:G:A (self)
Help

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

No publications for rs35497285

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.post596+ae089ad