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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.

rs116209107

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:17587469 (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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.001016 (269/264690, TOPMED)
C=0.001704 (424/248756, GnomAD_exome)
C=0.001164 (207/177872, ALFA) (+ 12 more)
C=0.000813 (114/140250, GnomAD)
C=0.001564 (186/118902, ExAC)
C=0.00182 (143/78692, PAGE_STUDY)
C=0.00084 (14/16760, 8.3KJPN)
C=0.00008 (1/13006, GO-ESP)
C=0.0046 (23/5008, 1000G)
C=0.0044 (13/2922, KOREAN)
C=0.0022 (4/1832, Korea1K)
C=0.014 (11/788, PRJEB37584)
C=0.016 (10/607, Vietnamese)
T=0.5 (2/4, SGDP_PRJ)
C=0.5 (2/4, SGDP_PRJ)
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.17587469T>C
GRCh37.p13 chr 1 NC_000001.10:g.17913964T>C
ARHGEF10L RefSeqGene NG_050860.1:g.72273T>C
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.47T>C L [CTG] > P [CCG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 2 NP_001011722.2:p.Leu16Pro L (Leu) > P (Pro) Missense Variant
ARHGEF10L transcript variant 3 NM_001319837.1:c.47T>C L [CTG] > P [CCG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 3 NP_001306766.1:p.Leu16Pro L (Leu) > P (Pro) Missense Variant
ARHGEF10L transcript variant 1 NM_018125.4:c.47T>C L [CTG] > P [CCG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 1 NP_060595.3:p.Leu16Pro L (Leu) > P (Pro) Missense Variant
ARHGEF10L transcript variant 6 NR_137287.2:n.343T>C N/A Non Coding Transcript Variant
ARHGEF10L transcript variant 7 NR_137288.2:n.343T>C 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.47T>C L [CTG] > P [CCG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_005245980.2:p.Leu16Pro L (Leu) > P (Pro) Missense Variant
ARHGEF10L transcript variant X1 XM_006710728.1:c.47T>C L [CTG] > P [CCG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_006710791.1:p.Leu16Pro L (Leu) > P (Pro) Missense Variant
ARHGEF10L transcript variant X7 XM_006710729.1:c.47T>C L [CTG] > P [CCG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710792.1:p.Leu16Pro L (Leu) > P (Pro) Missense Variant
ARHGEF10L transcript variant X6 XM_006710731.1:c.47T>C L [CTG] > P [CCG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710794.1:p.Leu16Pro L (Leu) > P (Pro) Missense Variant
ARHGEF10L transcript variant X9 XM_005245925.2:c.47T>C L [CTG] > P [CCG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X4 XP_005245982.2:p.Leu16Pro L (Leu) > P (Pro) Missense Variant
ARHGEF10L transcript variant X8 XM_011541691.2:c.47T>C L [CTG] > P [CCG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X3 XP_011539993.1:p.Leu16Pro L (Leu) > P (Pro) Missense Variant
ARHGEF10L transcript variant X10 XM_011541692.2:c.47T>C L [CTG] > P [CCG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X5 XP_011539994.1:p.Leu16Pro L (Leu) > P (Pro) Missense Variant
ARHGEF10L transcript variant X11 XM_011541693.2:c.47T>C L [CTG] > P [CCG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X6 XP_011539995.1:p.Leu16Pro L (Leu) > P (Pro) Missense Variant
ARHGEF10L transcript variant X12 XM_017001617.1:c.47T>C L [CTG] > P [CCG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X7 XP_016857106.1:p.Leu16Pro L (Leu) > P (Pro) Missense Variant
ARHGEF10L transcript variant X17 XM_017001619.1:c.47T>C L [CTG] > P [CCG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X10 XP_016857108.1:p.Leu16Pro L (Leu) > P (Pro) Missense Variant
ARHGEF10L transcript variant X18 XM_017001620.1:c.47T>C L [CTG] > P [CCG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X11 XP_016857109.1:p.Leu16Pro L (Leu) > P (Pro) Missense Variant
ARHGEF10L transcript variant X26 XM_017001621.1:c.47T>C L [CTG] > P [CCG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X12 XP_016857110.1:p.Leu16Pro L (Leu) > P (Pro) Missense Variant
ARHGEF10L transcript variant X27 XM_017001622.1:c.47T>C L [CTG] > P [CCG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X13 XP_016857111.1:p.Leu16Pro L (Leu) > P (Pro) Missense Variant
ARHGEF10L transcript variant X3 XM_024448059.1:c.47T>C L [CTG] > P [CCG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303827.1:p.Leu16Pro L (Leu) > P (Pro) Missense Variant
ARHGEF10L transcript variant X4 XM_024448061.1:c.47T>C L [CTG] > P [CCG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303829.1:p.Leu16Pro L (Leu) > P (Pro) Missense Variant
ARHGEF10L transcript variant X5 XM_024448062.1:c.47T>C L [CTG] > P [CCG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303830.1:p.Leu16Pro L (Leu) > P (Pro) Missense Variant
ARHGEF10L transcript variant X14 XR_001737276.1:n.189T>C N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X19 XR_001737277.1:n.176T>C N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X20 XR_946688.2:n.176T>C N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X21 XR_946689.2:n.176T>C N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X22 XR_946690.2:n.189T>C N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X24 XR_946691.2:n.176T>C N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X13 XR_946686.3:n.176T>C N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X23 XR_002956988.1:n.176T>C N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X25 XR_002956989.1:n.176T>C 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 177872 T=0.998836 C=0.001164
European Sub 153030 T=0.999980 C=0.000020
African Sub 4934 T=0.9984 C=0.0016
African Others Sub 176 T=1.000 C=0.000
African American Sub 4758 T=0.9983 C=0.0017
Asian Sub 6338 T=0.9809 C=0.0191
East Asian Sub 4492 T=0.9886 C=0.0114
Other Asian Sub 1846 T=0.9621 C=0.0379
Latin American 1 Sub 442 T=1.000 C=0.000
Latin American 2 Sub 950 T=1.000 C=0.000
South Asian Sub 280 T=1.000 C=0.000
Other Sub 11898 T=0.99370 C=0.00630


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 T=0.998984 C=0.001016
gnomAD - Exomes Global Study-wide 248756 T=0.998296 C=0.001704
gnomAD - Exomes European Sub 133760 T=1.000000 C=0.000000
gnomAD - Exomes Asian Sub 48758 T=0.99159 C=0.00841
gnomAD - Exomes American Sub 34120 T=0.99997 C=0.00003
gnomAD - Exomes African Sub 16210 T=0.99963 C=0.00037
gnomAD - Exomes Ashkenazi Jewish Sub 9868 T=1.0000 C=0.0000
gnomAD - Exomes Other Sub 6040 T=0.9988 C=0.0012
gnomAD - Genomes Global Study-wide 140250 T=0.999187 C=0.000813
gnomAD - Genomes European Sub 75946 T=1.00000 C=0.00000
gnomAD - Genomes African Sub 42034 T=0.99950 C=0.00050
gnomAD - Genomes American Sub 13662 T=0.99978 C=0.00022
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3134 T=0.9716 C=0.0284
gnomAD - Genomes Other Sub 2152 T=0.9995 C=0.0005
ExAC Global Study-wide 118902 T=0.998436 C=0.001564
ExAC Europe Sub 72380 T=1.00000 C=0.00000
ExAC Asian Sub 23844 T=0.99233 C=0.00767
ExAC American Sub 11512 T=1.00000 C=0.00000
ExAC African Sub 10294 T=0.99971 C=0.00029
ExAC Other Sub 872 T=1.000 C=0.000
The PAGE Study Global Study-wide 78692 T=0.99818 C=0.00182
The PAGE Study AfricanAmerican Sub 32510 T=0.99951 C=0.00049
The PAGE Study Mexican Sub 10810 T=0.99963 C=0.00037
The PAGE Study Asian Sub 8318 T=0.9950 C=0.0050
The PAGE Study PuertoRican Sub 7918 T=0.9999 C=0.0001
The PAGE Study NativeHawaiian Sub 4534 T=0.9830 C=0.0170
The PAGE Study Cuban Sub 4226 T=0.9995 C=0.0005
The PAGE Study Dominican Sub 3828 T=1.0000 C=0.0000
The PAGE Study CentralAmerican Sub 2450 T=1.0000 C=0.0000
The PAGE Study SouthAmerican Sub 1982 T=0.9995 C=0.0005
The PAGE Study NativeAmerican Sub 1260 T=1.0000 C=0.0000
The PAGE Study SouthAsian Sub 856 T=1.000 C=0.000
8.3KJPN JAPANESE Study-wide 16760 T=0.99916 C=0.00084
GO Exome Sequencing Project Global Study-wide 13006 T=0.99992 C=0.00008
GO Exome Sequencing Project European American Sub 8600 T=1.0000 C=0.0000
GO Exome Sequencing Project African American Sub 4406 T=0.9998 C=0.0002
1000Genomes Global Study-wide 5008 T=0.9954 C=0.0046
1000Genomes African Sub 1322 T=1.0000 C=0.0000
1000Genomes East Asian Sub 1008 T=0.9772 C=0.0228
1000Genomes Europe Sub 1006 T=1.0000 C=0.0000
1000Genomes South Asian Sub 978 T=1.000 C=0.000
1000Genomes American Sub 694 T=1.000 C=0.000
KOREAN population from KRGDB KOREAN Study-wide 2922 T=0.9956 C=0.0044
Korean Genome Project KOREAN Study-wide 1832 T=0.9978 C=0.0022
CNV burdens in cranial meningiomas Global Study-wide 788 T=0.986 C=0.014
CNV burdens in cranial meningiomas CRM Sub 788 T=0.986 C=0.014
A Vietnamese Genetic Variation Database Global Study-wide 607 T=0.984 C=0.016
SGDP_PRJ Global Study-wide 4 T=0.5 C=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 T= C
GRCh38.p13 chr 1 NC_000001.11:g.17587469= NC_000001.11:g.17587469T>C
GRCh37.p13 chr 1 NC_000001.10:g.17913964= NC_000001.10:g.17913964T>C
ARHGEF10L RefSeqGene NG_050860.1:g.72273= NG_050860.1:g.72273T>C
ARHGEF10L transcript variant 1 NM_018125.4:c.47= NM_018125.4:c.47T>C
ARHGEF10L transcript variant 1 NM_018125.3:c.47= NM_018125.3:c.47T>C
ARHGEF10L transcript variant 6 NR_137287.2:n.343= NR_137287.2:n.343T>C
ARHGEF10L transcript variant 6 NR_137287.1:n.206= NR_137287.1:n.206T>C
ARHGEF10L transcript variant 7 NR_137288.2:n.343= NR_137288.2:n.343T>C
ARHGEF10L transcript variant 7 NR_137288.1:n.206= NR_137288.1:n.206T>C
ARHGEF10L transcript variant 2 NM_001011722.2:c.47= NM_001011722.2:c.47T>C
ARHGEF10L transcript variant 3 NM_001319837.1:c.47= NM_001319837.1:c.47T>C
ARHGEF10L transcript variant X13 XR_946686.3:n.176= XR_946686.3:n.176T>C
ARHGEF10L transcript variant X2 XM_005245923.2:c.47= XM_005245923.2:c.47T>C
ARHGEF10L transcript variant X3 XM_005245923.1:c.47= XM_005245923.1:c.47T>C
ARHGEF10L transcript variant X8 XM_011541691.2:c.47= XM_011541691.2:c.47T>C
ARHGEF10L transcript variant X10 XM_011541692.2:c.47= XM_011541692.2:c.47T>C
ARHGEF10L transcript variant X9 XM_005245925.2:c.47= XM_005245925.2:c.47T>C
ARHGEF10L transcript variant X5 XM_005245925.1:c.47= XM_005245925.1:c.47T>C
ARHGEF10L transcript variant X11 XM_011541693.2:c.47= XM_011541693.2:c.47T>C
ARHGEF10L transcript variant X22 XR_946690.2:n.189= XR_946690.2:n.189T>C
ARHGEF10L transcript variant X20 XR_946688.2:n.176= XR_946688.2:n.176T>C
ARHGEF10L transcript variant X21 XR_946689.2:n.176= XR_946689.2:n.176T>C
ARHGEF10L transcript variant X24 XR_946691.2:n.176= XR_946691.2:n.176T>C
ARHGEF10L transcript variant X17 XM_017001619.1:c.47= XM_017001619.1:c.47T>C
ARHGEF10L transcript variant X18 XM_017001620.1:c.47= XM_017001620.1:c.47T>C
ARHGEF10L transcript variant X23 XR_002956988.1:n.176= XR_002956988.1:n.176T>C
ARHGEF10L transcript variant X25 XR_002956989.1:n.176= XR_002956989.1:n.176T>C
ARHGEF10L transcript variant X1 XM_006710728.1:c.47= XM_006710728.1:c.47T>C
ARHGEF10L transcript variant X6 XM_006710731.1:c.47= XM_006710731.1:c.47T>C
ARHGEF10L transcript variant X26 XM_017001621.1:c.47= XM_017001621.1:c.47T>C
ARHGEF10L transcript variant X27 XM_017001622.1:c.47= XM_017001622.1:c.47T>C
ARHGEF10L transcript variant X3 XM_024448059.1:c.47= XM_024448059.1:c.47T>C
ARHGEF10L transcript variant X4 XM_024448061.1:c.47= XM_024448061.1:c.47T>C
ARHGEF10L transcript variant X7 XM_006710729.1:c.47= XM_006710729.1:c.47T>C
ARHGEF10L transcript variant X12 XM_017001617.1:c.47= XM_017001617.1:c.47T>C
ARHGEF10L transcript variant X5 XM_024448062.1:c.47= XM_024448062.1:c.47T>C
ARHGEF10L transcript variant X19 XR_001737277.1:n.176= XR_001737277.1:n.176T>C
ARHGEF10L transcript variant X14 XR_001737276.1:n.189= XR_001737276.1:n.189T>C
rho guanine nucleotide exchange factor 10-like protein isoform 1 NP_060595.3:p.Leu16= NP_060595.3:p.Leu16Pro
rho guanine nucleotide exchange factor 10-like protein isoform 2 NP_001011722.2:p.Leu16= NP_001011722.2:p.Leu16Pro
rho guanine nucleotide exchange factor 10-like protein isoform 3 NP_001306766.1:p.Leu16= NP_001306766.1:p.Leu16Pro
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_005245980.2:p.Leu16= XP_005245980.2:p.Leu16Pro
rho guanine nucleotide exchange factor 10-like protein isoform X3 XP_011539993.1:p.Leu16= XP_011539993.1:p.Leu16Pro
rho guanine nucleotide exchange factor 10-like protein isoform X5 XP_011539994.1:p.Leu16= XP_011539994.1:p.Leu16Pro
rho guanine nucleotide exchange factor 10-like protein isoform X4 XP_005245982.2:p.Leu16= XP_005245982.2:p.Leu16Pro
rho guanine nucleotide exchange factor 10-like protein isoform X6 XP_011539995.1:p.Leu16= XP_011539995.1:p.Leu16Pro
rho guanine nucleotide exchange factor 10-like protein isoform X10 XP_016857108.1:p.Leu16= XP_016857108.1:p.Leu16Pro
rho guanine nucleotide exchange factor 10-like protein isoform X11 XP_016857109.1:p.Leu16= XP_016857109.1:p.Leu16Pro
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_006710791.1:p.Leu16= XP_006710791.1:p.Leu16Pro
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710794.1:p.Leu16= XP_006710794.1:p.Leu16Pro
rho guanine nucleotide exchange factor 10-like protein isoform X12 XP_016857110.1:p.Leu16= XP_016857110.1:p.Leu16Pro
rho guanine nucleotide exchange factor 10-like protein isoform X13 XP_016857111.1:p.Leu16= XP_016857111.1:p.Leu16Pro
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303827.1:p.Leu16= XP_024303827.1:p.Leu16Pro
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303829.1:p.Leu16= XP_024303829.1:p.Leu16Pro
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710792.1:p.Leu16= XP_006710792.1:p.Leu16Pro
rho guanine nucleotide exchange factor 10-like protein isoform X7 XP_016857106.1:p.Leu16= XP_016857106.1:p.Leu16Pro
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303830.1:p.Leu16= XP_024303830.1:p.Leu16Pro
Rho guanine nucleotide exchange factor (GEF) 10-like isoform X3 XP_005245980.1:p.Leu16= XP_005245980.1:p.Leu16Pro
Rho guanine nucleotide exchange factor (GEF) 10-like isoform X5 XP_005245982.1:p.Leu16= XP_005245982.1:p.Leu16Pro
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#.

45 SubSNP, 14 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss217390865 Jul 14, 2010 (132)
2 1000GENOMES ss217392098 Jul 14, 2010 (132)
3 1000GENOMES ss453905588 Sep 17, 2011 (135)
4 1000GENOMES ss489724724 May 04, 2012 (137)
5 EXOME_CHIP ss491287904 May 04, 2012 (137)
6 SSMP ss647610310 Apr 25, 2013 (138)
7 NHLBI-ESP ss712280321 Apr 25, 2013 (138)
8 ILLUMINA ss780806332 Aug 21, 2014 (142)
9 ILLUMINA ss783488001 Aug 21, 2014 (142)
10 1000GENOMES ss1289864907 Aug 21, 2014 (142)
11 EVA_EXAC ss1685350359 Apr 01, 2015 (144)
12 ILLUMINA ss1751884012 Sep 08, 2015 (146)
13 ILLUMINA ss1917723729 Feb 12, 2016 (147)
14 ILLUMINA ss1945986390 Feb 12, 2016 (147)
15 ILLUMINA ss1958247647 Feb 12, 2016 (147)
16 AMU ss1966653757 Feb 12, 2016 (147)
17 HUMAN_LONGEVITY ss2160376995 Dec 20, 2016 (150)
18 TOPMED ss2322557771 Dec 20, 2016 (150)
19 GNOMAD ss2731191374 Nov 08, 2017 (151)
20 GNOMAD ss2746239605 Nov 08, 2017 (151)
21 GNOMAD ss2752189915 Nov 08, 2017 (151)
22 AFFY ss2984847509 Nov 08, 2017 (151)
23 ILLUMINA ss3021060927 Nov 08, 2017 (151)
24 TOPMED ss3069842261 Nov 08, 2017 (151)
25 ILLUMINA ss3626037195 Oct 11, 2018 (152)
26 ILLUMINA ss3634309676 Oct 11, 2018 (152)
27 ILLUMINA ss3640017040 Oct 11, 2018 (152)
28 ILLUMINA ss3644482241 Oct 11, 2018 (152)
29 ILLUMINA ss3651385430 Oct 11, 2018 (152)
30 ILLUMINA ss3653621242 Oct 11, 2018 (152)
31 ILLUMINA ss3725001143 Jul 12, 2019 (153)
32 ILLUMINA ss3744340411 Jul 12, 2019 (153)
33 ILLUMINA ss3744610638 Jul 12, 2019 (153)
34 EVA ss3745885372 Jul 12, 2019 (153)
35 PAGE_CC ss3770789263 Jul 12, 2019 (153)
36 ILLUMINA ss3772112220 Jul 12, 2019 (153)
37 KHV_HUMAN_GENOMES ss3798907496 Jul 12, 2019 (153)
38 EVA ss3823568936 Apr 25, 2020 (154)
39 SGDP_PRJ ss3848316038 Apr 25, 2020 (154)
40 KRGDB ss3893219893 Apr 25, 2020 (154)
41 KOGIC ss3943938968 Apr 25, 2020 (154)
42 EVA ss3984452958 Apr 27, 2021 (155)
43 TOPMED ss4440697856 Apr 27, 2021 (155)
44 TOMMO_GENOMICS ss5142730695 Apr 27, 2021 (155)
45 EVA ss5236865323 Apr 27, 2021 (155)
46 1000Genomes NC_000001.10 - 17913964 Oct 11, 2018 (152)
47 ExAC NC_000001.10 - 17913964 Oct 11, 2018 (152)
48 gnomAD - Genomes NC_000001.11 - 17587469 Apr 27, 2021 (155)
49 gnomAD - Exomes NC_000001.10 - 17913964 Jul 12, 2019 (153)
50 GO Exome Sequencing Project NC_000001.10 - 17913964 Oct 11, 2018 (152)
51 KOREAN population from KRGDB NC_000001.10 - 17913964 Apr 25, 2020 (154)
52 Korean Genome Project NC_000001.11 - 17587469 Apr 25, 2020 (154)
53 The PAGE Study NC_000001.11 - 17587469 Jul 12, 2019 (153)
54 CNV burdens in cranial meningiomas NC_000001.10 - 17913964 Apr 27, 2021 (155)
55 SGDP_PRJ NC_000001.10 - 17913964 Apr 25, 2020 (154)
56 8.3KJPN NC_000001.10 - 17913964 Apr 27, 2021 (155)
57 TopMed NC_000001.11 - 17587469 Apr 27, 2021 (155)
58 A Vietnamese Genetic Variation Database NC_000001.10 - 17913964 Jul 12, 2019 (153)
59 ALFA NC_000001.11 - 17587469 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
ss217390865, ss217392098 NC_000001.9:17786550:T:C NC_000001.11:17587468:T:C (self)
547348, 4532919, 203982, 27654, 397287, 2260, 333018, 700002, 60479, ss453905588, ss489724724, ss491287904, ss647610310, ss712280321, ss780806332, ss783488001, ss1289864907, ss1685350359, ss1751884012, ss1917723729, ss1945986390, ss1958247647, ss1966653757, ss2322557771, ss2731191374, ss2746239605, ss2752189915, ss2984847509, ss3021060927, ss3626037195, ss3634309676, ss3640017040, ss3644482241, ss3651385430, ss3653621242, ss3744340411, ss3744610638, ss3745885372, ss3772112220, ss3823568936, ss3848316038, ss3893219893, ss3984452958, ss5142730695 NC_000001.10:17913963:T:C NC_000001.11:17587468:T:C (self)
3834926, 316969, 10732, 2701937, 4304191, 7589573136, ss2160376995, ss3069842261, ss3725001143, ss3770789263, ss3798907496, ss3943938968, ss4440697856, ss5236865323 NC_000001.11:17587468:T:C NC_000001.11:17587468: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.

No publications for rs116209107

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