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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.

rs2127348

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:60740945 (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
A>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.332786 (88085/264690, TOPMED)
C=0.327787 (45824/139798, GnomAD)
C=0.32112 (6066/18890, ALFA) (+ 13 more)
C=0.30179 (5058/16760, 8.3KJPN)
C=0.3415 (1710/5008, 1000G)
C=0.3310 (1483/4480, Estonian)
C=0.2950 (1137/3854, ALSPAC)
C=0.3061 (1135/3708, TWINSUK)
C=0.3744 (1097/2930, KOREAN)
C=0.3745 (686/1832, Korea1K)
C=0.328 (327/998, GoNL)
C=0.327 (196/600, NorthernSweden)
A=0.416 (129/310, SGDP_PRJ)
C=0.356 (77/216, Qatari)
C=0.42 (17/40, GENOME_DK)
A=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.60740945A>C
GRCh37.p13 chr 10 NC_000010.10:g.62500703A>C
Gene: ANK3-DT, uncharacterized ANK3-DT (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ANK3-DT transcript variant X1 XR_001747686.1:n. N/A Intron Variant
ANK3-DT transcript variant X2 XR_001747687.1: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

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 A=0.67888 C=0.32112
European Sub 14286 A=0.69124 C=0.30876
African Sub 2946 A=0.6300 C=0.3700
African Others Sub 114 A=0.658 C=0.342
African American Sub 2832 A=0.6289 C=0.3711
Asian Sub 112 A=0.482 C=0.518
East Asian Sub 86 A=0.51 C=0.49
Other Asian Sub 26 A=0.38 C=0.62
Latin American 1 Sub 146 A=0.712 C=0.288
Latin American 2 Sub 610 A=0.662 C=0.338
South Asian Sub 98 A=0.80 C=0.20
Other Sub 692 A=0.655 C=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 A=0.667214 C=0.332786
gnomAD - Genomes Global Study-wide 139798 A=0.672213 C=0.327787
gnomAD - Genomes European Sub 75740 A=0.69134 C=0.30866
gnomAD - Genomes African Sub 41864 A=0.62777 C=0.37223
gnomAD - Genomes American Sub 13626 A=0.70468 C=0.29532
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.7818 C=0.2182
gnomAD - Genomes East Asian Sub 3098 A=0.5403 C=0.4597
gnomAD - Genomes Other Sub 2148 A=0.6788 C=0.3212
8.3KJPN JAPANESE Study-wide 16760 A=0.69821 C=0.30179
1000Genomes Global Study-wide 5008 A=0.6585 C=0.3415
1000Genomes African Sub 1322 A=0.6044 C=0.3956
1000Genomes East Asian Sub 1008 A=0.5327 C=0.4673
1000Genomes Europe Sub 1006 A=0.7068 C=0.2932
1000Genomes South Asian Sub 978 A=0.797 C=0.203
1000Genomes American Sub 694 A=0.680 C=0.320
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.6690 C=0.3310
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.7050 C=0.2950
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.6939 C=0.3061
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.6256 C=0.3744
Korean Genome Project KOREAN Study-wide 1832 A=0.6255 C=0.3745
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.672 C=0.328
Northern Sweden ACPOP Study-wide 600 A=0.673 C=0.327
SGDP_PRJ Global Study-wide 310 A=0.416 C=0.584
Qatari Global Study-wide 216 A=0.644 C=0.356
The Danish reference pan genome Danish Study-wide 40 A=0.57 C=0.42
Siberian Global Study-wide 22 A=0.27 C=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 A= C
GRCh38.p13 chr 10 NC_000010.11:g.60740945= NC_000010.11:g.60740945A>C
GRCh37.p13 chr 10 NC_000010.10:g.62500703= NC_000010.10:g.62500703A>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#.

50 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss3050858 Jun 15, 2001 (96)
2 SC_SNP ss12953977 Dec 05, 2003 (119)
3 ABI ss39862461 Mar 15, 2006 (126)
4 HGSV ss78104430 Dec 06, 2007 (129)
5 HGSV ss82224227 Dec 15, 2007 (130)
6 1000GENOMES ss109490798 Jan 24, 2009 (130)
7 ILLUMINA-UK ss119190054 Feb 15, 2009 (130)
8 GMI ss155112059 Dec 01, 2009 (131)
9 BCM-HGSC-SUB ss207375800 Jul 04, 2010 (132)
10 1000GENOMES ss210986866 Jul 14, 2010 (132)
11 1000GENOMES ss224758228 Jul 14, 2010 (132)
12 1000GENOMES ss235199252 Jul 15, 2010 (132)
13 1000GENOMES ss241900500 Jul 15, 2010 (132)
14 GMI ss280640380 May 04, 2012 (137)
15 SSMP ss656817616 Apr 25, 2013 (138)
16 EVA-GONL ss987549632 Aug 21, 2014 (142)
17 JMKIDD_LAB ss1077032138 Aug 21, 2014 (142)
18 1000GENOMES ss1337666959 Aug 21, 2014 (142)
19 DDI ss1426339514 Apr 01, 2015 (144)
20 EVA_GENOME_DK ss1575154111 Apr 01, 2015 (144)
21 EVA_DECODE ss1597216085 Apr 01, 2015 (144)
22 EVA_UK10K_ALSPAC ss1624686428 Apr 01, 2015 (144)
23 EVA_UK10K_TWINSUK ss1667680461 Apr 01, 2015 (144)
24 WEILL_CORNELL_DGM ss1930913550 Feb 12, 2016 (147)
25 JJLAB ss2026180021 Sep 14, 2016 (149)
26 USC_VALOUEV ss2154453170 Dec 20, 2016 (150)
27 HUMAN_LONGEVITY ss2175215922 Dec 20, 2016 (150)
28 TOPMED ss2338248280 Dec 20, 2016 (150)
29 GRF ss2698697286 Nov 08, 2017 (151)
30 GNOMAD ss2889428142 Nov 08, 2017 (151)
31 SWEGEN ss3006572576 Nov 08, 2017 (151)
32 BIOINF_KMB_FNS_UNIBA ss3026881155 Nov 08, 2017 (151)
33 TOPMED ss3121331326 Nov 08, 2017 (151)
34 CSHL ss3349150230 Nov 08, 2017 (151)
35 EGCUT_WGS ss3673985047 Jul 13, 2019 (153)
36 EVA_DECODE ss3689992311 Jul 13, 2019 (153)
37 ACPOP ss3737372908 Jul 13, 2019 (153)
38 EVA ss3748171595 Jul 13, 2019 (153)
39 PACBIO ss3786688964 Jul 13, 2019 (153)
40 PACBIO ss3791867470 Jul 13, 2019 (153)
41 PACBIO ss3796749488 Jul 13, 2019 (153)
42 KHV_HUMAN_GENOMES ss3813547268 Jul 13, 2019 (153)
43 EVA ss3832155492 Apr 26, 2020 (154)
44 EVA ss3839617222 Apr 26, 2020 (154)
45 EVA ss3845089460 Apr 26, 2020 (154)
46 SGDP_PRJ ss3874329290 Apr 26, 2020 (154)
47 KRGDB ss3922399253 Apr 26, 2020 (154)
48 KOGIC ss3967992009 Apr 26, 2020 (154)
49 TOPMED ss4854398299 Apr 27, 2021 (155)
50 TOMMO_GENOMICS ss5197890533 Apr 27, 2021 (155)
51 1000Genomes NC_000010.10 - 62500703 Oct 12, 2018 (152)
52 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 62500703 Oct 12, 2018 (152)
53 Genetic variation in the Estonian population NC_000010.10 - 62500703 Oct 12, 2018 (152)
54 The Danish reference pan genome NC_000010.10 - 62500703 Apr 26, 2020 (154)
55 gnomAD - Genomes NC_000010.11 - 60740945 Apr 27, 2021 (155)
56 Genome of the Netherlands Release 5 NC_000010.10 - 62500703 Apr 26, 2020 (154)
57 KOREAN population from KRGDB NC_000010.10 - 62500703 Apr 26, 2020 (154)
58 Korean Genome Project NC_000010.11 - 60740945 Apr 26, 2020 (154)
59 Northern Sweden NC_000010.10 - 62500703 Jul 13, 2019 (153)
60 Qatari NC_000010.10 - 62500703 Apr 26, 2020 (154)
61 SGDP_PRJ NC_000010.10 - 62500703 Apr 26, 2020 (154)
62 Siberian NC_000010.10 - 62500703 Apr 26, 2020 (154)
63 8.3KJPN NC_000010.10 - 62500703 Apr 27, 2021 (155)
64 TopMed NC_000010.11 - 60740945 Apr 27, 2021 (155)
65 UK 10K study - Twins NC_000010.10 - 62500703 Oct 12, 2018 (152)
66 ALFA NC_000010.11 - 60740945 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)
rs58286666 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78104430, ss82224227 NC_000010.8:62170708:A:C NC_000010.11:60740944:A:C (self)
ss109490798, ss119190054, ss207375800, ss210986866, ss280640380, ss1597216085 NC_000010.9:62170708:A:C NC_000010.11:60740944:A:C (self)
50063287, 27785674, 19723295, 2181556, 12392047, 29576647, 10657773, 12955480, 26346270, 6969524, 55859840, 27785674, ss224758228, ss235199252, ss241900500, ss656817616, ss987549632, ss1077032138, ss1337666959, ss1426339514, ss1575154111, ss1624686428, ss1667680461, ss1930913550, ss2026180021, ss2154453170, ss2338248280, ss2698697286, ss2889428142, ss3006572576, ss3349150230, ss3673985047, ss3737372908, ss3748171595, ss3786688964, ss3791867470, ss3796749488, ss3832155492, ss3839617222, ss3874329290, ss3922399253, ss5197890533 NC_000010.10:62500702:A:C NC_000010.11:60740944:A:C (self)
353865874, 24370010, 43947186, 69943954, 7855417391, ss2175215922, ss3026881155, ss3121331326, ss3689992311, ss3813547268, ss3845089460, ss3967992009, ss4854398299 NC_000010.11:60740944:A:C NC_000010.11:60740944:A:C (self)
ss12953977 NT_008583.15:11051850:A:C NC_000010.11:60740944:A:C (self)
ss3050858, ss39862461, ss155112059 NT_030059.13:13305166:A:C NC_000010.11:60740944:A:C (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 rs2127348

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