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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.

rs2127352

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:60742129 (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
C>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.332812 (88092/264690, TOPMED)
A=0.329521 (46098/139894, GnomAD)
A=0.32139 (6071/18890, ALFA) (+ 14 more)
A=0.30179 (5058/16760, 8.3KJPN)
A=0.3413 (1709/5008, 1000G)
A=0.3321 (1488/4480, Estonian)
A=0.3041 (1172/3854, ALSPAC)
A=0.3153 (1169/3708, TWINSUK)
A=0.3751 (1099/2930, KOREAN)
A=0.3755 (688/1832, Korea1K)
A=0.328 (327/998, GoNL)
A=0.328 (197/600, NorthernSweden)
C=0.416 (129/310, SGDP_PRJ)
A=0.356 (77/216, Qatari)
C=0.472 (102/216, Vietnamese)
A=0.42 (17/40, GENOME_DK)
C=0.27 (6/22, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ANK3-DT : 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.p13 chr 10 NC_000010.11:g.60742129C>A
GRCh37.p13 chr 10 NC_000010.10:g.62501887C>A
Gene: ANK3-DT, uncharacterized ANK3-DT (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ANK3-DT transcript variant X2 XR_001747687.1:n. N/A Intron Variant
ANK3-DT transcript variant X1 XR_001747686.1:n. N/A Genic Downstream 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

ALFA Allele Frequency (New)
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 18890 C=0.67861 A=0.32139
European Sub 14286 C=0.69096 A=0.30904
African Sub 2946 C=0.6297 A=0.3703
African Others Sub 114 C=0.658 A=0.342
African American Sub 2832 C=0.6285 A=0.3715
Asian Sub 112 C=0.482 A=0.518
East Asian Sub 86 C=0.51 A=0.49
Other Asian Sub 26 C=0.38 A=0.62
Latin American 1 Sub 146 C=0.712 A=0.288
Latin American 2 Sub 610 C=0.662 A=0.338
South Asian Sub 98 C=0.80 A=0.20
Other Sub 692 C=0.655 A=0.345


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=0.667188 A=0.332812
gnomAD - Genomes Global Study-wide 139894 C=0.670479 A=0.329521
gnomAD - Genomes European Sub 75808 C=0.68983 A=0.31017
gnomAD - Genomes African Sub 41872 C=0.62564 A=0.37436
gnomAD - Genomes American Sub 13628 C=0.70340 A=0.29660
gnomAD - Genomes Ashkenazi Jewish Sub 3318 C=0.7815 A=0.2185
gnomAD - Genomes East Asian Sub 3124 C=0.5346 A=0.4654
gnomAD - Genomes Other Sub 2144 C=0.6786 A=0.3214
8.3KJPN JAPANESE Study-wide 16760 C=0.69821 A=0.30179
1000Genomes Global Study-wide 5008 C=0.6587 A=0.3413
1000Genomes African Sub 1322 C=0.6044 A=0.3956
1000Genomes East Asian Sub 1008 C=0.5327 A=0.4673
1000Genomes Europe Sub 1006 C=0.7087 A=0.2913
1000Genomes South Asian Sub 978 C=0.796 A=0.204
1000Genomes American Sub 694 C=0.680 A=0.320
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.6679 A=0.3321
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.6959 A=0.3041
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.6847 A=0.3153
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.6249 A=0.3751
Korean Genome Project KOREAN Study-wide 1832 C=0.6245 A=0.3755
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.672 A=0.328
Northern Sweden ACPOP Study-wide 600 C=0.672 A=0.328
SGDP_PRJ Global Study-wide 310 C=0.416 A=0.584
Qatari Global Study-wide 216 C=0.644 A=0.356
A Vietnamese Genetic Variation Database Global Study-wide 216 C=0.472 A=0.528
The Danish reference pan genome Danish Study-wide 40 C=0.57 A=0.42
Siberian Global Study-wide 22 C=0.27 A=0.73
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= A
GRCh38.p13 chr 10 NC_000010.11:g.60742129= NC_000010.11:g.60742129C>A
GRCh37.p13 chr 10 NC_000010.10:g.62501887= NC_000010.10:g.62501887C>A
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#.

57 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss3050862 Jun 15, 2001 (96)
2 SC_SNP ss12953979 Dec 05, 2003 (119)
3 SC_SNP ss16048434 Feb 27, 2004 (120)
4 ABI ss39777038 Mar 14, 2006 (126)
5 HGSV ss80342093 Dec 15, 2007 (130)
6 1000GENOMES ss109490818 Jan 24, 2009 (130)
7 1000GENOMES ss113347365 Jan 25, 2009 (130)
8 ILLUMINA-UK ss119190064 Feb 15, 2009 (130)
9 GMI ss155112099 Dec 01, 2009 (131)
10 COMPLETE_GENOMICS ss168447278 Jul 04, 2010 (132)
11 COMPLETE_GENOMICS ss170175291 Jul 04, 2010 (132)
12 COMPLETE_GENOMICS ss174574929 Jul 04, 2010 (132)
13 BCM-HGSC-SUB ss207346232 Jul 04, 2010 (132)
14 1000GENOMES ss224758235 Jul 14, 2010 (132)
15 1000GENOMES ss235199261 Jul 15, 2010 (132)
16 1000GENOMES ss241900507 Jul 15, 2010 (132)
17 GMI ss280640386 May 04, 2012 (137)
18 PJP ss290850634 May 09, 2011 (134)
19 TISHKOFF ss561992901 Apr 25, 2013 (138)
20 SSMP ss656817641 Apr 25, 2013 (138)
21 EVA-GONL ss987549646 Aug 21, 2014 (142)
22 JMKIDD_LAB ss1077032145 Aug 21, 2014 (142)
23 1000GENOMES ss1337667006 Aug 21, 2014 (142)
24 DDI ss1426339521 Apr 01, 2015 (144)
25 EVA_GENOME_DK ss1575154123 Apr 01, 2015 (144)
26 EVA_DECODE ss1597216099 Apr 01, 2015 (144)
27 EVA_UK10K_ALSPAC ss1624686453 Apr 01, 2015 (144)
28 EVA_UK10K_TWINSUK ss1667680486 Apr 01, 2015 (144)
29 HAMMER_LAB ss1806415905 Sep 08, 2015 (146)
30 WEILL_CORNELL_DGM ss1930913560 Feb 12, 2016 (147)
31 GENOMED ss1967142920 Jul 19, 2016 (147)
32 JJLAB ss2026180029 Sep 14, 2016 (149)
33 USC_VALOUEV ss2154453178 Dec 20, 2016 (150)
34 HUMAN_LONGEVITY ss2175216001 Dec 20, 2016 (150)
35 TOPMED ss2338248350 Dec 20, 2016 (150)
36 GRF ss2698697294 Nov 08, 2017 (151)
37 GNOMAD ss2889428242 Nov 08, 2017 (151)
38 SWEGEN ss3006572591 Nov 08, 2017 (151)
39 BIOINF_KMB_FNS_UNIBA ss3026881162 Nov 08, 2017 (151)
40 TOPMED ss3121331534 Nov 08, 2017 (151)
41 CSHL ss3349150237 Nov 08, 2017 (151)
42 EGCUT_WGS ss3673985065 Jul 13, 2019 (153)
43 EVA_DECODE ss3689992329 Jul 13, 2019 (153)
44 ACPOP ss3737372920 Jul 13, 2019 (153)
45 EVA ss3748171612 Jul 13, 2019 (153)
46 PACBIO ss3786688970 Jul 13, 2019 (153)
47 PACBIO ss3791867475 Jul 13, 2019 (153)
48 PACBIO ss3796749493 Jul 13, 2019 (153)
49 KHV_HUMAN_GENOMES ss3813547283 Jul 13, 2019 (153)
50 EVA ss3832155500 Apr 26, 2020 (154)
51 EVA ss3839617228 Apr 26, 2020 (154)
52 EVA ss3845089466 Apr 26, 2020 (154)
53 SGDP_PRJ ss3874329305 Apr 26, 2020 (154)
54 KRGDB ss3922399274 Apr 26, 2020 (154)
55 KOGIC ss3967992023 Apr 26, 2020 (154)
56 TOPMED ss4854398580 Apr 27, 2021 (155)
57 TOMMO_GENOMICS ss5197890574 Apr 27, 2021 (155)
58 1000Genomes NC_000010.10 - 62501887 Oct 12, 2018 (152)
59 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 62501887 Oct 12, 2018 (152)
60 Genetic variation in the Estonian population NC_000010.10 - 62501887 Oct 12, 2018 (152)
61 The Danish reference pan genome NC_000010.10 - 62501887 Apr 26, 2020 (154)
62 gnomAD - Genomes NC_000010.11 - 60742129 Apr 27, 2021 (155)
63 Genome of the Netherlands Release 5 NC_000010.10 - 62501887 Apr 26, 2020 (154)
64 KOREAN population from KRGDB NC_000010.10 - 62501887 Apr 26, 2020 (154)
65 Korean Genome Project NC_000010.11 - 60742129 Apr 26, 2020 (154)
66 Northern Sweden NC_000010.10 - 62501887 Jul 13, 2019 (153)
67 Qatari NC_000010.10 - 62501887 Apr 26, 2020 (154)
68 SGDP_PRJ NC_000010.10 - 62501887 Apr 26, 2020 (154)
69 Siberian NC_000010.10 - 62501887 Apr 26, 2020 (154)
70 8.3KJPN NC_000010.10 - 62501887 Apr 27, 2021 (155)
71 TopMed NC_000010.11 - 60742129 Apr 27, 2021 (155)
72 UK 10K study - Twins NC_000010.10 - 62501887 Oct 12, 2018 (152)
73 A Vietnamese Genetic Variation Database NC_000010.10 - 62501887 Jul 13, 2019 (153)
74 ALFA NC_000010.11 - 60742129 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)
rs60459721 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss80342093 NC_000010.8:62171892:C:A NC_000010.11:60742128:C:A (self)
ss109490818, ss113347365, ss119190064, ss168447278, ss170175291, ss174574929, ss207346232, ss280640386, ss290850634, ss1597216099 NC_000010.9:62171892:C:A NC_000010.11:60742128:C:A (self)
50063334, 27785700, 19723313, 2181563, 12392061, 29576668, 10657785, 12955490, 26346285, 6969532, 55859881, 27785700, 6171102, ss224758235, ss235199261, ss241900507, ss561992901, ss656817641, ss987549646, ss1077032145, ss1337667006, ss1426339521, ss1575154123, ss1624686453, ss1667680486, ss1806415905, ss1930913560, ss1967142920, ss2026180029, ss2154453178, ss2338248350, ss2698697294, ss2889428242, ss3006572591, ss3349150237, ss3673985065, ss3737372920, ss3748171612, ss3786688970, ss3791867475, ss3796749493, ss3832155500, ss3839617228, ss3874329305, ss3922399274, ss5197890574 NC_000010.10:62501886:C:A NC_000010.11:60742128:C:A (self)
353866100, 24370024, 43947381, 69944235, 4114600768, ss2175216001, ss3026881162, ss3121331534, ss3689992329, ss3813547283, ss3845089466, ss3967992023, ss4854398580 NC_000010.11:60742128:C:A NC_000010.11:60742128:C:A (self)
ss12953979 NT_008583.15:11053034:C:A NC_000010.11:60742128:C:A (self)
ss16048434 NT_008583.16:11053041:C:A NC_000010.11:60742128:C:A (self)
ss3050862, ss39777038, ss155112099 NT_030059.13:13306350:C:A NC_000010.11:60742128:C:A (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 rs2127352

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