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dbSNP Short Genetic Variations

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.

rs37141

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr7:82020158 (GRCh38.p12) 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
A=0.45165 (56713/125568, TOPMED)
A=0.4801 (14841/30910, GnomAD)
A=0.424 (2125/5008, 1000G) (+ 3 more)
G=0.355 (1590/4480, Estonian)
G=0.419 (1615/3854, ALSPAC)
G=0.411 (1525/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CACNA2D1 : Intron Variant
LOC101927356 : Intron 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.p12 chr 7 NC_000007.14:g.82020158A>G
GRCh37.p13 chr 7 NC_000007.13:g.81649474A>G
CACNA2D1 RefSeqGene (LRG_437) NG_009358.2:g.428558T>C
Gene: CACNA2D1, calcium voltage-gated channel auxiliary subunit alpha2delta 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CACNA2D1 transcript variant 1 NM_000722.3:c. N/A Intron Variant
CACNA2D1 transcript variant 2 NM_001302890.1:c. N/A Genic Downstream Transcript Variant
CACNA2D1 transcript variant X4 XM_005250570.3:c. N/A Intron Variant
CACNA2D1 transcript variant X6 XM_005250572.3:c. N/A Intron Variant
CACNA2D1 transcript variant X8 XM_005250573.3:c. N/A Intron Variant
CACNA2D1 transcript variant X9 XM_005250574.3:c. N/A Intron Variant
CACNA2D1 transcript variant X1 XM_006716118.3:c. N/A Intron Variant
CACNA2D1 transcript variant X7 XM_006716119.3:c. N/A Intron Variant
CACNA2D1 transcript variant X10 XM_006716120.3:c. N/A Intron Variant
CACNA2D1 transcript variant X2 XM_011516570.3:c. N/A Intron Variant
CACNA2D1 transcript variant X3 XM_011516571.3:c. N/A Intron Variant
CACNA2D1 transcript variant X5 XM_011516572.3:c. N/A Intron Variant
CACNA2D1 transcript variant X11 XM_017012588.1:c. N/A Intron Variant
CACNA2D1 transcript variant X14 XM_006716121.3:c. N/A Genic Upstream Transcript Variant
CACNA2D1 transcript variant X12 XR_001744873.2:n. N/A Intron Variant
CACNA2D1 transcript variant X13 XR_001744874.2:n. N/A Intron Variant
Gene: LOC101927356, uncharacterized LOC101927356 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC101927356 transcript variant 1 NR_110076.1:n. N/A Intron Variant
LOC101927356 transcript variant 2 NR_110077.1: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
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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").

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Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 125568 A=0.45165 G=0.54835
gnomAD - Genomes Global Study-wide 30910 A=0.4801 G=0.5199
gnomAD - Genomes European Sub 18472 A=0.6084 G=0.3916
gnomAD - Genomes African Sub 8718 A=0.166 G=0.834
gnomAD - Genomes East Asian Sub 1606 A=0.612 G=0.388
gnomAD - Genomes Other Sub 976 A=0.55 G=0.45
gnomAD - Genomes American Sub 836 A=0.55 G=0.45
gnomAD - Genomes Ashkenazi Jewish Sub 302 A=0.57 G=0.43
1000Genomes Global Study-wide 5008 A=0.424 G=0.576
1000Genomes African Sub 1322 A=0.085 G=0.915
1000Genomes East Asian Sub 1008 A=0.568 G=0.432
1000Genomes Europe Sub 1006 A=0.570 G=0.430
1000Genomes South Asian Sub 978 A=0.54 G=0.46
1000Genomes American Sub 694 A=0.49 G=0.51
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.645 G=0.355
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.581 G=0.419
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.589 G=0.411
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 Note
GRCh38.p12 chr 7 NC_000007.14:g.82020158A= NC_000007.14:g.82020158A>G
GRCh37.p13 chr 7 NC_000007.13:g.81649474A= NC_000007.13:g.81649474A>G
CACNA2D1 RefSeqGene (LRG_437) NG_009358.2:g.428558T= NG_009358.2:g.428558T>C
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#.

71 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss41328 May 08, 2000 (76)
2 WUGSC_SSAHASNP ss14563035 Dec 05, 2003 (120)
3 SSAHASNP ss22641429 Apr 05, 2004 (121)
4 PERLEGEN ss23957878 Sep 20, 2004 (123)
5 ABI ss44832791 Mar 15, 2006 (126)
6 ILLUMINA ss66648588 Dec 02, 2006 (127)
7 ILLUMINA ss67297293 Dec 02, 2006 (127)
8 ILLUMINA ss67701781 Dec 02, 2006 (127)
9 PERLEGEN ss69020323 May 18, 2007 (127)
10 ILLUMINA ss70775920 May 25, 2008 (130)
11 ILLUMINA ss71351947 May 18, 2007 (127)
12 ILLUMINA ss75530858 Dec 07, 2007 (129)
13 ILLUMINA ss79163067 Dec 15, 2007 (130)
14 KRIBB_YJKIM ss83358319 Dec 15, 2007 (130)
15 HGSV ss86144549 Dec 15, 2007 (130)
16 BCMHGSC_JDW ss93715723 Mar 24, 2008 (129)
17 HUMANGENOME_JCVI ss98310641 Feb 05, 2009 (130)
18 1000GENOMES ss114001813 Jan 25, 2009 (130)
19 ILLUMINA-UK ss116160273 Feb 14, 2009 (130)
20 ILLUMINA ss122198206 Dec 01, 2009 (131)
21 ENSEMBL ss142613902 Dec 01, 2009 (131)
22 ENSEMBL ss143620605 Dec 01, 2009 (131)
23 ILLUMINA ss154262988 Dec 01, 2009 (131)
24 GMI ss155106393 Dec 01, 2009 (131)
25 ILLUMINA ss159439858 Dec 01, 2009 (131)
26 COMPLETE_GENOMICS ss162480005 Jul 04, 2010 (132)
27 COMPLETE_GENOMICS ss164687459 Jul 04, 2010 (132)
28 ILLUMINA ss171608982 Jul 04, 2010 (132)
29 ILLUMINA ss173611550 Jul 04, 2010 (132)
30 BUSHMAN ss203559499 Jul 04, 2010 (132)
31 1000GENOMES ss223166065 Jul 14, 2010 (132)
32 1000GENOMES ss234048908 Jul 15, 2010 (132)
33 1000GENOMES ss240989588 Jul 15, 2010 (132)
34 BL ss254470481 May 09, 2011 (134)
35 GMI ss279410626 May 04, 2012 (137)
36 GMI ss285665873 Apr 25, 2013 (138)
37 PJP ss293903644 May 09, 2011 (134)
38 TISHKOFF ss560110978 Apr 25, 2013 (138)
39 SSMP ss654507501 Apr 25, 2013 (138)
40 ILLUMINA ss825493585 Apr 01, 2015 (144)
41 ILLUMINA ss832951437 Aug 21, 2014 (142)
42 ILLUMINA ss833542266 Aug 21, 2014 (142)
43 EVA-GONL ss984466465 Aug 21, 2014 (142)
44 JMKIDD_LAB ss1074740197 Aug 21, 2014 (142)
45 1000GENOMES ss1325862802 Aug 21, 2014 (142)
46 DDI ss1431188399 Apr 01, 2015 (144)
47 EVA_GENOME_DK ss1582277301 Apr 01, 2015 (144)
48 EVA_DECODE ss1594040599 Apr 01, 2015 (144)
49 EVA_UK10K_ALSPAC ss1618552573 Apr 01, 2015 (144)
50 EVA_UK10K_TWINSUK ss1661546606 Apr 01, 2015 (144)
51 EVA_SVP ss1712966172 Apr 01, 2015 (144)
52 HAMMER_LAB ss1805082096 Sep 08, 2015 (146)
53 WEILL_CORNELL_DGM ss1927728172 Feb 12, 2016 (147)
54 GENOMED ss1970742831 Jul 19, 2016 (147)
55 JJLAB ss2024546567 Sep 14, 2016 (149)
56 USC_VALOUEV ss2152766718 Dec 20, 2016 (150)
57 HUMAN_LONGEVITY ss2295210975 Dec 20, 2016 (150)
58 TOPMED ss2464562156 Dec 20, 2016 (150)
59 SYSTEMSBIOZJU ss2626764671 Nov 08, 2017 (151)
60 ILLUMINA ss2635173765 Nov 08, 2017 (151)
61 GRF ss2708469312 Nov 08, 2017 (151)
62 GNOMAD ss2855376737 Nov 08, 2017 (151)
63 SWEGEN ss3001515316 Nov 08, 2017 (151)
64 BIOINF_KMB_FNS_UNIBA ss3026066230 Nov 08, 2017 (151)
65 CSHL ss3347699552 Nov 08, 2017 (151)
66 TOPMED ss3535814652 Nov 08, 2017 (151)
67 ILLUMINA ss3638706271 Oct 12, 2018 (152)
68 ILLUMINA ss3639355339 Oct 12, 2018 (152)
69 ILLUMINA ss3639705890 Oct 12, 2018 (152)
70 ILLUMINA ss3643641499 Oct 12, 2018 (152)
71 URBANLAB ss3648685159 Oct 12, 2018 (152)
72 1000Genomes NC_000007.13 - 81649474 Oct 12, 2018 (152)
73 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 81649474 Oct 12, 2018 (152)
74 Genetic variation in the Estonian population NC_000007.13 - 81649474 Oct 12, 2018 (152)
75 gnomAD - Genomes NC_000007.13 - 81649474 Oct 12, 2018 (152)
76 TopMed NC_000007.14 - 82020158 Oct 12, 2018 (152)
77 UK 10K study - Twins NC_000007.13 - 81649474 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).

Associated ID History Updated (Build)
rs10357670 Feb 27, 2004 (120)
rs60023432 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss86144549, ss3639355339, ss3639705890 NC_000007.11:81294124:A:G NC_000007.14:82020157:A:G (self)
ss93715723, ss114001813, ss116160273, ss162480005, ss164687459, ss203559499, ss254470481, ss279410626, ss285665873, ss293903644, ss825493585, ss1594040599, ss1712966172, ss2635173765, ss3643641499 NC_000007.12:81487409:A:G NC_000007.14:82020157:A:G (self)
37858726, 21068698, 15005186, 196004495, 21068698, ss223166065, ss234048908, ss240989588, ss560110978, ss654507501, ss832951437, ss833542266, ss984466465, ss1074740197, ss1325862802, ss1431188399, ss1582277301, ss1618552573, ss1661546606, ss1805082096, ss1927728172, ss1970742831, ss2024546567, ss2152766718, ss2464562156, ss2626764671, ss2708469312, ss2855376737, ss3001515316, ss3347699552, ss3638706271 NC_000007.13:81649473:A:G NC_000007.14:82020157:A:G (self)
368779866, ss2295210975, ss3026066230, ss3535814652, ss3648685159 NC_000007.14:82020157:A:G NC_000007.14:82020157:A:G (self)
ss14563035, ss22641429 NT_007933.13:6883711:A:G NC_000007.14:82020157:A:G (self)
ss41328, ss23957878, ss44832791, ss66648588, ss67297293, ss67701781, ss69020323, ss70775920, ss71351947, ss75530858, ss79163067, ss83358319, ss98310641, ss122198206, ss142613902, ss143620605, ss154262988, ss155106393, ss159439858, ss171608982, ss173611550 NT_007933.15:19682316:A:G NC_000007.14:82020157: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 rs37141

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.post104+4a6ee9c