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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.

rs3774426

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:53524975 (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
C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.288296 (76309/264690, TOPMED)
T=0.28650 (8861/30928, ALFA)
T=0.17924 (5065/28258, 14KJPN) (+ 16 more)
T=0.18073 (3029/16760, 8.3KJPN)
T=0.2378 (1523/6404, 1000G_30x)
T=0.2364 (1184/5008, 1000G)
T=0.3951 (1770/4480, Estonian)
T=0.3970 (1530/3854, ALSPAC)
T=0.4016 (1489/3708, TWINSUK)
T=0.2031 (595/2930, KOREAN)
T=0.3398 (384/1130, Daghestan)
T=0.376 (375/998, GoNL)
T=0.315 (189/600, NorthernSweden)
T=0.236 (77/326, HapMap)
C=0.391 (101/258, SGDP_PRJ)
T=0.356 (77/216, Qatari)
T=0.139 (30/216, Vietnamese)
T=0.42 (17/40, GENOME_DK)
C=0.43 (12/28, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CACNA1D : Intron Variant
Publications
1 citation
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 30928 C=0.71350 G=0.00000, T=0.28650
European Sub 19120 C=0.66721 G=0.00000, T=0.33279
African Sub 3736 C=0.9162 G=0.0000, T=0.0838
African Others Sub 148 C=0.959 G=0.000, T=0.041
African American Sub 3588 C=0.9144 G=0.0000, T=0.0856
Asian Sub 122 C=0.926 G=0.000, T=0.074
East Asian Sub 98 C=0.93 G=0.00, T=0.07
Other Asian Sub 24 C=0.92 G=0.00, T=0.08
Latin American 1 Sub 476 C=0.754 G=0.000, T=0.246
Latin American 2 Sub 4392 C=0.7771 G=0.0000, T=0.2229
South Asian Sub 104 C=0.885 G=0.000, T=0.115
Other Sub 2978 C=0.6414 G=0.0000, T=0.3586


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 C=0.711704 T=0.288296
Allele Frequency Aggregator Total Global 30928 C=0.71350 G=0.00000, T=0.28650
Allele Frequency Aggregator European Sub 19120 C=0.66721 G=0.00000, T=0.33279
Allele Frequency Aggregator Latin American 2 Sub 4392 C=0.7771 G=0.0000, T=0.2229
Allele Frequency Aggregator African Sub 3736 C=0.9162 G=0.0000, T=0.0838
Allele Frequency Aggregator Other Sub 2978 C=0.6414 G=0.0000, T=0.3586
Allele Frequency Aggregator Latin American 1 Sub 476 C=0.754 G=0.000, T=0.246
Allele Frequency Aggregator Asian Sub 122 C=0.926 G=0.000, T=0.074
Allele Frequency Aggregator South Asian Sub 104 C=0.885 G=0.000, T=0.115
14KJPN JAPANESE Study-wide 28258 C=0.82076 T=0.17924
8.3KJPN JAPANESE Study-wide 16760 C=0.81927 T=0.18073
1000Genomes_30x Global Study-wide 6404 C=0.7622 T=0.2378
1000Genomes_30x African Sub 1786 C=0.8578 T=0.1422
1000Genomes_30x Europe Sub 1266 C=0.6003 T=0.3997
1000Genomes_30x South Asian Sub 1202 C=0.7363 T=0.2637
1000Genomes_30x East Asian Sub 1170 C=0.8291 T=0.1709
1000Genomes_30x American Sub 980 C=0.749 T=0.251
1000Genomes Global Study-wide 5008 C=0.7636 T=0.2364
1000Genomes African Sub 1322 C=0.8608 T=0.1392
1000Genomes East Asian Sub 1008 C=0.8264 T=0.1736
1000Genomes Europe Sub 1006 C=0.6093 T=0.3907
1000Genomes South Asian Sub 978 C=0.731 T=0.269
1000Genomes American Sub 694 C=0.756 T=0.244
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.6049 T=0.3951
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.6030 T=0.3970
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.5984 T=0.4016
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.7969 T=0.2031
Genome-wide autozygosity in Daghestan Global Study-wide 1130 C=0.6602 T=0.3398
Genome-wide autozygosity in Daghestan Daghestan Sub 628 C=0.643 T=0.357
Genome-wide autozygosity in Daghestan Near_East Sub 142 C=0.711 T=0.289
Genome-wide autozygosity in Daghestan Central Asia Sub 120 C=0.675 T=0.325
Genome-wide autozygosity in Daghestan Europe Sub 106 C=0.575 T=0.425
Genome-wide autozygosity in Daghestan South Asian Sub 98 C=0.70 T=0.30
Genome-wide autozygosity in Daghestan Caucasus Sub 36 C=0.83 T=0.17
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.624 T=0.376
Northern Sweden ACPOP Study-wide 600 C=0.685 T=0.315
HapMap Global Study-wide 326 C=0.764 T=0.236
HapMap African Sub 120 C=0.867 T=0.133
HapMap American Sub 120 C=0.592 T=0.408
HapMap Asian Sub 86 C=0.86 T=0.14
SGDP_PRJ Global Study-wide 258 C=0.391 T=0.609
Qatari Global Study-wide 216 C=0.644 T=0.356
A Vietnamese Genetic Variation Database Global Study-wide 216 C=0.861 T=0.139
The Danish reference pan genome Danish Study-wide 40 C=0.57 T=0.42
Siberian Global Study-wide 28 C=0.43 T=0.57
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 3 NC_000003.12:g.53524975C>G
GRCh38.p14 chr 3 NC_000003.12:g.53524975C>T
GRCh37.p13 chr 3 NC_000003.11:g.53559002C>G
GRCh37.p13 chr 3 NC_000003.11:g.53559002C>T
CACNA1D RefSeqGene NG_032999.1:g.34927C>G
CACNA1D RefSeqGene NG_032999.1:g.34927C>T
Gene: CACNA1D, calcium voltage-gated channel subunit alpha1 D (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CACNA1D transcript variant 1 NM_000720.4:c.483+23255C>G N/A Intron Variant
CACNA1D transcript variant 3 NM_001128839.3:c.483+2325…

NM_001128839.3:c.483+23255C>G

N/A Intron Variant
CACNA1D transcript variant 2 NM_001128840.3:c.483+2325…

NM_001128840.3:c.483+23255C>G

N/A Intron Variant
CACNA1D transcript variant X14 XM_005265448.4:c.483+2325…

XM_005265448.4:c.483+23255C>G

N/A Intron Variant
CACNA1D transcript variant X2 XM_011534094.3:c.594+2325…

XM_011534094.3:c.594+23255C>G

N/A Intron Variant
CACNA1D transcript variant X13 XM_011534096.3:c.594+2325…

XM_011534096.3:c.594+23255C>G

N/A Intron Variant
CACNA1D transcript variant X15 XM_011534097.3:c.57+23471…

XM_011534097.3:c.57+23471C>G

N/A Intron Variant
CACNA1D transcript variant X19 XM_011534100.3:c.594+2325…

XM_011534100.3:c.594+23255C>G

N/A Intron Variant
CACNA1D transcript variant X1 XM_017007137.2:c.594+2325…

XM_017007137.2:c.594+23255C>G

N/A Intron Variant
CACNA1D transcript variant X3 XM_017007138.2:c.594+2325…

XM_017007138.2:c.594+23255C>G

N/A Intron Variant
CACNA1D transcript variant X4 XM_017007139.2:c.594+2325…

XM_017007139.2:c.594+23255C>G

N/A Intron Variant
CACNA1D transcript variant X5 XM_017007140.2:c.594+2325…

XM_017007140.2:c.594+23255C>G

N/A Intron Variant
CACNA1D transcript variant X6 XM_017007141.2:c.594+2325…

XM_017007141.2:c.594+23255C>G

N/A Intron Variant
CACNA1D transcript variant X10 XM_017007142.2:c.594+2325…

XM_017007142.2:c.594+23255C>G

N/A Intron Variant
CACNA1D transcript variant X9 XM_017007143.2:c.594+2325…

XM_017007143.2:c.594+23255C>G

N/A Intron Variant
CACNA1D transcript variant X8 XM_017007144.2:c.594+2325…

XM_017007144.2:c.594+23255C>G

N/A Intron Variant
CACNA1D transcript variant X11 XM_017007145.2:c.594+2325…

XM_017007145.2:c.594+23255C>G

N/A Intron Variant
CACNA1D transcript variant X7 XM_047448871.1:c.594+2325…

XM_047448871.1:c.594+23255C>G

N/A Intron Variant
CACNA1D transcript variant X12 XM_047448872.1:c.594+2325…

XM_047448872.1:c.594+23255C>G

N/A Intron Variant
CACNA1D transcript variant X17 XM_047448873.1:c.594+2325…

XM_047448873.1:c.594+23255C>G

N/A Intron Variant
CACNA1D transcript variant X18 XM_047448874.1:c.483+2325…

XM_047448874.1:c.483+23255C>G

N/A Intron Variant
CACNA1D transcript variant X16 XM_011534099.3:c. N/A Genic Upstream 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
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 C= G T
GRCh38.p14 chr 3 NC_000003.12:g.53524975= NC_000003.12:g.53524975C>G NC_000003.12:g.53524975C>T
GRCh37.p13 chr 3 NC_000003.11:g.53559002= NC_000003.11:g.53559002C>G NC_000003.11:g.53559002C>T
CACNA1D RefSeqGene NG_032999.1:g.34927= NG_032999.1:g.34927C>G NG_032999.1:g.34927C>T
CACNA1D transcript variant 1 NM_000720.3:c.483+23255= NM_000720.3:c.483+23255C>G NM_000720.3:c.483+23255C>T
CACNA1D transcript variant 1 NM_000720.4:c.483+23255= NM_000720.4:c.483+23255C>G NM_000720.4:c.483+23255C>T
CACNA1D transcript variant 3 NM_001128839.2:c.483+23255= NM_001128839.2:c.483+23255C>G NM_001128839.2:c.483+23255C>T
CACNA1D transcript variant 3 NM_001128839.3:c.483+23255= NM_001128839.3:c.483+23255C>G NM_001128839.3:c.483+23255C>T
CACNA1D transcript variant 2 NM_001128840.2:c.483+23255= NM_001128840.2:c.483+23255C>G NM_001128840.2:c.483+23255C>T
CACNA1D transcript variant 2 NM_001128840.3:c.483+23255= NM_001128840.3:c.483+23255C>G NM_001128840.3:c.483+23255C>T
CACNA1D transcript variant X1 XM_005265448.1:c.483+23255= XM_005265448.1:c.483+23255C>G XM_005265448.1:c.483+23255C>T
CACNA1D transcript variant X14 XM_005265448.4:c.483+23255= XM_005265448.4:c.483+23255C>G XM_005265448.4:c.483+23255C>T
CACNA1D transcript variant X2 XM_011534094.3:c.594+23255= XM_011534094.3:c.594+23255C>G XM_011534094.3:c.594+23255C>T
CACNA1D transcript variant X13 XM_011534096.3:c.594+23255= XM_011534096.3:c.594+23255C>G XM_011534096.3:c.594+23255C>T
CACNA1D transcript variant X15 XM_011534097.3:c.57+23471= XM_011534097.3:c.57+23471C>G XM_011534097.3:c.57+23471C>T
CACNA1D transcript variant X19 XM_011534100.3:c.594+23255= XM_011534100.3:c.594+23255C>G XM_011534100.3:c.594+23255C>T
CACNA1D transcript variant X1 XM_017007137.2:c.594+23255= XM_017007137.2:c.594+23255C>G XM_017007137.2:c.594+23255C>T
CACNA1D transcript variant X3 XM_017007138.2:c.594+23255= XM_017007138.2:c.594+23255C>G XM_017007138.2:c.594+23255C>T
CACNA1D transcript variant X4 XM_017007139.2:c.594+23255= XM_017007139.2:c.594+23255C>G XM_017007139.2:c.594+23255C>T
CACNA1D transcript variant X5 XM_017007140.2:c.594+23255= XM_017007140.2:c.594+23255C>G XM_017007140.2:c.594+23255C>T
CACNA1D transcript variant X6 XM_017007141.2:c.594+23255= XM_017007141.2:c.594+23255C>G XM_017007141.2:c.594+23255C>T
CACNA1D transcript variant X10 XM_017007142.2:c.594+23255= XM_017007142.2:c.594+23255C>G XM_017007142.2:c.594+23255C>T
CACNA1D transcript variant X9 XM_017007143.2:c.594+23255= XM_017007143.2:c.594+23255C>G XM_017007143.2:c.594+23255C>T
CACNA1D transcript variant X8 XM_017007144.2:c.594+23255= XM_017007144.2:c.594+23255C>G XM_017007144.2:c.594+23255C>T
CACNA1D transcript variant X11 XM_017007145.2:c.594+23255= XM_017007145.2:c.594+23255C>G XM_017007145.2:c.594+23255C>T
CACNA1D transcript variant X7 XM_047448871.1:c.594+23255= XM_047448871.1:c.594+23255C>G XM_047448871.1:c.594+23255C>T
CACNA1D transcript variant X12 XM_047448872.1:c.594+23255= XM_047448872.1:c.594+23255C>G XM_047448872.1:c.594+23255C>T
CACNA1D transcript variant X17 XM_047448873.1:c.594+23255= XM_047448873.1:c.594+23255C>G XM_047448873.1:c.594+23255C>T
CACNA1D transcript variant X18 XM_047448874.1:c.483+23255= XM_047448874.1:c.483+23255C>G XM_047448874.1:c.483+23255C>T
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#.

68 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss4960489 Aug 28, 2002 (107)
2 SSAHASNP ss21984190 Apr 05, 2004 (121)
3 ABI ss44467742 Mar 13, 2006 (126)
4 HGSV ss77778296 Dec 06, 2007 (129)
5 HGSV ss80604224 Dec 14, 2007 (130)
6 HUMANGENOME_JCVI ss96010467 Feb 04, 2009 (130)
7 ILLUMINA-UK ss117082929 Feb 14, 2009 (130)
8 ENSEMBL ss133215986 Dec 01, 2009 (131)
9 ILLUMINA ss160640046 Dec 01, 2009 (131)
10 COMPLETE_GENOMICS ss162131487 Jul 04, 2010 (132)
11 COMPLETE_GENOMICS ss166547185 Jul 04, 2010 (132)
12 1000GENOMES ss220135229 Jul 14, 2010 (132)
13 1000GENOMES ss231819462 Jul 14, 2010 (132)
14 1000GENOMES ss239233635 Jul 15, 2010 (132)
15 GMI ss277124456 May 04, 2012 (137)
16 PJP ss292795710 May 09, 2011 (134)
17 ILLUMINA ss481774915 Sep 08, 2015 (146)
18 ILLUMINA ss535860006 Sep 08, 2015 (146)
19 TISHKOFF ss556612814 Apr 25, 2013 (138)
20 SSMP ss650290948 Apr 25, 2013 (138)
21 EVA-GONL ss978588877 Aug 21, 2014 (142)
22 JMKIDD_LAB ss1070405624 Aug 21, 2014 (142)
23 1000GENOMES ss1303999184 Aug 21, 2014 (142)
24 HAMMER_LAB ss1397337521 Sep 08, 2015 (146)
25 DDI ss1429418907 Apr 01, 2015 (144)
26 EVA_GENOME_DK ss1579961400 Apr 01, 2015 (144)
27 EVA_DECODE ss1588060218 Apr 01, 2015 (144)
28 EVA_UK10K_ALSPAC ss1607066566 Apr 01, 2015 (144)
29 EVA_UK10K_TWINSUK ss1650060599 Apr 01, 2015 (144)
30 WEILL_CORNELL_DGM ss1921828556 Feb 12, 2016 (147)
31 JJLAB ss2021473245 Sep 14, 2016 (149)
32 USC_VALOUEV ss2149547024 Dec 20, 2016 (150)
33 HUMAN_LONGEVITY ss2251572840 Dec 20, 2016 (150)
34 SYSTEMSBIOZJU ss2625235115 Nov 08, 2017 (151)
35 GRF ss2704920566 Nov 08, 2017 (151)
36 GNOMAD ss2792966299 Nov 08, 2017 (151)
37 SWEGEN ss2992313633 Nov 08, 2017 (151)
38 BIOINF_KMB_FNS_UNIBA ss3024498182 Nov 08, 2017 (151)
39 CSHL ss3345016738 Nov 08, 2017 (151)
40 ILLUMINA ss3628660665 Oct 12, 2018 (152)
41 ILLUMINA ss3636590615 Oct 12, 2018 (152)
42 URBANLAB ss3647403058 Oct 12, 2018 (152)
43 EGCUT_WGS ss3660235313 Jul 13, 2019 (153)
44 EVA_DECODE ss3709229629 Jul 13, 2019 (153)
45 ACPOP ss3729884312 Jul 13, 2019 (153)
46 EVA ss3760031033 Jul 13, 2019 (153)
47 PACBIO ss3784313684 Jul 13, 2019 (153)
48 PACBIO ss3789829317 Jul 13, 2019 (153)
49 PACBIO ss3794703277 Jul 13, 2019 (153)
50 KHV_HUMAN_GENOMES ss3803166877 Jul 13, 2019 (153)
51 EVA ss3827807740 Apr 25, 2020 (154)
52 EVA ss3837325896 Apr 25, 2020 (154)
53 EVA ss3842751333 Apr 25, 2020 (154)
54 SGDP_PRJ ss3855842418 Apr 25, 2020 (154)
55 KRGDB ss3901701076 Apr 25, 2020 (154)
56 TOPMED ss4564697933 Apr 27, 2021 (155)
57 TOMMO_GENOMICS ss5159163960 Apr 27, 2021 (155)
58 1000G_HIGH_COVERAGE ss5254083747 Oct 12, 2022 (156)
59 EVA ss5339807257 Oct 12, 2022 (156)
60 HUGCELL_USP ss5453473897 Oct 12, 2022 (156)
61 1000G_HIGH_COVERAGE ss5532450755 Oct 12, 2022 (156)
62 SANFORD_IMAGENETICS ss5632126993 Oct 12, 2022 (156)
63 TOMMO_GENOMICS ss5690831377 Oct 12, 2022 (156)
64 YY_MCH ss5803736599 Oct 12, 2022 (156)
65 EVA ss5825753371 Oct 12, 2022 (156)
66 EVA ss5853610245 Oct 12, 2022 (156)
67 EVA ss5868830843 Oct 12, 2022 (156)
68 EVA ss5960420438 Oct 12, 2022 (156)
69 1000Genomes NC_000003.11 - 53559002 Oct 12, 2018 (152)
70 1000Genomes_30x NC_000003.12 - 53524975 Oct 12, 2022 (156)
71 The Avon Longitudinal Study of Parents and Children NC_000003.11 - 53559002 Oct 12, 2018 (152)
72 Genome-wide autozygosity in Daghestan NC_000003.10 - 53534042 Apr 25, 2020 (154)
73 Genetic variation in the Estonian population NC_000003.11 - 53559002 Oct 12, 2018 (152)
74 The Danish reference pan genome NC_000003.11 - 53559002 Apr 25, 2020 (154)
75 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 107827462 (NC_000003.12:53524974:C:G 14/140070)
Row 107827463 (NC_000003.12:53524974:C:T 42822/140038)

- Apr 27, 2021 (155)
76 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 107827462 (NC_000003.12:53524974:C:G 14/140070)
Row 107827463 (NC_000003.12:53524974:C:T 42822/140038)

- Apr 27, 2021 (155)
77 Genome of the Netherlands Release 5 NC_000003.11 - 53559002 Apr 25, 2020 (154)
78 HapMap NC_000003.12 - 53524975 Apr 25, 2020 (154)
79 KOREAN population from KRGDB NC_000003.11 - 53559002 Apr 25, 2020 (154)
80 Northern Sweden NC_000003.11 - 53559002 Jul 13, 2019 (153)
81 Qatari NC_000003.11 - 53559002 Apr 25, 2020 (154)
82 SGDP_PRJ NC_000003.11 - 53559002 Apr 25, 2020 (154)
83 Siberian NC_000003.11 - 53559002 Apr 25, 2020 (154)
84 8.3KJPN NC_000003.11 - 53559002 Apr 27, 2021 (155)
85 14KJPN NC_000003.12 - 53524975 Oct 12, 2022 (156)
86 TopMed NC_000003.12 - 53524975 Apr 27, 2021 (155)
87 UK 10K study - Twins NC_000003.11 - 53559002 Oct 12, 2018 (152)
88 A Vietnamese Genetic Variation Database NC_000003.11 - 53559002 Jul 13, 2019 (153)
89 ALFA NC_000003.12 - 53524975 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).

Associated ID History Updated (Build)
rs57215342 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2792966299 NC_000003.11:53559001:C:G NC_000003.12:53524974:C:G (self)
5252711844, ss2251572840 NC_000003.12:53524974:C:G NC_000003.12:53524974:C:G (self)
ss77778296, ss80604224 NC_000003.9:53534041:C:T NC_000003.12:53524974:C:T (self)
313523, ss117082929, ss162131487, ss166547185, ss277124456, ss292795710, ss1397337521, ss1588060218 NC_000003.10:53534041:C:T NC_000003.12:53524974:C:T (self)
15187050, 8446459, 5973561, 6126339, 3703439, 8878470, 3169177, 3870486, 7859398, 2063378, 17133267, 8446459, 1834090, ss220135229, ss231819462, ss239233635, ss481774915, ss535860006, ss556612814, ss650290948, ss978588877, ss1070405624, ss1303999184, ss1429418907, ss1579961400, ss1607066566, ss1650060599, ss1921828556, ss2021473245, ss2149547024, ss2625235115, ss2704920566, ss2792966299, ss2992313633, ss3345016738, ss3628660665, ss3636590615, ss3660235313, ss3729884312, ss3760031033, ss3784313684, ss3789829317, ss3794703277, ss3827807740, ss3837325896, ss3855842418, ss3901701076, ss5159163960, ss5339807257, ss5632126993, ss5825753371, ss5960420438 NC_000003.11:53559001:C:T NC_000003.12:53524974:C:T (self)
19976690, 2358736, 24668481, 402075488, 5252711844, ss2251572840, ss3024498182, ss3647403058, ss3709229629, ss3803166877, ss3842751333, ss4564697933, ss5254083747, ss5453473897, ss5532450755, ss5690831377, ss5803736599, ss5853610245, ss5868830843 NC_000003.12:53524974:C:T NC_000003.12:53524974:C:T (self)
ss21984190 NT_022517.16:53481349:C:T NC_000003.12:53524974:C:T (self)
ss4960489, ss44467742, ss96010467, ss133215986, ss160640046 NT_022517.18:53499001:C:T NC_000003.12:53524974:C:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs3774426
PMID Title Author Year Journal
19225208 Genetic polymorphisms of L-type calcium channel alpha1C and alpha1D subunit genes are associated with sensitivity to the antihypertensive effects of L-type dihydropyridine calcium-channel blockers. Kamide K et al. 2009 Circulation journal
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