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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

Welcome to the Reference SNP (rs) Report

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

Reference SNP (rs) Report

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

rs141944878

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:99880771 (GRCh38.p14) Help

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

Alleles
G>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.00119 (33/27826, ALFA)
T=0.00146 (19/13006, GO-ESP)
T=0.0005 (3/6404, 1000G_30x) (+ 5 more)
T=0.0016 (7/4480, Estonian)
T=0.0021 (8/3854, ALSPAC)
T=0.0027 (10/3708, TWINSUK)
A=0.0003 (1/2922, KOREAN)
T=0.005 (5/998, GoNL)
Clinical Significance
Reported in ClinVar
Gene : Consequence
AGL : Synonymous Variant
Publications
0 citations
Genomic View
See rs on genome

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

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 27826 G=0.99881 A=0.00000, C=0.00000, T=0.00119
European Sub 20298 G=0.99887 A=0.00000, C=0.00000, T=0.00113
African Sub 3538 G=1.0000 A=0.0000, C=0.0000, T=0.0000
African Others Sub 122 G=1.000 A=0.000, C=0.000, T=0.000
African American Sub 3416 G=1.0000 A=0.0000, C=0.0000, T=0.0000
Asian Sub 168 G=1.000 A=0.000, C=0.000, T=0.000
East Asian Sub 112 G=1.000 A=0.000, C=0.000, T=0.000
Other Asian Sub 56 G=1.00 A=0.00, C=0.00, T=0.00
Latin American 1 Sub 146 G=1.000 A=0.000, C=0.000, T=0.000
Latin American 2 Sub 610 G=1.000 A=0.000, C=0.000, T=0.000
South Asian Sub 98 G=1.00 A=0.00, C=0.00, T=0.00
Other Sub 2968 G=0.9966 A=0.0000, C=0.0000, T=0.0034


Help

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

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 27826 G=0.99881 A=0.00000, C=0.00000, T=0.00119
Allele Frequency Aggregator European Sub 20298 G=0.99887 A=0.00000, C=0.00000, T=0.00113
Allele Frequency Aggregator African Sub 3538 G=1.0000 A=0.0000, C=0.0000, T=0.0000
Allele Frequency Aggregator Other Sub 2968 G=0.9966 A=0.0000, C=0.0000, T=0.0034
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 A=0.000, C=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 168 G=1.000 A=0.000, C=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 A=0.000, C=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 A=0.00, C=0.00, T=0.00
GO Exome Sequencing Project Global Study-wide 13006 G=0.99854 T=0.00146
GO Exome Sequencing Project European American Sub 8600 G=0.9981 T=0.0019
GO Exome Sequencing Project African American Sub 4406 G=0.9993 T=0.0007
1000Genomes_30x Global Study-wide 6404 G=0.9994 A=0.0002, T=0.0005
1000Genomes_30x African Sub 1786 G=1.0000 A=0.0000, T=0.0000
1000Genomes_30x Europe Sub 1266 G=0.9976 A=0.0000, T=0.0024
1000Genomes_30x South Asian Sub 1202 G=0.9992 A=0.0008, T=0.0000
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000, T=0.0000
1000Genomes_30x American Sub 980 G=1.000 A=0.000, T=0.000
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9984 T=0.0016
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9979 T=0.0021
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9973 T=0.0027
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9997 A=0.0003
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.995 T=0.005
Help

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

Genomic Placements
Sequence name Change
GRCh38.p14 chr 1 NC_000001.11:g.99880771G>A
GRCh38.p14 chr 1 NC_000001.11:g.99880771G>C
GRCh38.p14 chr 1 NC_000001.11:g.99880771G>T
GRCh37.p13 chr 1 NC_000001.10:g.100346327G>A
GRCh37.p13 chr 1 NC_000001.10:g.100346327G>C
GRCh37.p13 chr 1 NC_000001.10:g.100346327G>T
AGL RefSeqGene NG_012865.1:g.35688G>A
AGL RefSeqGene NG_012865.1:g.35688G>C
AGL RefSeqGene NG_012865.1:g.35688G>T
Gene: AGL, amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
AGL transcript variant 4 NM_000028.2:c.1875G>A T [ACG] > T [ACA] Coding Sequence Variant
glycogen debranching enzyme isoform 1 NP_000019.2:p.Thr625= T (Thr) > T (Thr) Synonymous Variant
AGL transcript variant 4 NM_000028.2:c.1875G>C T [ACG] > T [ACC] Coding Sequence Variant
glycogen debranching enzyme isoform 1 NP_000019.2:p.Thr625= T (Thr) > T (Thr) Synonymous Variant
AGL transcript variant 4 NM_000028.2:c.1875G>T T [ACG] > T [ACT] Coding Sequence Variant
glycogen debranching enzyme isoform 1 NP_000019.2:p.Thr625= T (Thr) > T (Thr) Synonymous Variant
AGL transcript variant 3 NM_000643.2:c.1875G>A T [ACG] > T [ACA] Coding Sequence Variant
glycogen debranching enzyme isoform 1 NP_000634.2:p.Thr625= T (Thr) > T (Thr) Synonymous Variant
AGL transcript variant 3 NM_000643.2:c.1875G>C T [ACG] > T [ACC] Coding Sequence Variant
glycogen debranching enzyme isoform 1 NP_000634.2:p.Thr625= T (Thr) > T (Thr) Synonymous Variant
AGL transcript variant 3 NM_000643.2:c.1875G>T T [ACG] > T [ACT] Coding Sequence Variant
glycogen debranching enzyme isoform 1 NP_000634.2:p.Thr625= T (Thr) > T (Thr) Synonymous Variant
AGL transcript variant 6 NM_000646.2:c.1827G>A T [ACG] > T [ACA] Coding Sequence Variant
glycogen debranching enzyme isoform 3 NP_000637.2:p.Thr609= T (Thr) > T (Thr) Synonymous Variant
AGL transcript variant 6 NM_000646.2:c.1827G>C T [ACG] > T [ACC] Coding Sequence Variant
glycogen debranching enzyme isoform 3 NP_000637.2:p.Thr609= T (Thr) > T (Thr) Synonymous Variant
AGL transcript variant 6 NM_000646.2:c.1827G>T T [ACG] > T [ACT] Coding Sequence Variant
glycogen debranching enzyme isoform 3 NP_000637.2:p.Thr609= T (Thr) > T (Thr) Synonymous Variant
AGL transcript variant 2 NM_000644.2:c.1875G>A T [ACG] > T [ACA] Coding Sequence Variant
glycogen debranching enzyme isoform 1 NP_000635.2:p.Thr625= T (Thr) > T (Thr) Synonymous Variant
AGL transcript variant 2 NM_000644.2:c.1875G>C T [ACG] > T [ACC] Coding Sequence Variant
glycogen debranching enzyme isoform 1 NP_000635.2:p.Thr625= T (Thr) > T (Thr) Synonymous Variant
AGL transcript variant 2 NM_000644.2:c.1875G>T T [ACG] > T [ACT] Coding Sequence Variant
glycogen debranching enzyme isoform 1 NP_000635.2:p.Thr625= T (Thr) > T (Thr) Synonymous Variant
AGL transcript variant 1 NM_000642.3:c.1875G>A T [ACG] > T [ACA] Coding Sequence Variant
glycogen debranching enzyme isoform 1 NP_000633.2:p.Thr625= T (Thr) > T (Thr) Synonymous Variant
AGL transcript variant 1 NM_000642.3:c.1875G>C T [ACG] > T [ACC] Coding Sequence Variant
glycogen debranching enzyme isoform 1 NP_000633.2:p.Thr625= T (Thr) > T (Thr) Synonymous Variant
AGL transcript variant 1 NM_000642.3:c.1875G>T T [ACG] > T [ACT] Coding Sequence Variant
glycogen debranching enzyme isoform 1 NP_000633.2:p.Thr625= T (Thr) > T (Thr) Synonymous Variant
AGL transcript variant X1 XM_005270557.3:c.1875G>A T [ACG] > T [ACA] Coding Sequence Variant
glycogen debranching enzyme isoform X1 XP_005270614.1:p.Thr625= T (Thr) > T (Thr) Synonymous Variant
AGL transcript variant X1 XM_005270557.3:c.1875G>C T [ACG] > T [ACC] Coding Sequence Variant
glycogen debranching enzyme isoform X1 XP_005270614.1:p.Thr625= T (Thr) > T (Thr) Synonymous Variant
AGL transcript variant X1 XM_005270557.3:c.1875G>T T [ACG] > T [ACT] Coding Sequence Variant
glycogen debranching enzyme isoform X1 XP_005270614.1:p.Thr625= T (Thr) > T (Thr) Synonymous Variant
AGL transcript variant X2 XM_017000501.3:c.135G>A T [ACG] > T [ACA] Coding Sequence Variant
glycogen debranching enzyme isoform X2 XP_016855990.1:p.Thr45= T (Thr) > T (Thr) Synonymous Variant
AGL transcript variant X2 XM_017000501.3:c.135G>C T [ACG] > T [ACC] Coding Sequence Variant
glycogen debranching enzyme isoform X2 XP_016855990.1:p.Thr45= T (Thr) > T (Thr) Synonymous Variant
AGL transcript variant X2 XM_017000501.3:c.135G>T T [ACG] > T [ACT] Coding Sequence Variant
glycogen debranching enzyme isoform X2 XP_016855990.1:p.Thr45= T (Thr) > T (Thr) Synonymous 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: 707619 )
ClinVar Accession Disease Names Clinical Significance
RCV000973786.6 Glycogen storage disease type III Likely-Benign
Allele: C (allele ID: 1110974 )
ClinVar Accession Disease Names Clinical Significance
RCV001460818.4 Glycogen storage disease type III Likely-Benign
Allele: T (allele ID: 365564 )
ClinVar Accession Disease Names Clinical Significance
RCV000675328.15 not provided Conflicting-Interpretations-Of-Pathogenicity
RCV001085237.10 Glycogen storage disease type III Conflicting-Interpretations-Of-Pathogenicity
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.p14 chr 1 NC_000001.11:g.99880771= NC_000001.11:g.99880771G>A NC_000001.11:g.99880771G>C NC_000001.11:g.99880771G>T
GRCh37.p13 chr 1 NC_000001.10:g.100346327= NC_000001.10:g.100346327G>A NC_000001.10:g.100346327G>C NC_000001.10:g.100346327G>T
AGL RefSeqGene NG_012865.1:g.35688= NG_012865.1:g.35688G>A NG_012865.1:g.35688G>C NG_012865.1:g.35688G>T
AGL transcript variant 1 NM_000642.3:c.1875= NM_000642.3:c.1875G>A NM_000642.3:c.1875G>C NM_000642.3:c.1875G>T
AGL transcript variant 1 NM_000642.2:c.1875= NM_000642.2:c.1875G>A NM_000642.2:c.1875G>C NM_000642.2:c.1875G>T
AGL transcript variant 4 NM_000028.2:c.1875= NM_000028.2:c.1875G>A NM_000028.2:c.1875G>C NM_000028.2:c.1875G>T
AGL transcript variant 6 NM_000646.2:c.1827= NM_000646.2:c.1827G>A NM_000646.2:c.1827G>C NM_000646.2:c.1827G>T
AGL transcript variant 3 NM_000643.2:c.1875= NM_000643.2:c.1875G>A NM_000643.2:c.1875G>C NM_000643.2:c.1875G>T
AGL transcript variant 2 NM_000644.2:c.1875= NM_000644.2:c.1875G>A NM_000644.2:c.1875G>C NM_000644.2:c.1875G>T
AGL transcript variant X1 XM_005270557.3:c.1875= XM_005270557.3:c.1875G>A XM_005270557.3:c.1875G>C XM_005270557.3:c.1875G>T
AGL transcript variant X1 XM_005270557.2:c.1875= XM_005270557.2:c.1875G>A XM_005270557.2:c.1875G>C XM_005270557.2:c.1875G>T
AGL transcript variant X1 XM_005270557.1:c.1875= XM_005270557.1:c.1875G>A XM_005270557.1:c.1875G>C XM_005270557.1:c.1875G>T
AGL transcript variant X2 XM_017000501.3:c.135= XM_017000501.3:c.135G>A XM_017000501.3:c.135G>C XM_017000501.3:c.135G>T
AGL transcript variant X2 XM_017000501.2:c.135= XM_017000501.2:c.135G>A XM_017000501.2:c.135G>C XM_017000501.2:c.135G>T
AGL transcript variant X2 XM_017000501.1:c.135= XM_017000501.1:c.135G>A XM_017000501.1:c.135G>C XM_017000501.1:c.135G>T
AGL transcript variant 5 NM_000645.2:c.1824= NM_000645.2:c.1824G>A NM_000645.2:c.1824G>C NM_000645.2:c.1824G>T
glycogen debranching enzyme isoform 1 NP_000633.2:p.Thr625= NP_000633.2:p.Thr625= NP_000633.2:p.Thr625= NP_000633.2:p.Thr625=
glycogen debranching enzyme isoform 1 NP_000019.2:p.Thr625= NP_000019.2:p.Thr625= NP_000019.2:p.Thr625= NP_000019.2:p.Thr625=
glycogen debranching enzyme isoform 3 NP_000637.2:p.Thr609= NP_000637.2:p.Thr609= NP_000637.2:p.Thr609= NP_000637.2:p.Thr609=
glycogen debranching enzyme isoform 1 NP_000634.2:p.Thr625= NP_000634.2:p.Thr625= NP_000634.2:p.Thr625= NP_000634.2:p.Thr625=
glycogen debranching enzyme isoform 1 NP_000635.2:p.Thr625= NP_000635.2:p.Thr625= NP_000635.2:p.Thr625= NP_000635.2:p.Thr625=
glycogen debranching enzyme isoform X1 XP_005270614.1:p.Thr625= XP_005270614.1:p.Thr625= XP_005270614.1:p.Thr625= XP_005270614.1:p.Thr625=
glycogen debranching enzyme isoform X2 XP_016855990.1:p.Thr45= XP_016855990.1:p.Thr45= XP_016855990.1:p.Thr45= XP_016855990.1:p.Thr45=
glycogen debranching enzyme isoform 2 NP_000636.2:p.Thr608= NP_000636.2:p.Thr608= NP_000636.2:p.Thr608= NP_000636.2:p.Thr608=
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#.

31 SubSNP, 20 Frequency, 4 ClinVar submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss341977146 May 09, 2011 (134)
2 1000GENOMES ss454265905 Sep 17, 2011 (135)
3 1000GENOMES ss489753908 May 04, 2012 (137)
4 CLINSEQ_SNP ss491598791 May 04, 2012 (137)
5 EVA-GONL ss975485484 Aug 21, 2014 (142)
6 EVA_DECODE ss1584863576 Apr 01, 2015 (144)
7 EVA_UK10K_ALSPAC ss1600821482 Apr 01, 2015 (144)
8 EVA_UK10K_TWINSUK ss1643815515 Apr 01, 2015 (144)
9 EVA_EXAC ss1685653079 Apr 01, 2015 (144)
10 EVA_EXAC ss1685653080 Apr 01, 2015 (144)
11 EVA_EXAC ss1685653081 Apr 01, 2015 (144)
12 HUMAN_LONGEVITY ss2165048082 Dec 20, 2016 (150)
13 GNOMAD ss2731661657 Nov 08, 2017 (151)
14 GNOMAD ss2746379821 Nov 08, 2017 (151)
15 GNOMAD ss2758660901 Nov 08, 2017 (151)
16 SWEGEN ss2987309088 Nov 08, 2017 (151)
17 EGCUT_WGS ss3655394250 Jul 12, 2019 (153)
18 EVA ss3823634171 Apr 25, 2020 (154)
19 EVA ss3825570176 Apr 25, 2020 (154)
20 KRGDB ss3894560383 Apr 25, 2020 (154)
21 EVA ss3986128674 Apr 25, 2021 (155)
22 TOPMED ss4460769356 Apr 25, 2021 (155)
23 TOPMED ss4460769357 Apr 25, 2021 (155)
24 TOPMED ss4460769358 Apr 25, 2021 (155)
25 EVA ss5237632460 Oct 12, 2022 (156)
26 1000G_HIGH_COVERAGE ss5243328782 Oct 12, 2022 (156)
27 HUGCELL_USP ss5444280640 Oct 12, 2022 (156)
28 1000G_HIGH_COVERAGE ss5516174918 Oct 12, 2022 (156)
29 SANFORD_IMAGENETICS ss5626136002 Oct 12, 2022 (156)
30 EVA ss5909481621 Oct 12, 2022 (156)
31 EVA ss5937997275 Oct 12, 2022 (156)
32 1000Genomes_30x NC_000001.11 - 99880771 Oct 12, 2022 (156)
33 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 100346327 Oct 11, 2018 (152)
34 Genetic variation in the Estonian population NC_000001.10 - 100346327 Oct 11, 2018 (152)
35 ExAC

Submission ignored due to conflicting rows:
Row 4859272 (NC_000001.10:100346326:G:G 121189/121360, NC_000001.10:100346326:G:T 171/121360)
Row 4859273 (NC_000001.10:100346326:G:G 121349/121360, NC_000001.10:100346326:G:A 11/121360)
Row 4859274 (NC_000001.10:100346326:G:G 121356/121360, NC_000001.10:100346326:G:C 4/121360)

- Oct 11, 2018 (152)
36 ExAC

Submission ignored due to conflicting rows:
Row 4859272 (NC_000001.10:100346326:G:G 121189/121360, NC_000001.10:100346326:G:T 171/121360)
Row 4859273 (NC_000001.10:100346326:G:G 121349/121360, NC_000001.10:100346326:G:A 11/121360)
Row 4859274 (NC_000001.10:100346326:G:G 121356/121360, NC_000001.10:100346326:G:C 4/121360)

- Oct 11, 2018 (152)
37 ExAC

Submission ignored due to conflicting rows:
Row 4859272 (NC_000001.10:100346326:G:G 121189/121360, NC_000001.10:100346326:G:T 171/121360)
Row 4859273 (NC_000001.10:100346326:G:G 121349/121360, NC_000001.10:100346326:G:A 11/121360)
Row 4859274 (NC_000001.10:100346326:G:G 121356/121360, NC_000001.10:100346326:G:C 4/121360)

- Oct 11, 2018 (152)
38 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 20356090 (NC_000001.11:99880770:G:A 0/140176)
Row 20356091 (NC_000001.11:99880770:G:C 2/140176)
Row 20356092 (NC_000001.11:99880770:G:T 194/140174)

- Apr 25, 2021 (155)
39 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 20356090 (NC_000001.11:99880770:G:A 0/140176)
Row 20356091 (NC_000001.11:99880770:G:C 2/140176)
Row 20356092 (NC_000001.11:99880770:G:T 194/140174)

- Apr 25, 2021 (155)
40 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 20356090 (NC_000001.11:99880770:G:A 0/140176)
Row 20356091 (NC_000001.11:99880770:G:C 2/140176)
Row 20356092 (NC_000001.11:99880770:G:T 194/140174)

- Apr 25, 2021 (155)
41 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 683529 (NC_000001.10:100346326:G:G 251296/251318, NC_000001.10:100346326:G:A 22/251318)
Row 683530 (NC_000001.10:100346326:G:G 251312/251318, NC_000001.10:100346326:G:C 6/251318)
Row 683531 (NC_000001.10:100346326:G:G 250946/251318, NC_000001.10:100346326:G:T 372/251318)

- Jul 12, 2019 (153)
42 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 683529 (NC_000001.10:100346326:G:G 251296/251318, NC_000001.10:100346326:G:A 22/251318)
Row 683530 (NC_000001.10:100346326:G:G 251312/251318, NC_000001.10:100346326:G:C 6/251318)
Row 683531 (NC_000001.10:100346326:G:G 250946/251318, NC_000001.10:100346326:G:T 372/251318)

- Jul 12, 2019 (153)
43 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 683529 (NC_000001.10:100346326:G:G 251296/251318, NC_000001.10:100346326:G:A 22/251318)
Row 683530 (NC_000001.10:100346326:G:G 251312/251318, NC_000001.10:100346326:G:C 6/251318)
Row 683531 (NC_000001.10:100346326:G:G 250946/251318, NC_000001.10:100346326:G:T 372/251318)

- Jul 12, 2019 (153)
44 GO Exome Sequencing Project NC_000001.10 - 100346327 Oct 11, 2018 (152)
45 Genome of the Netherlands Release 5 NC_000001.10 - 100346327 Apr 25, 2020 (154)
46 KOREAN population from KRGDB NC_000001.10 - 100346327 Apr 25, 2020 (154)
47 TopMed

Submission ignored due to conflicting rows:
Row 24375691 (NC_000001.11:99880770:G:A 2/264690)
Row 24375692 (NC_000001.11:99880770:G:C 5/264690)
Row 24375693 (NC_000001.11:99880770:G:T 366/264690)

- Apr 25, 2021 (155)
48 TopMed

Submission ignored due to conflicting rows:
Row 24375691 (NC_000001.11:99880770:G:A 2/264690)
Row 24375692 (NC_000001.11:99880770:G:C 5/264690)
Row 24375693 (NC_000001.11:99880770:G:T 366/264690)

- Apr 25, 2021 (155)
49 TopMed

Submission ignored due to conflicting rows:
Row 24375691 (NC_000001.11:99880770:G:A 2/264690)
Row 24375692 (NC_000001.11:99880770:G:C 5/264690)
Row 24375693 (NC_000001.11:99880770:G:T 366/264690)

- Apr 25, 2021 (155)
50 UK 10K study - Twins NC_000001.10 - 100346327 Oct 11, 2018 (152)
51 ALFA NC_000001.11 - 99880771 Apr 25, 2021 (155)
52 ClinVar RCV000675328.15 Oct 12, 2022 (156)
53 ClinVar RCV000973786.6 Oct 12, 2022 (156)
54 ClinVar RCV001085237.10 Oct 12, 2022 (156)
55 ClinVar RCV001460818.4 Oct 12, 2022 (156)
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
1737777, ss1685653080, ss2731661657, ss3894560383 NC_000001.10:100346326:G:A NC_000001.11:99880770:G:A (self)
RCV000973786.6, 3700853, 11930357784, ss2165048082, ss4460769356, ss5516174918 NC_000001.11:99880770:G:A NC_000001.11:99880770:G:A (self)
ss491598791 NC_000001.9:100118914:G:C NC_000001.11:99880770:G:C (self)
ss1685653081, ss2731661657 NC_000001.10:100346326:G:C NC_000001.11:99880770:G:C (self)
RCV001460818.4, 11930357784, ss4460769357 NC_000001.11:99880770:G:C NC_000001.11:99880770:G:C (self)
ss1584863576 NC_000001.9:100118914:G:T NC_000001.11:99880770:G:T (self)
1588864, 1132498, 92803, 689503, 1588864, ss341977146, ss454265905, ss489753908, ss975485484, ss1600821482, ss1643815515, ss1685653079, ss2731661657, ss2746379821, ss2758660901, ss2987309088, ss3655394250, ss3823634171, ss3825570176, ss3986128674, ss5626136002, ss5937997275 NC_000001.10:100346326:G:T NC_000001.11:99880770:G:T (self)
RCV000675328.15, RCV001085237.10, 3700853, 11930357784, ss2165048082, ss4460769358, ss5237632460, ss5243328782, ss5444280640, ss5516174918, ss5909481621 NC_000001.11:99880770:G:T NC_000001.11:99880770: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 rs141944878

Help

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

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top▲ Help

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

Software version is: 2.0.1.post761+d5e8e07