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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.

rs10994322

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:60376521 (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>A / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.102248 (27064/264690, TOPMED)
T=0.094789 (13276/140058, GnomAD)
T=0.07334 (2399/32712, ALFA) (+ 20 more)
T=0.36330 (10266/28258, 14KJPN)
T=0.36826 (6172/16760, 8.3KJPN)
T=0.1476 (945/6404, 1000G_30x)
T=0.1494 (748/5008, 1000G)
T=0.1237 (554/4480, Estonian)
T=0.0506 (195/3854, ALSPAC)
T=0.0494 (183/3708, TWINSUK)
T=0.2945 (863/2930, KOREAN)
T=0.3024 (554/1832, Korea1K)
T=0.1492 (262/1756, HapMap)
T=0.0748 (85/1136, Daghestan)
T=0.073 (73/998, GoNL)
T=0.305 (191/626, Chileans)
T=0.093 (56/600, NorthernSweden)
C=0.364 (80/220, SGDP_PRJ)
T=0.051 (11/216, Qatari)
T=0.171 (37/216, Vietnamese)
T=0.00 (0/60, Ancient Sardinia)
T=0.05 (2/40, GENOME_DK)
C=0.27 (7/26, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ANK3 : 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 32804 C=0.92681 A=0.00000, T=0.07319
European Sub 22638 C=0.94487 A=0.00000, T=0.05513
African Sub 5740 C=0.9507 A=0.0000, T=0.0493
African Others Sub 194 C=0.943 A=0.000, T=0.057
African American Sub 5546 C=0.9510 A=0.0000, T=0.0490
Asian Sub 112 C=0.929 A=0.000, T=0.071
East Asian Sub 68 C=0.96 A=0.00, T=0.04
Other Asian Sub 44 C=0.89 A=0.00, T=0.11
Latin American 1 Sub 262 C=0.931 A=0.000, T=0.069
Latin American 2 Sub 2394 C=0.7293 A=0.0000, T=0.2707
South Asian Sub 100 C=0.99 A=0.00, T=0.01
Other Sub 1558 C=0.8748 A=0.0000, T=0.1252


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=0.897752 T=0.102248
gnomAD - Genomes Global Study-wide 140058 C=0.905211 T=0.094789
gnomAD - Genomes European Sub 75854 C=0.92538 T=0.07462
gnomAD - Genomes African Sub 41962 C=0.91035 T=0.08965
gnomAD - Genomes American Sub 13644 C=0.79742 T=0.20258
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=0.9627 T=0.0373
gnomAD - Genomes East Asian Sub 3122 C=0.7655 T=0.2345
gnomAD - Genomes Other Sub 2152 C=0.8913 T=0.1087
Allele Frequency Aggregator Total Global 32712 C=0.92666 A=0.00000, T=0.07334
Allele Frequency Aggregator European Sub 22564 C=0.94478 A=0.00000, T=0.05522
Allele Frequency Aggregator African Sub 5740 C=0.9507 A=0.0000, T=0.0493
Allele Frequency Aggregator Latin American 2 Sub 2394 C=0.7293 A=0.0000, T=0.2707
Allele Frequency Aggregator Other Sub 1540 C=0.8734 A=0.0000, T=0.1266
Allele Frequency Aggregator Latin American 1 Sub 262 C=0.931 A=0.000, T=0.069
Allele Frequency Aggregator Asian Sub 112 C=0.929 A=0.000, T=0.071
Allele Frequency Aggregator South Asian Sub 100 C=0.99 A=0.00, T=0.01
14KJPN JAPANESE Study-wide 28258 C=0.63670 T=0.36330
8.3KJPN JAPANESE Study-wide 16760 C=0.63174 T=0.36826
1000Genomes_30x Global Study-wide 6404 C=0.8524 T=0.1476
1000Genomes_30x African Sub 1786 C=0.9199 T=0.0801
1000Genomes_30x Europe Sub 1266 C=0.9305 T=0.0695
1000Genomes_30x South Asian Sub 1202 C=0.8527 T=0.1473
1000Genomes_30x East Asian Sub 1170 C=0.7692 T=0.2308
1000Genomes_30x American Sub 980 C=0.728 T=0.272
1000Genomes Global Study-wide 5008 C=0.8506 T=0.1494
1000Genomes African Sub 1322 C=0.9198 T=0.0802
1000Genomes East Asian Sub 1008 C=0.7599 T=0.2401
1000Genomes Europe Sub 1006 C=0.9314 T=0.0686
1000Genomes South Asian Sub 978 C=0.854 T=0.146
1000Genomes American Sub 694 C=0.729 T=0.271
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.8763 T=0.1237
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9494 T=0.0506
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9506 T=0.0494
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.7055 T=0.2945
Korean Genome Project KOREAN Study-wide 1832 C=0.6976 T=0.3024
HapMap Global Study-wide 1756 C=0.8508 T=0.1492
HapMap African Sub 684 C=0.920 T=0.080
HapMap American Sub 652 C=0.821 T=0.179
HapMap Asian Sub 250 C=0.688 T=0.312
HapMap Europe Sub 170 C=0.929 T=0.071
Genome-wide autozygosity in Daghestan Global Study-wide 1136 C=0.9252 T=0.0748
Genome-wide autozygosity in Daghestan Daghestan Sub 628 C=0.947 T=0.053
Genome-wide autozygosity in Daghestan Near_East Sub 144 C=0.938 T=0.062
Genome-wide autozygosity in Daghestan Central Asia Sub 122 C=0.779 T=0.221
Genome-wide autozygosity in Daghestan Europe Sub 108 C=0.954 T=0.046
Genome-wide autozygosity in Daghestan South Asian Sub 98 C=0.90 T=0.10
Genome-wide autozygosity in Daghestan Caucasus Sub 36 C=0.97 T=0.03
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.927 T=0.073
Chileans Chilean Study-wide 626 C=0.695 T=0.305
Northern Sweden ACPOP Study-wide 600 C=0.907 T=0.093
SGDP_PRJ Global Study-wide 220 C=0.364 T=0.636
Qatari Global Study-wide 216 C=0.949 T=0.051
A Vietnamese Genetic Variation Database Global Study-wide 216 C=0.829 T=0.171
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 60 C=1.00 T=0.00
The Danish reference pan genome Danish Study-wide 40 C=0.95 T=0.05
Siberian Global Study-wide 26 C=0.27 T=0.73
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 10 NC_000010.11:g.60376521C>A
GRCh38.p14 chr 10 NC_000010.11:g.60376521C>T
GRCh37.p13 chr 10 NC_000010.10:g.62136279C>A
GRCh37.p13 chr 10 NC_000010.10:g.62136279C>T
ANK3 RefSeqGene NG_029917.1:g.362006G>T
ANK3 RefSeqGene NG_029917.1:g.362006G>A
Gene: ANK3, ankyrin 3 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ANK3 transcript variant 3 NM_001204403.2:c.97-96882…

NM_001204403.2:c.97-96882G>T

N/A Intron Variant
ANK3 transcript variant 4 NM_001204404.2:c.64-96882…

NM_001204404.2:c.64-96882G>T

N/A Intron Variant
ANK3 transcript variant 5 NM_001320874.2:c.114+1290…

NM_001320874.2:c.114+12904G>T

N/A Intron Variant
ANK3 transcript variant 1 NM_020987.5:c.114+12904G>T N/A Intron Variant
ANK3 transcript variant 2 NM_001149.4: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= A T
GRCh38.p14 chr 10 NC_000010.11:g.60376521= NC_000010.11:g.60376521C>A NC_000010.11:g.60376521C>T
GRCh37.p13 chr 10 NC_000010.10:g.62136279= NC_000010.10:g.62136279C>A NC_000010.10:g.62136279C>T
ANK3 RefSeqGene NG_029917.1:g.362006= NG_029917.1:g.362006G>T NG_029917.1:g.362006G>A
ANK3 transcript variant 3 NM_001204403.1:c.97-96882= NM_001204403.1:c.97-96882G>T NM_001204403.1:c.97-96882G>A
ANK3 transcript variant 3 NM_001204403.2:c.97-96882= NM_001204403.2:c.97-96882G>T NM_001204403.2:c.97-96882G>A
ANK3 transcript variant 4 NM_001204404.1:c.64-96882= NM_001204404.1:c.64-96882G>T NM_001204404.1:c.64-96882G>A
ANK3 transcript variant 4 NM_001204404.2:c.64-96882= NM_001204404.2:c.64-96882G>T NM_001204404.2:c.64-96882G>A
ANK3 transcript variant 5 NM_001320874.2:c.114+12904= NM_001320874.2:c.114+12904G>T NM_001320874.2:c.114+12904G>A
ANK3 transcript variant 1 NM_020987.3:c.114+12904= NM_020987.3:c.114+12904G>T NM_020987.3:c.114+12904G>A
ANK3 transcript variant 1 NM_020987.5:c.114+12904= NM_020987.5:c.114+12904G>T NM_020987.5:c.114+12904G>A
ANK3 transcript variant X1 XM_005269710.1:c.114+12904= XM_005269710.1:c.114+12904G>T XM_005269710.1:c.114+12904G>A
ANK3 transcript variant X2 XM_005269711.1:c.114+12904= XM_005269711.1:c.114+12904G>T XM_005269711.1:c.114+12904G>A
ANK3 transcript variant X3 XM_005269712.1:c.114+12904= XM_005269712.1:c.114+12904G>T XM_005269712.1:c.114+12904G>A
ANK3 transcript variant X4 XM_005269713.1:c.64-96882= XM_005269713.1:c.64-96882G>T XM_005269713.1:c.64-96882G>A
ANK3 transcript variant X6 XM_005269715.1:c.114+12904= XM_005269715.1:c.114+12904G>T XM_005269715.1:c.114+12904G>A
ANK3 transcript variant X7 XM_005269716.1:c.114+12904= XM_005269716.1:c.114+12904G>T XM_005269716.1:c.114+12904G>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#.

66 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss16048325 Feb 27, 2004 (120)
2 SC_SNP ss18412449 Feb 27, 2004 (120)
3 PERLEGEN ss24056992 Sep 20, 2004 (123)
4 AFFY ss66474791 Dec 01, 2006 (127)
5 AFFY ss76285216 Dec 08, 2007 (129)
6 KRIBB_YJKIM ss82822576 Dec 15, 2007 (130)
7 BCMHGSC_JDW ss88234625 Mar 23, 2008 (129)
8 BGI ss102883551 Dec 01, 2009 (131)
9 ENSEMBL ss131901016 Dec 01, 2009 (131)
10 AFFY ss173124133 Jul 04, 2010 (132)
11 1000GENOMES ss224756779 Jul 14, 2010 (132)
12 1000GENOMES ss235198108 Jul 15, 2010 (132)
13 1000GENOMES ss241899653 Jul 15, 2010 (132)
14 GMI ss280639475 May 04, 2012 (137)
15 PJP ss290850033 May 09, 2011 (134)
16 TISHKOFF ss561991086 Apr 25, 2013 (138)
17 SSMP ss656813353 Apr 25, 2013 (138)
18 EVA-GONL ss987546827 Aug 21, 2014 (142)
19 JMKIDD_LAB ss1077029966 Aug 21, 2014 (142)
20 1000GENOMES ss1337656613 Aug 21, 2014 (142)
21 HAMMER_LAB ss1397583063 Sep 08, 2015 (146)
22 DDI ss1426338612 Apr 01, 2015 (144)
23 EVA_GENOME_DK ss1575151973 Apr 01, 2015 (144)
24 EVA_DECODE ss1597213176 Apr 01, 2015 (144)
25 EVA_UK10K_ALSPAC ss1624680867 Apr 01, 2015 (144)
26 EVA_UK10K_TWINSUK ss1667674900 Apr 01, 2015 (144)
27 EVA_SVP ss1713183684 Apr 01, 2015 (144)
28 HAMMER_LAB ss1806414800 Sep 08, 2015 (146)
29 WEILL_CORNELL_DGM ss1930910848 Feb 12, 2016 (147)
30 GENOMED ss1967142282 Jul 19, 2016 (147)
31 JJLAB ss2026178535 Sep 14, 2016 (149)
32 ILLUMINA ss2094862537 Dec 20, 2016 (150)
33 ILLUMINA ss2095012050 Dec 20, 2016 (150)
34 USC_VALOUEV ss2154451693 Dec 20, 2016 (150)
35 HUMAN_LONGEVITY ss2175194774 Dec 20, 2016 (150)
36 SYSTEMSBIOZJU ss2627559582 Nov 08, 2017 (151)
37 GRF ss2698695891 Nov 08, 2017 (151)
38 GNOMAD ss2889399774 Nov 08, 2017 (151)
39 AFFY ss2985558247 Nov 08, 2017 (151)
40 SWEGEN ss3006568438 Nov 08, 2017 (151)
41 BIOINF_KMB_FNS_UNIBA ss3026880291 Nov 08, 2017 (151)
42 ILLUMINA ss3651598649 Oct 12, 2018 (152)
43 ILLUMINA ss3653683854 Oct 12, 2018 (152)
44 EGCUT_WGS ss3673980846 Jul 13, 2019 (153)
45 EVA_DECODE ss3689987232 Jul 13, 2019 (153)
46 ACPOP ss3737370616 Jul 13, 2019 (153)
47 EVA ss3748168514 Jul 13, 2019 (153)
48 KHV_HUMAN_GENOMES ss3813544629 Jul 13, 2019 (153)
49 SGDP_PRJ ss3874323991 Apr 26, 2020 (154)
50 KRGDB ss3922393643 Apr 26, 2020 (154)
51 KOGIC ss3967987542 Apr 26, 2020 (154)
52 EVA ss3985477993 Apr 27, 2021 (155)
53 TOPMED ss4854309175 Apr 27, 2021 (155)
54 TOMMO_GENOMICS ss5197879618 Apr 27, 2021 (155)
55 1000G_HIGH_COVERAGE ss5284239219 Oct 16, 2022 (156)
56 EVA ss5393805981 Oct 16, 2022 (156)
57 HUGCELL_USP ss5479797068 Oct 16, 2022 (156)
58 EVA ss5510038728 Oct 16, 2022 (156)
59 1000G_HIGH_COVERAGE ss5578284768 Oct 16, 2022 (156)
60 SANFORD_IMAGENETICS ss5649397368 Oct 16, 2022 (156)
61 TOMMO_GENOMICS ss5743780779 Oct 16, 2022 (156)
62 YY_MCH ss5811580627 Oct 16, 2022 (156)
63 EVA ss5824471698 Oct 16, 2022 (156)
64 EVA ss5849590011 Oct 16, 2022 (156)
65 EVA ss5879120542 Oct 16, 2022 (156)
66 EVA ss5940667434 Oct 16, 2022 (156)
67 1000Genomes NC_000010.10 - 62136279 Oct 12, 2018 (152)
68 1000Genomes_30x NC_000010.11 - 60376521 Oct 16, 2022 (156)
69 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 62136279 Oct 12, 2018 (152)
70 Chileans NC_000010.10 - 62136279 Apr 26, 2020 (154)
71 Genome-wide autozygosity in Daghestan NC_000010.9 - 61806285 Apr 26, 2020 (154)
72 Genetic variation in the Estonian population NC_000010.10 - 62136279 Oct 12, 2018 (152)
73 The Danish reference pan genome NC_000010.10 - 62136279 Apr 26, 2020 (154)
74 gnomAD - Genomes NC_000010.11 - 60376521 Apr 27, 2021 (155)
75 Genome of the Netherlands Release 5 NC_000010.10 - 62136279 Apr 26, 2020 (154)
76 HapMap NC_000010.11 - 60376521 Apr 26, 2020 (154)
77 KOREAN population from KRGDB NC_000010.10 - 62136279 Apr 26, 2020 (154)
78 Korean Genome Project NC_000010.11 - 60376521 Apr 26, 2020 (154)
79 Northern Sweden NC_000010.10 - 62136279 Jul 13, 2019 (153)
80 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000010.10 - 62136279 Apr 27, 2021 (155)
81 Qatari NC_000010.10 - 62136279 Apr 26, 2020 (154)
82 SGDP_PRJ NC_000010.10 - 62136279 Apr 26, 2020 (154)
83 Siberian NC_000010.10 - 62136279 Apr 26, 2020 (154)
84 8.3KJPN NC_000010.10 - 62136279 Apr 27, 2021 (155)
85 14KJPN NC_000010.11 - 60376521 Oct 16, 2022 (156)
86 TopMed NC_000010.11 - 60376521 Apr 27, 2021 (155)
87 UK 10K study - Twins NC_000010.10 - 62136279 Oct 12, 2018 (152)
88 A Vietnamese Genetic Variation Database NC_000010.10 - 62136279 Jul 13, 2019 (153)
89 ALFA NC_000010.11 - 60376521 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)
rs58214958 Feb 26, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
3614525870 NC_000010.11:60376520:C:A NC_000010.11:60376520:C:A (self)
54559, ss88234625, ss280639475, ss290850033, ss1397583063, ss1597213176, ss1713183684, ss2094862537 NC_000010.9:61806284:C:T NC_000010.11:60376520:C:T (self)
50052564, 27779581, 51778, 19719094, 2180271, 12389291, 29571037, 10655481, 703920, 12952778, 26340971, 6968047, 55848925, 27779581, 6169842, ss224756779, ss235198108, ss241899653, ss561991086, ss656813353, ss987546827, ss1077029966, ss1337656613, ss1426338612, ss1575151973, ss1624680867, ss1667674900, ss1806414800, ss1930910848, ss1967142282, ss2026178535, ss2095012050, ss2154451693, ss2627559582, ss2698695891, ss2889399774, ss2985558247, ss3006568438, ss3651598649, ss3653683854, ss3673980846, ss3737370616, ss3748168514, ss3874323991, ss3922393643, ss3985477993, ss5197879618, ss5393805981, ss5510038728, ss5649397368, ss5824471698, ss5940667434 NC_000010.10:62136278:C:T NC_000010.11:60376520:C:T (self)
65810703, 353793202, 415026, 24365543, 77617883, 69854830, 3614525870, ss2175194774, ss3026880291, ss3689987232, ss3813544629, ss3967987542, ss4854309175, ss5284239219, ss5479797068, ss5578284768, ss5743780779, ss5811580627, ss5849590011, ss5879120542 NC_000010.11:60376520:C:T NC_000010.11:60376520:C:T (self)
ss16048325, ss18412449 NT_008583.16:10687433:C:T NC_000010.11:60376520:C:T (self)
ss24056992, ss66474791, ss76285216, ss82822576, ss102883551, ss131901016, ss173124133 NT_030059.13:12940742:C:T NC_000010.11:60376520: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.

No publications for rs10994322

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