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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.

rs34417109

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:17587562 (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=0.036356 (9623/264690, TOPMED)
A=0.046300 (11638/251360, GnomAD_exome)
A=0.052484 (12306/234472, ALFA) (+ 18 more)
A=0.042176 (5915/140246, GnomAD)
A=0.046870 (5689/121378, ExAC)
A=0.02046 (1610/78678, PAGE_STUDY)
A=0.00006 (1/16760, 8.3KJPN)
A=0.04583 (596/13006, GO-ESP)
A=0.0296 (148/5008, 1000G)
A=0.0493 (221/4480, Estonian)
A=0.0641 (247/3854, ALSPAC)
A=0.0626 (232/3708, TWINSUK)
A=0.069 (69/998, GoNL)
A=0.055 (33/600, NorthernSweden)
A=0.052 (28/534, MGP)
A=0.076 (23/304, FINRISK)
A=0.056 (12/216, Qatari)
A=0.07 (3/40, GENOME_DK)
G=0.50 (12/24, SGDP_PRJ)
A=0.50 (12/24, SGDP_PRJ)
G=0.0 (0/2, 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.17587562G>A
GRCh37.p13 chr 1 NC_000001.10:g.17914057G>A
ARHGEF10L RefSeqGene NG_050860.1:g.72366G>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.140G>A S [AGC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 2 NP_001011722.2:p.Ser47Asn S (Ser) > N (Asn) Missense Variant
ARHGEF10L transcript variant 3 NM_001319837.1:c.140G>A S [AGC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 3 NP_001306766.1:p.Ser47Asn S (Ser) > N (Asn) Missense Variant
ARHGEF10L transcript variant 1 NM_018125.4:c.140G>A S [AGC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 1 NP_060595.3:p.Ser47Asn S (Ser) > N (Asn) Missense Variant
ARHGEF10L transcript variant 6 NR_137287.2:n.436G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant 7 NR_137288.2:n.436G>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.140G>A S [AGC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_005245980.2:p.Ser47Asn S (Ser) > N (Asn) Missense Variant
ARHGEF10L transcript variant X1 XM_006710728.1:c.140G>A S [AGC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_006710791.1:p.Ser47Asn S (Ser) > N (Asn) Missense Variant
ARHGEF10L transcript variant X7 XM_006710729.1:c.140G>A S [AGC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710792.1:p.Ser47Asn S (Ser) > N (Asn) Missense Variant
ARHGEF10L transcript variant X6 XM_006710731.1:c.140G>A S [AGC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710794.1:p.Ser47Asn S (Ser) > N (Asn) Missense Variant
ARHGEF10L transcript variant X9 XM_005245925.2:c.140G>A S [AGC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X4 XP_005245982.2:p.Ser47Asn S (Ser) > N (Asn) Missense Variant
ARHGEF10L transcript variant X8 XM_011541691.2:c.140G>A S [AGC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X3 XP_011539993.1:p.Ser47Asn S (Ser) > N (Asn) Missense Variant
ARHGEF10L transcript variant X10 XM_011541692.2:c.140G>A S [AGC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X5 XP_011539994.1:p.Ser47Asn S (Ser) > N (Asn) Missense Variant
ARHGEF10L transcript variant X11 XM_011541693.2:c.140G>A S [AGC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X6 XP_011539995.1:p.Ser47Asn S (Ser) > N (Asn) Missense Variant
ARHGEF10L transcript variant X12 XM_017001617.1:c.140G>A S [AGC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X7 XP_016857106.1:p.Ser47Asn S (Ser) > N (Asn) Missense Variant
ARHGEF10L transcript variant X17 XM_017001619.1:c.140G>A S [AGC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X10 XP_016857108.1:p.Ser47Asn S (Ser) > N (Asn) Missense Variant
ARHGEF10L transcript variant X18 XM_017001620.1:c.140G>A S [AGC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X11 XP_016857109.1:p.Ser47Asn S (Ser) > N (Asn) Missense Variant
ARHGEF10L transcript variant X26 XM_017001621.1:c.140G>A S [AGC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X12 XP_016857110.1:p.Ser47Asn S (Ser) > N (Asn) Missense Variant
ARHGEF10L transcript variant X27 XM_017001622.1:c.140G>A S [AGC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X13 XP_016857111.1:p.Ser47Asn S (Ser) > N (Asn) Missense Variant
ARHGEF10L transcript variant X3 XM_024448059.1:c.140G>A S [AGC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303827.1:p.Ser47Asn S (Ser) > N (Asn) Missense Variant
ARHGEF10L transcript variant X4 XM_024448061.1:c.140G>A S [AGC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303829.1:p.Ser47Asn S (Ser) > N (Asn) Missense Variant
ARHGEF10L transcript variant X5 XM_024448062.1:c.140G>A S [AGC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303830.1:p.Ser47Asn S (Ser) > N (Asn) Missense Variant
ARHGEF10L transcript variant X14 XR_001737276.1:n.282G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X19 XR_001737277.1:n.269G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X20 XR_946688.2:n.269G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X21 XR_946689.2:n.269G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X22 XR_946690.2:n.282G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X24 XR_946691.2:n.269G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X13 XR_946686.3:n.269G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X23 XR_002956988.1:n.269G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X25 XR_002956989.1:n.269G>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 234472 G=0.947516 A=0.052484
European Sub 202592 G=0.943705 A=0.056295
African Sub 5190 G=0.9838 A=0.0162
African Others Sub 186 G=0.984 A=0.016
African American Sub 5004 G=0.9838 A=0.0162
Asian Sub 6410 G=0.9997 A=0.0003
East Asian Sub 4560 G=1.0000 A=0.0000
Other Asian Sub 1850 G=0.9989 A=0.0011
Latin American 1 Sub 818 G=0.972 A=0.028
Latin American 2 Sub 1058 G=0.9584 A=0.0416
South Asian Sub 296 G=0.936 A=0.064
Other Sub 18108 G=0.95974 A=0.04026


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").

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Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 G=0.963644 A=0.036356
gnomAD - Exomes Global Study-wide 251360 G=0.953700 A=0.046300
gnomAD - Exomes European Sub 135330 G=0.939053 A=0.060947
gnomAD - Exomes Asian Sub 49000 G=0.96461 A=0.03539
gnomAD - Exomes American Sub 34572 G=0.97359 A=0.02641
gnomAD - Exomes African Sub 16250 G=0.98640 A=0.01360
gnomAD - Exomes Ashkenazi Jewish Sub 10074 G=0.97985 A=0.02015
gnomAD - Exomes Other Sub 6134 G=0.9480 A=0.0520
gnomAD - Genomes Global Study-wide 140246 G=0.957824 A=0.042176
gnomAD - Genomes European Sub 75920 G=0.93853 A=0.06147
gnomAD - Genomes African Sub 42060 G=0.98374 A=0.01626
gnomAD - Genomes American Sub 13664 G=0.96999 A=0.03001
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.9762 A=0.0238
gnomAD - Genomes East Asian Sub 3132 G=0.9984 A=0.0016
gnomAD - Genomes Other Sub 2146 G=0.9674 A=0.0326
ExAC Global Study-wide 121378 G=0.953130 A=0.046870
ExAC Europe Sub 73328 G=0.94250 A=0.05750
ExAC Asian Sub 25164 G=0.96272 A=0.03728
ExAC American Sub 11576 G=0.97089 A=0.02911
ExAC African Sub 10402 G=0.98529 A=0.01471
ExAC Other Sub 908 G=0.950 A=0.050
The PAGE Study Global Study-wide 78678 G=0.97954 A=0.02046
The PAGE Study AfricanAmerican Sub 32504 G=0.98200 A=0.01800
The PAGE Study Mexican Sub 10808 G=0.97261 A=0.02739
The PAGE Study Asian Sub 8318 G=0.9990 A=0.0010
The PAGE Study PuertoRican Sub 7918 G=0.9792 A=0.0208
The PAGE Study NativeHawaiian Sub 4534 G=0.9870 A=0.0130
The PAGE Study Cuban Sub 4226 G=0.9553 A=0.0447
The PAGE Study Dominican Sub 3828 G=0.9734 A=0.0266
The PAGE Study CentralAmerican Sub 2450 G=0.9767 A=0.0233
The PAGE Study SouthAmerican Sub 1978 G=0.9737 A=0.0263
The PAGE Study NativeAmerican Sub 1260 G=0.9563 A=0.0437
The PAGE Study SouthAsian Sub 854 G=0.951 A=0.049
8.3KJPN JAPANESE Study-wide 16760 G=0.99994 A=0.00006
GO Exome Sequencing Project Global Study-wide 13006 G=0.95417 A=0.04583
GO Exome Sequencing Project European American Sub 8600 G=0.9384 A=0.0616
GO Exome Sequencing Project African American Sub 4406 G=0.9850 A=0.0150
1000Genomes Global Study-wide 5008 G=0.9704 A=0.0296
1000Genomes African Sub 1322 G=0.9917 A=0.0083
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=0.9404 A=0.0596
1000Genomes South Asian Sub 978 G=0.943 A=0.057
1000Genomes American Sub 694 G=0.970 A=0.030
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9507 A=0.0493
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9359 A=0.0641
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9374 A=0.0626
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.931 A=0.069
Northern Sweden ACPOP Study-wide 600 G=0.945 A=0.055
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.948 A=0.052
FINRISK Finnish from FINRISK project Study-wide 304 G=0.924 A=0.076
Qatari Global Study-wide 216 G=0.944 A=0.056
The Danish reference pan genome Danish Study-wide 40 G=0.93 A=0.07
SGDP_PRJ Global Study-wide 24 G=0.50 A=0.50
Siberian Global Study-wide 2 G=0.0 A=1.0
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.17587562= NC_000001.11:g.17587562G>A
GRCh37.p13 chr 1 NC_000001.10:g.17914057= NC_000001.10:g.17914057G>A
ARHGEF10L RefSeqGene NG_050860.1:g.72366= NG_050860.1:g.72366G>A
ARHGEF10L transcript variant 1 NM_018125.4:c.140= NM_018125.4:c.140G>A
ARHGEF10L transcript variant 1 NM_018125.3:c.140= NM_018125.3:c.140G>A
ARHGEF10L transcript variant 6 NR_137287.2:n.436= NR_137287.2:n.436G>A
ARHGEF10L transcript variant 6 NR_137287.1:n.299= NR_137287.1:n.299G>A
ARHGEF10L transcript variant 7 NR_137288.2:n.436= NR_137288.2:n.436G>A
ARHGEF10L transcript variant 7 NR_137288.1:n.299= NR_137288.1:n.299G>A
ARHGEF10L transcript variant 2 NM_001011722.2:c.140= NM_001011722.2:c.140G>A
ARHGEF10L transcript variant 3 NM_001319837.1:c.140= NM_001319837.1:c.140G>A
ARHGEF10L transcript variant X13 XR_946686.3:n.269= XR_946686.3:n.269G>A
ARHGEF10L transcript variant X2 XM_005245923.2:c.140= XM_005245923.2:c.140G>A
ARHGEF10L transcript variant X3 XM_005245923.1:c.140= XM_005245923.1:c.140G>A
ARHGEF10L transcript variant X8 XM_011541691.2:c.140= XM_011541691.2:c.140G>A
ARHGEF10L transcript variant X10 XM_011541692.2:c.140= XM_011541692.2:c.140G>A
ARHGEF10L transcript variant X9 XM_005245925.2:c.140= XM_005245925.2:c.140G>A
ARHGEF10L transcript variant X5 XM_005245925.1:c.140= XM_005245925.1:c.140G>A
ARHGEF10L transcript variant X11 XM_011541693.2:c.140= XM_011541693.2:c.140G>A
ARHGEF10L transcript variant X22 XR_946690.2:n.282= XR_946690.2:n.282G>A
ARHGEF10L transcript variant X20 XR_946688.2:n.269= XR_946688.2:n.269G>A
ARHGEF10L transcript variant X21 XR_946689.2:n.269= XR_946689.2:n.269G>A
ARHGEF10L transcript variant X24 XR_946691.2:n.269= XR_946691.2:n.269G>A
ARHGEF10L transcript variant X17 XM_017001619.1:c.140= XM_017001619.1:c.140G>A
ARHGEF10L transcript variant X18 XM_017001620.1:c.140= XM_017001620.1:c.140G>A
ARHGEF10L transcript variant X23 XR_002956988.1:n.269= XR_002956988.1:n.269G>A
ARHGEF10L transcript variant X25 XR_002956989.1:n.269= XR_002956989.1:n.269G>A
ARHGEF10L transcript variant X1 XM_006710728.1:c.140= XM_006710728.1:c.140G>A
ARHGEF10L transcript variant X6 XM_006710731.1:c.140= XM_006710731.1:c.140G>A
ARHGEF10L transcript variant X26 XM_017001621.1:c.140= XM_017001621.1:c.140G>A
ARHGEF10L transcript variant X27 XM_017001622.1:c.140= XM_017001622.1:c.140G>A
ARHGEF10L transcript variant X3 XM_024448059.1:c.140= XM_024448059.1:c.140G>A
ARHGEF10L transcript variant X4 XM_024448061.1:c.140= XM_024448061.1:c.140G>A
ARHGEF10L transcript variant X7 XM_006710729.1:c.140= XM_006710729.1:c.140G>A
ARHGEF10L transcript variant X12 XM_017001617.1:c.140= XM_017001617.1:c.140G>A
ARHGEF10L transcript variant X5 XM_024448062.1:c.140= XM_024448062.1:c.140G>A
ARHGEF10L transcript variant X19 XR_001737277.1:n.269= XR_001737277.1:n.269G>A
ARHGEF10L transcript variant X14 XR_001737276.1:n.282= XR_001737276.1:n.282G>A
rho guanine nucleotide exchange factor 10-like protein isoform 1 NP_060595.3:p.Ser47= NP_060595.3:p.Ser47Asn
rho guanine nucleotide exchange factor 10-like protein isoform 2 NP_001011722.2:p.Ser47= NP_001011722.2:p.Ser47Asn
rho guanine nucleotide exchange factor 10-like protein isoform 3 NP_001306766.1:p.Ser47= NP_001306766.1:p.Ser47Asn
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_005245980.2:p.Ser47= XP_005245980.2:p.Ser47Asn
rho guanine nucleotide exchange factor 10-like protein isoform X3 XP_011539993.1:p.Ser47= XP_011539993.1:p.Ser47Asn
rho guanine nucleotide exchange factor 10-like protein isoform X5 XP_011539994.1:p.Ser47= XP_011539994.1:p.Ser47Asn
rho guanine nucleotide exchange factor 10-like protein isoform X4 XP_005245982.2:p.Ser47= XP_005245982.2:p.Ser47Asn
rho guanine nucleotide exchange factor 10-like protein isoform X6 XP_011539995.1:p.Ser47= XP_011539995.1:p.Ser47Asn
rho guanine nucleotide exchange factor 10-like protein isoform X10 XP_016857108.1:p.Ser47= XP_016857108.1:p.Ser47Asn
rho guanine nucleotide exchange factor 10-like protein isoform X11 XP_016857109.1:p.Ser47= XP_016857109.1:p.Ser47Asn
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_006710791.1:p.Ser47= XP_006710791.1:p.Ser47Asn
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710794.1:p.Ser47= XP_006710794.1:p.Ser47Asn
rho guanine nucleotide exchange factor 10-like protein isoform X12 XP_016857110.1:p.Ser47= XP_016857110.1:p.Ser47Asn
rho guanine nucleotide exchange factor 10-like protein isoform X13 XP_016857111.1:p.Ser47= XP_016857111.1:p.Ser47Asn
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303827.1:p.Ser47= XP_024303827.1:p.Ser47Asn
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303829.1:p.Ser47= XP_024303829.1:p.Ser47Asn
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710792.1:p.Ser47= XP_006710792.1:p.Ser47Asn
rho guanine nucleotide exchange factor 10-like protein isoform X7 XP_016857106.1:p.Ser47= XP_016857106.1:p.Ser47Asn
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303830.1:p.Ser47= XP_024303830.1:p.Ser47Asn
Rho guanine nucleotide exchange factor (GEF) 10-like isoform X3 XP_005245980.1:p.Ser47= XP_005245980.1:p.Ser47Asn
Rho guanine nucleotide exchange factor (GEF) 10-like isoform X5 XP_005245982.1:p.Ser47= XP_005245982.1:p.Ser47Asn
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#.

80 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 APPLERA_GI ss48415349 Mar 13, 2006 (126)
2 CANCER-GENOME ss86341857 Mar 23, 2008 (129)
3 1000GENOMES ss108025790 Jan 22, 2009 (130)
4 1000GENOMES ss217314419 Jul 14, 2010 (132)
5 1000GENOMES ss217405874 Jul 14, 2010 (132)
6 1000GENOMES ss217410527 Jul 14, 2010 (132)
7 1000GENOMES ss230444582 Jul 14, 2010 (132)
8 NHLBI-ESP ss341939124 May 09, 2011 (134)
9 ILLUMINA ss482155284 May 04, 2012 (137)
10 ILLUMINA ss483955740 May 04, 2012 (137)
11 1000GENOMES ss489724726 May 04, 2012 (137)
12 EXOME_CHIP ss491287905 May 04, 2012 (137)
13 CLINSEQ_SNP ss491587148 May 04, 2012 (137)
14 ILLUMINA ss536149632 Sep 08, 2015 (146)
15 SSMP ss647610312 Apr 25, 2013 (138)
16 ILLUMINA ss779521441 Sep 08, 2015 (146)
17 ILLUMINA ss780806347 Sep 08, 2015 (146)
18 ILLUMINA ss782421861 Sep 08, 2015 (146)
19 ILLUMINA ss783488016 Sep 08, 2015 (146)
20 ILLUMINA ss834991918 Sep 08, 2015 (146)
21 EVA-GONL ss974902117 Aug 21, 2014 (142)
22 JMKIDD_LAB ss1067417123 Aug 21, 2014 (142)
23 JMKIDD_LAB ss1067702372 Aug 21, 2014 (142)
24 1000GENOMES ss1289864911 Aug 21, 2014 (142)
25 EVA_GENOME_DK ss1573914276 Apr 01, 2015 (144)
26 EVA_FINRISK ss1584005270 Apr 01, 2015 (144)
27 EVA_DECODE ss1584259257 Apr 01, 2015 (144)
28 EVA_UK10K_ALSPAC ss1599635471 Apr 01, 2015 (144)
29 EVA_UK10K_TWINSUK ss1642629504 Apr 01, 2015 (144)
30 EVA_EXAC ss1685350381 Apr 01, 2015 (144)
31 EVA_MGP ss1710892526 Apr 01, 2015 (144)
32 ILLUMINA ss1751884013 Sep 08, 2015 (146)
33 HAMMER_LAB ss1793989032 Sep 08, 2015 (146)
34 ILLUMINA ss1917723730 Feb 12, 2016 (147)
35 WEILL_CORNELL_DGM ss1918112084 Feb 12, 2016 (147)
36 ILLUMINA ss1945986391 Feb 12, 2016 (147)
37 ILLUMINA ss1958247649 Feb 12, 2016 (147)
38 JJLAB ss2019567410 Sep 14, 2016 (149)
39 USC_VALOUEV ss2147569756 Dec 20, 2016 (150)
40 HUMAN_LONGEVITY ss2160377003 Dec 20, 2016 (150)
41 TOPMED ss2322557779 Dec 20, 2016 (150)
42 ILLUMINA ss2632483518 Nov 08, 2017 (151)
43 ILLUMINA ss2710666783 Nov 08, 2017 (151)
44 GNOMAD ss2731191409 Nov 08, 2017 (151)
45 GNOMAD ss2746239616 Nov 08, 2017 (151)
46 GNOMAD ss2752189926 Nov 08, 2017 (151)
47 AFFY ss2984847510 Nov 08, 2017 (151)
48 SWEGEN ss2986396259 Nov 08, 2017 (151)
49 ILLUMINA ss3021060929 Nov 08, 2017 (151)
50 TOPMED ss3069842281 Nov 08, 2017 (151)
51 CSHL ss3343345872 Nov 08, 2017 (151)
52 ILLUMINA ss3626037196 Oct 11, 2018 (152)
53 ILLUMINA ss3626037197 Oct 11, 2018 (152)
54 ILLUMINA ss3630521513 Oct 11, 2018 (152)
55 ILLUMINA ss3634309677 Oct 11, 2018 (152)
56 ILLUMINA ss3640017041 Oct 11, 2018 (152)
57 ILLUMINA ss3644482242 Oct 11, 2018 (152)
58 OMUKHERJEE_ADBS ss3646225687 Oct 11, 2018 (152)
59 ILLUMINA ss3651385432 Oct 11, 2018 (152)
60 ILLUMINA ss3653621243 Oct 11, 2018 (152)
61 EGCUT_WGS ss3654464801 Jul 12, 2019 (153)
62 EVA_DECODE ss3686257978 Jul 12, 2019 (153)
63 ILLUMINA ss3725001145 Jul 12, 2019 (153)
64 ACPOP ss3726831531 Jul 12, 2019 (153)
65 ILLUMINA ss3744340412 Jul 12, 2019 (153)
66 ILLUMINA ss3744610639 Jul 12, 2019 (153)
67 EVA ss3745885376 Jul 12, 2019 (153)
68 PAGE_CC ss3770789265 Jul 12, 2019 (153)
69 ILLUMINA ss3772112221 Jul 12, 2019 (153)
70 EVA ss3823568943 Apr 25, 2020 (154)
71 EVA ss3825555438 Apr 25, 2020 (154)
72 EVA ss3826047576 Apr 25, 2020 (154)
73 EVA ss3836411985 Apr 25, 2020 (154)
74 EVA ss3841816291 Apr 25, 2020 (154)
75 SGDP_PRJ ss3848316041 Apr 25, 2020 (154)
76 FSA-LAB ss3983919929 Apr 27, 2021 (155)
77 EVA ss3986103615 Apr 27, 2021 (155)
78 TOPMED ss4440697881 Apr 27, 2021 (155)
79 TOMMO_GENOMICS ss5142730699 Apr 27, 2021 (155)
80 EVA ss5236865324 Apr 27, 2021 (155)
81 1000Genomes NC_000001.10 - 17914057 Oct 11, 2018 (152)
82 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 17914057 Oct 11, 2018 (152)
83 Genetic variation in the Estonian population NC_000001.10 - 17914057 Oct 11, 2018 (152)
84 ExAC NC_000001.10 - 17914057 Oct 11, 2018 (152)
85 FINRISK NC_000001.10 - 17914057 Apr 25, 2020 (154)
86 The Danish reference pan genome NC_000001.10 - 17914057 Apr 25, 2020 (154)
87 gnomAD - Genomes NC_000001.11 - 17587562 Apr 27, 2021 (155)
88 gnomAD - Exomes NC_000001.10 - 17914057 Jul 12, 2019 (153)
89 GO Exome Sequencing Project NC_000001.10 - 17914057 Oct 11, 2018 (152)
90 Genome of the Netherlands Release 5 NC_000001.10 - 17914057 Apr 25, 2020 (154)
91 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 17914057 Apr 25, 2020 (154)
92 Northern Sweden NC_000001.10 - 17914057 Jul 12, 2019 (153)
93 The PAGE Study NC_000001.11 - 17587562 Jul 12, 2019 (153)
94 Qatari NC_000001.10 - 17914057 Apr 25, 2020 (154)
95 SGDP_PRJ NC_000001.10 - 17914057 Apr 25, 2020 (154)
96 Siberian NC_000001.10 - 17914057 Apr 25, 2020 (154)
97 8.3KJPN NC_000001.10 - 17914057 Apr 27, 2021 (155)
98 TopMed NC_000001.11 - 17587562 Apr 27, 2021 (155)
99 UK 10K study - Twins NC_000001.10 - 17914057 Oct 11, 2018 (152)
100 ALFA NC_000001.11 - 17587562 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss108025790, ss217314419, ss217405874, ss217410527, ss482155284, ss491587148, ss1584259257 NC_000001.9:17786643:G:A NC_000001.11:17587561:G:A (self)
547352, 283195, 203049, 4532942, 1731, 1408165, 204016, 27661, 123889, 9278, 116396, 154014, 333021, 86110, 700006, 283195, ss230444582, ss341939124, ss483955740, ss489724726, ss491287905, ss536149632, ss647610312, ss779521441, ss780806347, ss782421861, ss783488016, ss834991918, ss974902117, ss1067417123, ss1067702372, ss1289864911, ss1573914276, ss1584005270, ss1599635471, ss1642629504, ss1685350381, ss1710892526, ss1751884013, ss1793989032, ss1917723730, ss1918112084, ss1945986391, ss1958247649, ss2019567410, ss2147569756, ss2322557779, ss2632483518, ss2710666783, ss2731191409, ss2746239616, ss2752189926, ss2984847510, ss2986396259, ss3021060929, ss3343345872, ss3626037196, ss3626037197, ss3630521513, ss3634309677, ss3640017041, ss3644482242, ss3646225687, ss3651385432, ss3653621243, ss3654464801, ss3726831531, ss3744340412, ss3744610639, ss3745885376, ss3772112221, ss3823568943, ss3825555438, ss3826047576, ss3836411985, ss3848316041, ss3983919929, ss3986103615, ss5142730699 NC_000001.10:17914056:G:A NC_000001.11:17587561:G:A (self)
3834945, 10734, 2701955, 4304216, 2672617192, ss2160377003, ss3069842281, ss3686257978, ss3725001145, ss3770789265, ss3841816291, ss4440697881, ss5236865324 NC_000001.11:17587561:G:A NC_000001.11:17587561:G:A (self)
ss48415349, ss86341857 NT_004610.19:4594144:G:A NC_000001.11:17587561: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 rs34417109

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