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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.

rs3729864

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:84179100 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.030753 (8140/264690, TOPMED)
G=0.009073 (1344/148134, GnomAD_exome)
G=0.029513 (4130/139940, GnomAD) (+ 18 more)
G=0.00018 (5/28258, 14KJPN)
G=0.01539 (360/23392, ALFA)
G=0.02414 (443/18354, ExAC)
G=0.00018 (3/16760, 8.3KJPN)
G=0.0333 (213/6404, 1000G_30x)
G=0.0296 (148/5008, 1000G)
G=0.0195 (89/4554, GO-ESP)
G=0.0000 (0/3854, ALSPAC)
G=0.0008 (3/3708, TWINSUK)
G=0.0003 (1/2920, KOREAN)
G=0.001 (1/998, GoNL)
G=0.008 (5/614, Vietnamese)
G=0.023 (5/216, Qatari)
G=0.010 (2/196, HapMap)
A=0.50 (16/32, SGDP_PRJ)
G=0.50 (16/32, SGDP_PRJ)
A=0.5 (1/2, Siberian)
G=0.5 (1/2, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PRKACB : Intron 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 23392 A=0.98461 G=0.01539
European Sub 15876 A=0.99893 G=0.00107
African Sub 3540 A=0.9138 G=0.0862
African Others Sub 122 A=0.943 G=0.057
African American Sub 3418 A=0.9128 G=0.0872
Asian Sub 168 A=0.994 G=0.006
East Asian Sub 112 A=1.000 G=0.000
Other Asian Sub 56 A=0.98 G=0.02
Latin American 1 Sub 146 A=0.979 G=0.021
Latin American 2 Sub 610 A=1.000 G=0.000
South Asian Sub 98 A=0.97 G=0.03
Other Sub 2954 A=0.9895 G=0.0105


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 A=0.969247 G=0.030753
gnomAD - Exomes Global Study-wide 148134 A=0.990927 G=0.009073
gnomAD - Exomes European Sub 76886 A=0.99969 G=0.00031
gnomAD - Exomes Asian Sub 29556 A=0.98376 G=0.01624
gnomAD - Exomes American Sub 22426 A=0.99469 G=0.00531
gnomAD - Exomes African Sub 7774 A=0.9096 G=0.0904
gnomAD - Exomes Ashkenazi Jewish Sub 7528 A=0.9996 G=0.0004
gnomAD - Exomes Other Sub 3964 A=0.9962 G=0.0038
gnomAD - Genomes Global Study-wide 139940 A=0.970487 G=0.029513
gnomAD - Genomes European Sub 75756 A=0.99952 G=0.00048
gnomAD - Genomes African Sub 41998 A=0.90683 G=0.09317
gnomAD - Genomes American Sub 13612 A=0.99074 G=0.00926
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3104 A=0.9926 G=0.0074
gnomAD - Genomes Other Sub 2148 A=0.9851 G=0.0149
14KJPN JAPANESE Study-wide 28258 A=0.99982 G=0.00018
Allele Frequency Aggregator Total Global 23392 A=0.98461 G=0.01539
Allele Frequency Aggregator European Sub 15876 A=0.99893 G=0.00107
Allele Frequency Aggregator African Sub 3540 A=0.9138 G=0.0862
Allele Frequency Aggregator Other Sub 2954 A=0.9895 G=0.0105
Allele Frequency Aggregator Latin American 2 Sub 610 A=1.000 G=0.000
Allele Frequency Aggregator Asian Sub 168 A=0.994 G=0.006
Allele Frequency Aggregator Latin American 1 Sub 146 A=0.979 G=0.021
Allele Frequency Aggregator South Asian Sub 98 A=0.97 G=0.03
ExAC Global Study-wide 18354 A=0.97586 G=0.02414
ExAC Asian Sub 8364 A=0.9766 G=0.0234
ExAC Europe Sub 7654 A=0.9996 G=0.0004
ExAC African Sub 1498 A=0.8471 G=0.1529
ExAC American Sub 662 A=0.983 G=0.017
ExAC Other Sub 176 A=0.977 G=0.023
8.3KJPN JAPANESE Study-wide 16760 A=0.99982 G=0.00018
1000Genomes_30x Global Study-wide 6404 A=0.9667 G=0.0333
1000Genomes_30x African Sub 1786 A=0.9003 G=0.0997
1000Genomes_30x Europe Sub 1266 A=1.0000 G=0.0000
1000Genomes_30x South Asian Sub 1202 A=0.9759 G=0.0241
1000Genomes_30x East Asian Sub 1170 A=0.9974 G=0.0026
1000Genomes_30x American Sub 980 A=0.997 G=0.003
1000Genomes Global Study-wide 5008 A=0.9704 G=0.0296
1000Genomes African Sub 1322 A=0.9085 G=0.0915
1000Genomes East Asian Sub 1008 A=0.9970 G=0.0030
1000Genomes Europe Sub 1006 A=1.0000 G=0.0000
1000Genomes South Asian Sub 978 A=0.978 G=0.022
1000Genomes American Sub 694 A=0.997 G=0.003
GO Exome Sequencing Project Global Study-wide 4554 A=0.9805 G=0.0195
GO Exome Sequencing Project European American Sub 3172 A=0.9994 G=0.0006
GO Exome Sequencing Project African American Sub 1382 A=0.9370 G=0.0630
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=1.0000 G=0.0000
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.9992 G=0.0008
KOREAN population from KRGDB KOREAN Study-wide 2920 A=0.9997 G=0.0003
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.999 G=0.001
A Vietnamese Genetic Variation Database Global Study-wide 614 A=0.992 G=0.008
Qatari Global Study-wide 216 A=0.977 G=0.023
HapMap Global Study-wide 196 A=0.990 G=0.010
HapMap American Sub 106 A=0.981 G=0.019
HapMap Asian Sub 90 A=1.00 G=0.00
SGDP_PRJ Global Study-wide 32 A=0.50 G=0.50
Siberian Global Study-wide 2 A=0.5 G=0.5
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.84179100A>G
GRCh37.p13 chr 1 NC_000001.10:g.84644783A>G
PRKACB RefSeqGene NG_029728.1:g.106039A>G
Gene: PRKACB, protein kinase cAMP-activated catalytic subunit beta (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PRKACB transcript variant 4 NM_001242857.3:c.68-77A>G N/A Intron Variant
PRKACB transcript variant 5 NM_001242858.3:c.11-77A>G N/A Intron Variant
PRKACB transcript variant 6 NM_001242859.3:c.59-77A>G N/A Intron Variant
PRKACB transcript variant 7 NM_001242860.3:c.65-77A>G N/A Intron Variant
PRKACB transcript variant 8 NM_001242861.3:c.56-77A>G N/A Intron Variant
PRKACB transcript variant 10 NM_001300915.2:c.65-77A>G N/A Intron Variant
PRKACB transcript variant 11 NM_001300916.2:c.188-77A>G N/A Intron Variant
PRKACB transcript variant 12 NM_001300917.2:c.11-77A>G N/A Intron Variant
PRKACB transcript variant 13 NM_001375560.1:c.56-77A>G N/A Intron Variant
PRKACB transcript variant 14 NM_001375561.1:c.41-77A>G N/A Intron Variant
PRKACB transcript variant 15 NM_001375562.1:c.44-77A>G N/A Intron Variant
PRKACB transcript variant 16 NM_001375563.1:c.35-77A>G N/A Intron Variant
PRKACB transcript variant 17 NM_001375564.1:c.32-77A>G N/A Intron Variant
PRKACB transcript variant 18 NM_001375565.1:c.8-77A>G N/A Intron Variant
PRKACB transcript variant 20 NM_001375569.1:c.68-77A>G N/A Intron Variant
PRKACB transcript variant 21 NM_001375571.1:c.65-77A>G N/A Intron Variant
PRKACB transcript variant 22 NM_001375572.1:c.59-77A>G N/A Intron Variant
PRKACB transcript variant 23 NM_001375573.1:c.56-77A>G N/A Intron Variant
PRKACB transcript variant 26 NM_001375574.1:c.41-77A>G N/A Intron Variant
PRKACB transcript variant 24 NM_001375575.1:c.56-77A>G N/A Intron Variant
PRKACB transcript variant 25 NM_001375576.1:c.47-77A>G N/A Intron Variant
PRKACB transcript variant 27 NM_001375577.1:c.41-77A>G N/A Intron Variant
PRKACB transcript variant 28 NM_001375578.1:c.11-77A>G N/A Intron Variant
PRKACB transcript variant 29 NM_001375579.1:c.8-77A>G N/A Intron Variant
PRKACB transcript variant 30 NM_001375580.1:c.8-77A>G N/A Intron Variant
PRKACB transcript variant 19 NM_001375581.1:c.68-77A>G N/A Intron Variant
PRKACB transcript variant 2 NM_002731.4:c.47-77A>G N/A Intron Variant
PRKACB transcript variant 1 NM_182948.4:c.188-77A>G N/A Intron Variant
PRKACB transcript variant 3 NM_207578.3:c.47-77A>G N/A Intron Variant
PRKACB transcript variant 9 NM_001242862.3:c. N/A Genic Upstream Transcript Variant
PRKACB transcript variant X1 XM_005271020.3:c.188-77A>G N/A Intron Variant
PRKACB transcript variant X4 XM_017001711.2:c.59-77A>G N/A Intron Variant
PRKACB transcript variant X5 XM_017001716.2:c.35-77A>G N/A Intron Variant
PRKACB transcript variant X6 XM_017001717.2:c.32-77A>G N/A Intron Variant
PRKACB transcript variant X3 XM_047424681.1:c.-128-77A…

XM_047424681.1:c.-128-77A>G

 		N/A Intron Variant
PRKACB transcript variant X2 XR_007061945.1:n. N/A Intron 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
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 A= G
GRCh38.p14 chr 1 NC_000001.11:g.84179100= NC_000001.11:g.84179100A>G
GRCh37.p13 chr 1 NC_000001.10:g.84644783= NC_000001.10:g.84644783A>G
PRKACB RefSeqGene NG_029728.1:g.106039= NG_029728.1:g.106039A>G
PRKACB transcript variant 4 NM_001242857.1:c.68-77= NM_001242857.1:c.68-77A>G
PRKACB transcript variant 4 NM_001242857.3:c.68-77= NM_001242857.3:c.68-77A>G
PRKACB transcript variant 5 NM_001242858.1:c.11-77= NM_001242858.1:c.11-77A>G
PRKACB transcript variant 5 NM_001242858.3:c.11-77= NM_001242858.3:c.11-77A>G
PRKACB transcript variant 6 NM_001242859.1:c.59-77= NM_001242859.1:c.59-77A>G
PRKACB transcript variant 6 NM_001242859.3:c.59-77= NM_001242859.3:c.59-77A>G
PRKACB transcript variant 7 NM_001242860.1:c.65-77= NM_001242860.1:c.65-77A>G
PRKACB transcript variant 7 NM_001242860.3:c.65-77= NM_001242860.3:c.65-77A>G
PRKACB transcript variant 8 NM_001242861.1:c.56-77= NM_001242861.1:c.56-77A>G
PRKACB transcript variant 8 NM_001242861.3:c.56-77= NM_001242861.3:c.56-77A>G
PRKACB transcript variant 10 NM_001300915.2:c.65-77= NM_001300915.2:c.65-77A>G
PRKACB transcript variant 11 NM_001300916.2:c.188-77= NM_001300916.2:c.188-77A>G
PRKACB transcript variant 12 NM_001300917.2:c.11-77= NM_001300917.2:c.11-77A>G
PRKACB transcript variant 13 NM_001375560.1:c.56-77= NM_001375560.1:c.56-77A>G
PRKACB transcript variant 14 NM_001375561.1:c.41-77= NM_001375561.1:c.41-77A>G
PRKACB transcript variant 15 NM_001375562.1:c.44-77= NM_001375562.1:c.44-77A>G
PRKACB transcript variant 16 NM_001375563.1:c.35-77= NM_001375563.1:c.35-77A>G
PRKACB transcript variant 17 NM_001375564.1:c.32-77= NM_001375564.1:c.32-77A>G
PRKACB transcript variant 18 NM_001375565.1:c.8-77= NM_001375565.1:c.8-77A>G
PRKACB transcript variant 20 NM_001375569.1:c.68-77= NM_001375569.1:c.68-77A>G
PRKACB transcript variant 21 NM_001375571.1:c.65-77= NM_001375571.1:c.65-77A>G
PRKACB transcript variant 22 NM_001375572.1:c.59-77= NM_001375572.1:c.59-77A>G
PRKACB transcript variant 23 NM_001375573.1:c.56-77= NM_001375573.1:c.56-77A>G
PRKACB transcript variant 26 NM_001375574.1:c.41-77= NM_001375574.1:c.41-77A>G
PRKACB transcript variant 24 NM_001375575.1:c.56-77= NM_001375575.1:c.56-77A>G
PRKACB transcript variant 25 NM_001375576.1:c.47-77= NM_001375576.1:c.47-77A>G
PRKACB transcript variant 27 NM_001375577.1:c.41-77= NM_001375577.1:c.41-77A>G
PRKACB transcript variant 28 NM_001375578.1:c.11-77= NM_001375578.1:c.11-77A>G
PRKACB transcript variant 29 NM_001375579.1:c.8-77= NM_001375579.1:c.8-77A>G
PRKACB transcript variant 30 NM_001375580.1:c.8-77= NM_001375580.1:c.8-77A>G
PRKACB transcript variant 19 NM_001375581.1:c.68-77= NM_001375581.1:c.68-77A>G
PRKACB transcript variant 2 NM_002731.2:c.47-77= NM_002731.2:c.47-77A>G
PRKACB transcript variant 2 NM_002731.4:c.47-77= NM_002731.4:c.47-77A>G
PRKACB transcript variant 1 NM_182948.2:c.188-77= NM_182948.2:c.188-77A>G
PRKACB transcript variant 1 NM_182948.4:c.188-77= NM_182948.4:c.188-77A>G
PRKACB transcript variant 3 NM_207578.1:c.47-77= NM_207578.1:c.47-77A>G
PRKACB transcript variant 3 NM_207578.3:c.47-77= NM_207578.3:c.47-77A>G
PRKACB transcript variant X1 XM_005271015.1:c.44-77= XM_005271015.1:c.44-77A>G
PRKACB transcript variant X3 XM_005271016.1:c.41-77= XM_005271016.1:c.41-77A>G
PRKACB transcript variant X3 XM_005271017.1:c.35-77= XM_005271017.1:c.35-77A>G
PRKACB transcript variant X4 XM_005271018.1:c.32-77= XM_005271018.1:c.32-77A>G
PRKACB transcript variant X6 XM_005271019.1:c.8-77= XM_005271019.1:c.8-77A>G
PRKACB transcript variant X7 XM_005271020.1:c.188-77= XM_005271020.1:c.188-77A>G
PRKACB transcript variant X1 XM_005271020.3:c.188-77= XM_005271020.3:c.188-77A>G
PRKACB transcript variant X7 XM_005271021.1:c.188-77= XM_005271021.1:c.188-77A>G
PRKACB transcript variant X8 XM_005271022.1:c.65-77= XM_005271022.1:c.65-77A>G
PRKACB transcript variant X9 XM_005271023.1:c.11-77= XM_005271023.1:c.11-77A>G
PRKACB transcript variant X4 XM_017001711.2:c.59-77= XM_017001711.2:c.59-77A>G
PRKACB transcript variant X5 XM_017001716.2:c.35-77= XM_017001716.2:c.35-77A>G
PRKACB transcript variant X6 XM_017001717.2:c.32-77= XM_017001717.2:c.32-77A>G
PRKACB transcript variant X3 XM_047424681.1:c.-128-77= XM_047424681.1:c.-128-77A>G
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, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 WIPGA ss4915796 Aug 28, 2002 (107)
2 PGA-UW-FHCRC ss60197776 Oct 13, 2006 (127)
3 BUSHMAN ss198707914 Jul 04, 2010 (132)
4 1000GENOMES ss218495171 Jul 14, 2010 (132)
5 CLINSEQ_SNP ss491597280 May 04, 2012 (137)
6 TISHKOFF ss554368980 Apr 25, 2013 (138)
7 SSMP ss648181750 Apr 25, 2013 (138)
8 NHLBI-ESP ss712314171 Apr 25, 2013 (138)
9 EVA-GONL ss975373302 Aug 21, 2014 (142)
10 JMKIDD_LAB ss1067422740 Aug 21, 2014 (142)
11 JMKIDD_LAB ss1068048398 Aug 21, 2014 (142)
12 1000GENOMES ss1291697262 Aug 21, 2014 (142)
13 DDI ss1425879023 Apr 01, 2015 (144)
14 EVA_UK10K_ALSPAC ss1600595319 Apr 01, 2015 (144)
15 EVA_UK10K_TWINSUK ss1643589352 Apr 01, 2015 (144)
16 EVA_EXAC ss1685613996 Apr 01, 2015 (144)
17 HAMMER_LAB ss1794661393 Sep 08, 2015 (146)
18 WEILL_CORNELL_DGM ss1918576474 Feb 12, 2016 (147)
19 USC_VALOUEV ss2147825246 Dec 20, 2016 (150)
20 HUMAN_LONGEVITY ss2164172383 Dec 20, 2016 (150)
21 GNOMAD ss2731600629 Nov 08, 2017 (151)
22 GNOMAD ss2746362039 Nov 08, 2017 (151)
23 GNOMAD ss2757446382 Nov 08, 2017 (151)
24 SWEGEN ss2987137694 Nov 08, 2017 (151)
25 OMUKHERJEE_ADBS ss3646232542 Oct 11, 2018 (152)
26 EVA ss3746448461 Jul 12, 2019 (153)
27 KHV_HUMAN_GENOMES ss3799455148 Jul 12, 2019 (153)
28 EVA ss3823625648 Apr 25, 2020 (154)
29 EVA ss3825568164 Apr 25, 2020 (154)
30 SGDP_PRJ ss3849266102 Apr 25, 2020 (154)
31 KRGDB ss3894318685 Apr 25, 2020 (154)
32 EVA ss3986125462 Apr 25, 2021 (155)
33 TOPMED ss4456953609 Apr 25, 2021 (155)
34 TOMMO_GENOMICS ss5144844527 Apr 25, 2021 (155)
35 1000G_HIGH_COVERAGE ss5242965785 Oct 12, 2022 (156)
36 EVA ss5320017157 Oct 12, 2022 (156)
37 HUGCELL_USP ss5443955823 Oct 12, 2022 (156)
38 EVA ss5505926517 Oct 12, 2022 (156)
39 1000G_HIGH_COVERAGE ss5515620944 Oct 12, 2022 (156)
40 SANFORD_IMAGENETICS ss5625931971 Oct 12, 2022 (156)
41 TOMMO_GENOMICS ss5669870329 Oct 12, 2022 (156)
42 YY_MCH ss5800771547 Oct 12, 2022 (156)
43 EVA ss5832228846 Oct 12, 2022 (156)
44 EVA ss5909061821 Oct 12, 2022 (156)
45 EVA ss5937779087 Oct 12, 2022 (156)
46 1000Genomes NC_000001.10 - 84644783 Oct 11, 2018 (152)
47 1000Genomes_30x NC_000001.11 - 84179100 Oct 12, 2022 (156)
48 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 84644783 Oct 11, 2018 (152)
49 ExAC NC_000001.10 - 84644783 Oct 11, 2018 (152)
50 gnomAD - Genomes NC_000001.11 - 84179100 Apr 25, 2021 (155)
51 gnomAD - Exomes NC_000001.10 - 84644783 Jul 12, 2019 (153)
52 GO Exome Sequencing Project NC_000001.10 - 84644783 Oct 11, 2018 (152)
53 Genome of the Netherlands Release 5 NC_000001.10 - 84644783 Apr 25, 2020 (154)
54 HapMap NC_000001.11 - 84179100 Apr 25, 2020 (154)
55 KOREAN population from KRGDB NC_000001.10 - 84644783 Apr 25, 2020 (154)
56 Qatari NC_000001.10 - 84644783 Apr 25, 2020 (154)
57 SGDP_PRJ NC_000001.10 - 84644783 Apr 25, 2020 (154)
58 Siberian NC_000001.10 - 84644783 Apr 25, 2020 (154)
59 8.3KJPN NC_000001.10 - 84644783 Apr 25, 2021 (155)
60 14KJPN NC_000001.11 - 84179100 Oct 12, 2022 (156)
61 TopMed NC_000001.11 - 84179100 Apr 25, 2021 (155)
62 UK 10K study - Twins NC_000001.10 - 84644783 Oct 11, 2018 (152)
63 A Vietnamese Genetic Variation Database NC_000001.10 - 84644783 Jul 12, 2019 (153)
64 ALFA NC_000001.11 - 84179100 Apr 25, 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
ss198707914, ss491597280 NC_000001.9:84417370:A:G NC_000001.11:84179099:A:G (self)
2445486, 1340105, 4816501, 620874, 84299, 579960, 1496079, 618404, 1283082, 341600, 2813834, 1340105, 287639, ss218495171, ss554368980, ss648181750, ss712314171, ss975373302, ss1067422740, ss1068048398, ss1291697262, ss1425879023, ss1600595319, ss1643589352, ss1685613996, ss1794661393, ss1918576474, ss2147825246, ss2731600629, ss2746362039, ss2757446382, ss2987137694, ss3646232542, ss3746448461, ss3823625648, ss3825568164, ss3849266102, ss3894318685, ss3986125462, ss5144844527, ss5320017157, ss5505926517, ss5625931971, ss5832228846, ss5937779087 NC_000001.10:84644782:A:G NC_000001.11:84179099:A:G (self)
3146879, 17261769, 114354, 3707433, 20559944, 2952245702, ss2164172383, ss3799455148, ss4456953609, ss5242965785, ss5443955823, ss5515620944, ss5669870329, ss5800771547, ss5909061821 NC_000001.11:84179099:A:G NC_000001.11:84179099:A:G (self)
ss4915796, ss60197776 NT_032977.9:54616700:A:G NC_000001.11:84179099:A:G (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 rs3729864

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
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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