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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.

rs143290224

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr8:1909390 (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 / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000923 (180/195100, ALFA)
A=0.000849 (103/121326, ExAC)
A=0.00165 (130/78636, PAGE_STUDY) (+ 7 more)
A=0.00062 (8/13006, GO-ESP)
A=0.0004 (2/5008, 1000G)
A=0.0005 (2/3854, ALSPAC)
A=0.0005 (2/3708, TWINSUK)
A=0.007 (4/600, NorthernSweden)
A=0.007 (4/534, MGP)
A=0.014 (3/216, Qatari)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ARHGEF10 : 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 8 NC_000008.11:g.1909390G>A
GRCh38.p13 chr 8 NC_000008.11:g.1909390G>C
GRCh38.p13 chr 8 NC_000008.11:g.1909390G>T
GRCh37.p13 chr 8 NC_000008.10:g.1857556G>A
GRCh37.p13 chr 8 NC_000008.10:g.1857556G>C
GRCh37.p13 chr 8 NC_000008.10:g.1857556G>T
ARHGEF10 RefSeqGene (LRG_234) NG_008480.1:g.90408G>A
ARHGEF10 RefSeqGene (LRG_234) NG_008480.1:g.90408G>C
ARHGEF10 RefSeqGene (LRG_234) NG_008480.1:g.90408G>T
GRCh38.p13 chr 8 alt locus HSCHR8_8_CTG1 NT_187576.1:g.92766G>A
GRCh38.p13 chr 8 alt locus HSCHR8_8_CTG1 NT_187576.1:g.92766G>C
GRCh38.p13 chr 8 alt locus HSCHR8_8_CTG1 NT_187576.1:g.92766G>T
Gene: ARHGEF10, Rho guanine nucleotide exchange factor 10 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ARHGEF10 transcript variant 1 NM_014629.4:c.2063G>A S [AGC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform 1 NP_055444.2:p.Ser688Asn S (Ser) > N (Asn) Missense Variant
ARHGEF10 transcript variant 1 NM_014629.4:c.2063G>C S [AGC] > T [ACC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform 1 NP_055444.2:p.Ser688Thr S (Ser) > T (Thr) Missense Variant
ARHGEF10 transcript variant 1 NM_014629.4:c.2063G>T S [AGC] > I [ATC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform 1 NP_055444.2:p.Ser688Ile S (Ser) > I (Ile) Missense Variant
ARHGEF10 transcript variant 3 NM_001308153.2:c.2135G>A S [AGC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform 3 NP_001295082.1:p.Ser712Asn S (Ser) > N (Asn) Missense Variant
ARHGEF10 transcript variant 3 NM_001308153.2:c.2135G>C S [AGC] > T [ACC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform 3 NP_001295082.1:p.Ser712Thr S (Ser) > T (Thr) Missense Variant
ARHGEF10 transcript variant 3 NM_001308153.2:c.2135G>T S [AGC] > I [ATC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform 3 NP_001295082.1:p.Ser712Ile S (Ser) > I (Ile) Missense Variant
ARHGEF10 transcript variant 2 NM_001308152.2:c.1949G>A S [AGC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform 2 NP_001295081.1:p.Ser650Asn S (Ser) > N (Asn) Missense Variant
ARHGEF10 transcript variant 2 NM_001308152.2:c.1949G>C S [AGC] > T [ACC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform 2 NP_001295081.1:p.Ser650Thr S (Ser) > T (Thr) Missense Variant
ARHGEF10 transcript variant 2 NM_001308152.2:c.1949G>T S [AGC] > I [ATC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform 2 NP_001295081.1:p.Ser650Ile S (Ser) > I (Ile) Missense Variant
ARHGEF10 transcript variant X6 XM_011534768.1:c.2066G>A S [AGC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform X5 XP_011533070.1:p.Ser689Asn S (Ser) > N (Asn) Missense Variant
ARHGEF10 transcript variant X6 XM_011534768.1:c.2066G>C S [AGC] > T [ACC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform X5 XP_011533070.1:p.Ser689Thr S (Ser) > T (Thr) Missense Variant
ARHGEF10 transcript variant X6 XM_011534768.1:c.2066G>T S [AGC] > I [ATC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform X5 XP_011533070.1:p.Ser689Ile S (Ser) > I (Ile) Missense Variant
ARHGEF10 transcript variant X3 XM_017014003.1:c.2138G>A S [AGC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform X3 XP_016869492.1:p.Ser713Asn S (Ser) > N (Asn) Missense Variant
ARHGEF10 transcript variant X3 XM_017014003.1:c.2138G>C S [AGC] > T [ACC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform X3 XP_016869492.1:p.Ser713Thr S (Ser) > T (Thr) Missense Variant
ARHGEF10 transcript variant X3 XM_017014003.1:c.2138G>T S [AGC] > I [ATC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform X3 XP_016869492.1:p.Ser713Ile S (Ser) > I (Ile) Missense Variant
ARHGEF10 transcript variant X5 XM_011534767.2:c.1946G>A S [AGC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform X4 XP_011533069.1:p.Ser649Asn S (Ser) > N (Asn) Missense Variant
ARHGEF10 transcript variant X5 XM_011534767.2:c.1946G>C S [AGC] > T [ACC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform X4 XP_011533069.1:p.Ser649Thr S (Ser) > T (Thr) Missense Variant
ARHGEF10 transcript variant X5 XM_011534767.2:c.1946G>T S [AGC] > I [ATC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform X4 XP_011533069.1:p.Ser649Ile S (Ser) > I (Ile) Missense Variant
ARHGEF10 transcript variant X7 XM_011534770.2:c.2066G>A S [AGC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform X6 XP_011533072.1:p.Ser689Asn S (Ser) > N (Asn) Missense Variant
ARHGEF10 transcript variant X7 XM_011534770.2:c.2066G>C S [AGC] > T [ACC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform X6 XP_011533072.1:p.Ser689Thr S (Ser) > T (Thr) Missense Variant
ARHGEF10 transcript variant X7 XM_011534770.2:c.2066G>T S [AGC] > I [ATC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform X6 XP_011533072.1:p.Ser689Ile S (Ser) > I (Ile) Missense Variant
ARHGEF10 transcript variant X1 XM_024447334.1:c.2066G>A S [AGC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform X1 XP_024303102.1:p.Ser689Asn S (Ser) > N (Asn) Missense Variant
ARHGEF10 transcript variant X1 XM_024447334.1:c.2066G>C S [AGC] > T [ACC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform X1 XP_024303102.1:p.Ser689Thr S (Ser) > T (Thr) Missense Variant
ARHGEF10 transcript variant X1 XM_024447334.1:c.2066G>T S [AGC] > I [ATC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform X1 XP_024303102.1:p.Ser689Ile S (Ser) > I (Ile) Missense Variant
ARHGEF10 transcript variant X2 XM_024447335.1:c.2150G>A S [AGC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform X2 XP_024303103.1:p.Ser717Asn S (Ser) > N (Asn) Missense Variant
ARHGEF10 transcript variant X2 XM_024447335.1:c.2150G>C S [AGC] > T [ACC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform X2 XP_024303103.1:p.Ser717Thr S (Ser) > T (Thr) Missense Variant
ARHGEF10 transcript variant X2 XM_024447335.1:c.2150G>T S [AGC] > I [ATC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform X2 XP_024303103.1:p.Ser717Ile S (Ser) > I (Ile) Missense Variant
ARHGEF10 transcript variant X4 XM_005266041.4:c.2066G>A S [AGC] > N [AAC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform X1 XP_005266098.1:p.Ser689Asn S (Ser) > N (Asn) Missense Variant
ARHGEF10 transcript variant X4 XM_005266041.4:c.2066G>C S [AGC] > T [ACC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform X1 XP_005266098.1:p.Ser689Thr S (Ser) > T (Thr) Missense Variant
ARHGEF10 transcript variant X4 XM_005266041.4:c.2066G>T S [AGC] > I [ATC] Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform X1 XP_005266098.1:p.Ser689Ile S (Ser) > I (Ile) Missense 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.

Allele: A (allele ID: 361190 )
ClinVar Accession Disease Names Clinical Significance
RCV000415093.1 Slowed nerve conduction velocity, autosomal dominant Uncertain-Significance

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 195100 G=0.999077 A=0.000923, C=0.000000
European Sub 169874 G=0.999199 A=0.000801, C=0.000000
African Sub 4954 G=0.9996 A=0.0004, C=0.0000
African Others Sub 176 G=1.000 A=0.000, C=0.000
African American Sub 4778 G=0.9996 A=0.0004, C=0.0000
Asian Sub 3392 G=1.0000 A=0.0000, C=0.0000
East Asian Sub 2710 G=1.0000 A=0.0000, C=0.0000
Other Asian Sub 682 G=1.000 A=0.000, C=0.000
Latin American 1 Sub 792 G=0.996 A=0.004, C=0.000
Latin American 2 Sub 966 G=1.000 A=0.000, C=0.000
South Asian Sub 280 G=1.000 A=0.000, C=0.000
Other Sub 14842 G=0.99737 A=0.00263, C=0.00000


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
ExAC Global Study-wide 121326 G=0.999151 A=0.000849
ExAC Europe Sub 73278 G=0.99903 A=0.00097
ExAC Asian Sub 25162 G=0.99956 A=0.00044
ExAC American Sub 11578 G=0.99853 A=0.00147
ExAC African Sub 10402 G=0.99990 A=0.00010
ExAC Other Sub 906 G=0.997 A=0.003
The PAGE Study Global Study-wide 78636 G=0.99835 A=0.00165
The PAGE Study AfricanAmerican Sub 32476 G=0.99988 A=0.00012
The PAGE Study Mexican Sub 10808 G=0.99787 A=0.00213
The PAGE Study Asian Sub 8312 G=1.0000 A=0.0000
The PAGE Study PuertoRican Sub 7914 G=0.9924 A=0.0076
The PAGE Study NativeHawaiian Sub 4520 G=0.9989 A=0.0011
The PAGE Study Cuban Sub 4230 G=0.9965 A=0.0035
The PAGE Study Dominican Sub 3828 G=0.9969 A=0.0031
The PAGE Study CentralAmerican Sub 2450 G=0.9984 A=0.0016
The PAGE Study SouthAmerican Sub 1982 G=0.9980 A=0.0020
The PAGE Study NativeAmerican Sub 1260 G=0.9976 A=0.0024
The PAGE Study SouthAsian Sub 856 G=1.000 A=0.000
GO Exome Sequencing Project Global Study-wide 13006 G=0.99938 A=0.00062
GO Exome Sequencing Project European American Sub 8600 G=0.9993 A=0.0007
GO Exome Sequencing Project African American Sub 4406 G=0.9995 A=0.0005
1000Genomes Global Study-wide 5008 G=0.9996 A=0.0004
1000Genomes African Sub 1322 G=1.0000 A=0.0000
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=0.9990 A=0.0010
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=0.999 A=0.001
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9995 A=0.0005
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9995 A=0.0005
Northern Sweden ACPOP Study-wide 600 G=0.993 A=0.007
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.993 A=0.007
Qatari Global Study-wide 216 G=0.986 A=0.014
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 C T
GRCh38.p13 chr 8 NC_000008.11:g.1909390= NC_000008.11:g.1909390G>A NC_000008.11:g.1909390G>C NC_000008.11:g.1909390G>T
GRCh37.p13 chr 8 NC_000008.10:g.1857556= NC_000008.10:g.1857556G>A NC_000008.10:g.1857556G>C NC_000008.10:g.1857556G>T
ARHGEF10 RefSeqGene (LRG_234) NG_008480.1:g.90408= NG_008480.1:g.90408G>A NG_008480.1:g.90408G>C NG_008480.1:g.90408G>T
ARHGEF10 transcript variant 1 NM_014629.4:c.2063= NM_014629.4:c.2063G>A NM_014629.4:c.2063G>C NM_014629.4:c.2063G>T
ARHGEF10 transcript variant 1 NM_014629.3:c.2063= NM_014629.3:c.2063G>A NM_014629.3:c.2063G>C NM_014629.3:c.2063G>T
ARHGEF10 transcript NM_014629.2:c.2063= NM_014629.2:c.2063G>A NM_014629.2:c.2063G>C NM_014629.2:c.2063G>T
ARHGEF10 transcript variant 3 NM_001308153.2:c.2135= NM_001308153.2:c.2135G>A NM_001308153.2:c.2135G>C NM_001308153.2:c.2135G>T
ARHGEF10 transcript variant 3 NM_001308153.1:c.2135= NM_001308153.1:c.2135G>A NM_001308153.1:c.2135G>C NM_001308153.1:c.2135G>T
ARHGEF10 transcript variant 2 NM_001308152.2:c.1949= NM_001308152.2:c.1949G>A NM_001308152.2:c.1949G>C NM_001308152.2:c.1949G>T
ARHGEF10 transcript variant 2 NM_001308152.1:c.1949= NM_001308152.1:c.1949G>A NM_001308152.1:c.1949G>C NM_001308152.1:c.1949G>T
GRCh38.p13 chr 8 alt locus HSCHR8_8_CTG1 NT_187576.1:g.92766= NT_187576.1:g.92766G>A NT_187576.1:g.92766G>C NT_187576.1:g.92766G>T
ARHGEF10 transcript variant X4 XM_005266041.4:c.2066= XM_005266041.4:c.2066G>A XM_005266041.4:c.2066G>C XM_005266041.4:c.2066G>T
ARHGEF10 transcript variant X3 XM_005266041.1:c.2066= XM_005266041.1:c.2066G>A XM_005266041.1:c.2066G>C XM_005266041.1:c.2066G>T
ARHGEF10 transcript variant X5 XM_011534767.2:c.1946= XM_011534767.2:c.1946G>A XM_011534767.2:c.1946G>C XM_011534767.2:c.1946G>T
ARHGEF10 transcript variant X7 XM_011534770.2:c.2066= XM_011534770.2:c.2066G>A XM_011534770.2:c.2066G>C XM_011534770.2:c.2066G>T
ARHGEF10 transcript variant X1 XM_024447334.1:c.2066= XM_024447334.1:c.2066G>A XM_024447334.1:c.2066G>C XM_024447334.1:c.2066G>T
ARHGEF10 transcript variant X2 XM_024447335.1:c.2150= XM_024447335.1:c.2150G>A XM_024447335.1:c.2150G>C XM_024447335.1:c.2150G>T
ARHGEF10 transcript variant X6 XM_011534768.1:c.2066= XM_011534768.1:c.2066G>A XM_011534768.1:c.2066G>C XM_011534768.1:c.2066G>T
ARHGEF10 transcript variant X3 XM_017014003.1:c.2138= XM_017014003.1:c.2138G>A XM_017014003.1:c.2138G>C XM_017014003.1:c.2138G>T
rho guanine nucleotide exchange factor 10 isoform 1 NP_055444.2:p.Ser688= NP_055444.2:p.Ser688Asn NP_055444.2:p.Ser688Thr NP_055444.2:p.Ser688Ile
rho guanine nucleotide exchange factor 10 isoform 3 NP_001295082.1:p.Ser712= NP_001295082.1:p.Ser712Asn NP_001295082.1:p.Ser712Thr NP_001295082.1:p.Ser712Ile
rho guanine nucleotide exchange factor 10 isoform 2 NP_001295081.1:p.Ser650= NP_001295081.1:p.Ser650Asn NP_001295081.1:p.Ser650Thr NP_001295081.1:p.Ser650Ile
rho guanine nucleotide exchange factor 10 isoform X1 XP_005266098.1:p.Ser689= XP_005266098.1:p.Ser689Asn XP_005266098.1:p.Ser689Thr XP_005266098.1:p.Ser689Ile
rho guanine nucleotide exchange factor 10 isoform X4 XP_011533069.1:p.Ser649= XP_011533069.1:p.Ser649Asn XP_011533069.1:p.Ser649Thr XP_011533069.1:p.Ser649Ile
rho guanine nucleotide exchange factor 10 isoform X6 XP_011533072.1:p.Ser689= XP_011533072.1:p.Ser689Asn XP_011533072.1:p.Ser689Thr XP_011533072.1:p.Ser689Ile
rho guanine nucleotide exchange factor 10 isoform X1 XP_024303102.1:p.Ser689= XP_024303102.1:p.Ser689Asn XP_024303102.1:p.Ser689Thr XP_024303102.1:p.Ser689Ile
rho guanine nucleotide exchange factor 10 isoform X2 XP_024303103.1:p.Ser717= XP_024303103.1:p.Ser717Asn XP_024303103.1:p.Ser717Thr XP_024303103.1:p.Ser717Ile
rho guanine nucleotide exchange factor 10 isoform X5 XP_011533070.1:p.Ser689= XP_011533070.1:p.Ser689Asn XP_011533070.1:p.Ser689Thr XP_011533070.1:p.Ser689Ile
rho guanine nucleotide exchange factor 10 isoform X3 XP_016869492.1:p.Ser713= XP_016869492.1:p.Ser713Asn XP_016869492.1:p.Ser713Thr XP_016869492.1:p.Ser713Ile
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#.

42 SubSNP, 16 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss342251850 May 09, 2011 (134)
2 EXOME_CHIP ss491409184 May 04, 2012 (137)
3 CLINSEQ_SNP ss491919454 May 04, 2012 (137)
4 ILLUMINA ss780866756 Sep 08, 2015 (146)
5 ILLUMINA ss783551588 Sep 08, 2015 (146)
6 1000GENOMES ss1328099518 Aug 21, 2014 (142)
7 EVA_UK10K_ALSPAC ss1619710357 Apr 01, 2015 (144)
8 EVA_UK10K_TWINSUK ss1662704390 Apr 01, 2015 (144)
9 EVA_EXAC ss1689059572 Apr 01, 2015 (144)
10 EVA_MGP ss1711189241 Apr 01, 2015 (144)
11 ILLUMINA ss1752722450 Sep 08, 2015 (146)
12 ILLUMINA ss1917824986 Feb 12, 2016 (147)
13 WEILL_CORNELL_DGM ss1928329915 Feb 12, 2016 (147)
14 ILLUMINA ss1946227081 Feb 12, 2016 (147)
15 ILLUMINA ss1959076012 Feb 12, 2016 (147)
16 HUMAN_LONGEVITY ss2299728086 Dec 20, 2016 (150)
17 TOPMED ss2469316113 Dec 20, 2016 (150)
18 GNOMAD ss2736944294 Nov 08, 2017 (151)
19 GNOMAD ss2747980556 Nov 08, 2017 (151)
20 GNOMAD ss2861848324 Nov 08, 2017 (151)
21 AFFY ss2985428223 Nov 08, 2017 (151)
22 SWEGEN ss3002451431 Nov 08, 2017 (151)
23 ILLUMINA ss3022806381 Nov 08, 2017 (151)
24 TOPMED ss3550679489 Nov 08, 2017 (151)
25 TOPMED ss3550679490 Nov 08, 2017 (151)
26 ILLUMINA ss3629968435 Oct 12, 2018 (152)
27 ILLUMINA ss3635152675 Oct 12, 2018 (152)
28 ILLUMINA ss3640859965 Oct 12, 2018 (152)
29 ILLUMINA ss3644960251 Oct 12, 2018 (152)
30 ILLUMINA ss3653343093 Oct 12, 2018 (152)
31 ILLUMINA ss3654189833 Oct 12, 2018 (152)
32 ILLUMINA ss3726503759 Jul 13, 2019 (153)
33 ACPOP ss3735284944 Jul 13, 2019 (153)
34 ILLUMINA ss3744576222 Jul 13, 2019 (153)
35 ILLUMINA ss3745452578 Jul 13, 2019 (153)
36 PAGE_CC ss3771415619 Jul 13, 2019 (153)
37 ILLUMINA ss3772945235 Jul 13, 2019 (153)
38 EVA ss3824341536 Apr 26, 2020 (154)
39 FSA-LAB ss3984389765 Apr 26, 2021 (155)
40 EVA ss3986411175 Apr 26, 2021 (155)
41 TOPMED ss4771751390 Apr 26, 2021 (155)
42 TOPMED ss4771751391 Apr 26, 2021 (155)
43 1000Genomes NC_000008.10 - 1857556 Oct 12, 2018 (152)
44 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 1857556 Oct 12, 2018 (152)
45 ExAC NC_000008.10 - 1857556 Oct 12, 2018 (152)
46 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 283566987 (NC_000008.11:1909389:G:A 115/140296)
Row 283566988 (NC_000008.11:1909389:G:C 1/140298)

- Apr 26, 2021 (155)
47 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 283566987 (NC_000008.11:1909389:G:A 115/140296)
Row 283566988 (NC_000008.11:1909389:G:C 1/140298)

- Apr 26, 2021 (155)
48 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 6108117 (NC_000008.10:1857555:G:G 251244/251452, NC_000008.10:1857555:G:A 208/251452)
Row 6108118 (NC_000008.10:1857555:G:G 251451/251452, NC_000008.10:1857555:G:T 1/251452)

- Jul 13, 2019 (153)
49 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 6108117 (NC_000008.10:1857555:G:G 251244/251452, NC_000008.10:1857555:G:A 208/251452)
Row 6108118 (NC_000008.10:1857555:G:G 251451/251452, NC_000008.10:1857555:G:T 1/251452)

- Jul 13, 2019 (153)
50 GO Exome Sequencing Project NC_000008.10 - 1857556 Oct 12, 2018 (152)
51 Medical Genome Project healthy controls from Spanish population NC_000008.10 - 1857556 Apr 26, 2020 (154)
52 Northern Sweden NC_000008.10 - 1857556 Jul 13, 2019 (153)
53 The PAGE Study NC_000008.11 - 1909390 Jul 13, 2019 (153)
54 Qatari NC_000008.10 - 1857556 Apr 26, 2020 (154)
55 TopMed

Submission ignored due to conflicting rows:
Row 609128950 (NC_000008.11:1909389:G:A 349/264690)
Row 609128951 (NC_000008.11:1909389:G:C 1/264690)

- Apr 26, 2021 (155)
56 TopMed

Submission ignored due to conflicting rows:
Row 609128950 (NC_000008.11:1909389:G:A 349/264690)
Row 609128951 (NC_000008.11:1909389:G:C 1/264690)

- Apr 26, 2021 (155)
57 UK 10K study - Twins NC_000008.10 - 1857556 Oct 12, 2018 (152)
58 ALFA NC_000008.11 - 1909390 Apr 26, 2021 (155)
59 ClinVar RCV000415093.1 Oct 12, 2018 (152)
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
ss491919454 NC_000008.9:1844962:G:A NC_000008.11:1909389:G:A (self)
40177221, 22344564, 9150202, 799399, 305001, 8569809, 10371845, 22344564, ss342251850, ss491409184, ss780866756, ss783551588, ss1328099518, ss1619710357, ss1662704390, ss1689059572, ss1711189241, ss1752722450, ss1917824986, ss1928329915, ss1946227081, ss1959076012, ss2469316113, ss2736944294, ss2747980556, ss2861848324, ss2985428223, ss3002451431, ss3022806381, ss3629968435, ss3635152675, ss3640859965, ss3644960251, ss3653343093, ss3654189833, ss3735284944, ss3744576222, ss3745452578, ss3772945235, ss3824341536, ss3984389765, ss3986411175 NC_000008.10:1857555:G:A NC_000008.11:1909389:G:A (self)
RCV000415093.1, 637088, 380819466, 11518792364, ss2299728086, ss3550679489, ss3726503759, ss3771415619, ss4771751390 NC_000008.11:1909389:G:A NC_000008.11:1909389:G:A (self)
380819466, 11518792364, ss3550679490, ss4771751391 NC_000008.11:1909389:G:C NC_000008.11:1909389:G:C (self)
ss2736944294 NC_000008.10:1857555:G:T NC_000008.11:1909389:G:T (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 rs143290224

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