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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.

rs9414741

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:60738510 (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>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.339941 (89979/264690, TOPMED)
G=0.335645 (46993/140008, GnomAD)
G=0.31291 (11654/37244, ALFA) (+ 16 more)
G=0.30173 (5057/16760, 8.3KJPN)
G=0.3462 (1734/5008, 1000G)
G=0.3324 (1489/4480, Estonian)
G=0.3046 (1174/3854, ALSPAC)
G=0.3153 (1169/3708, TWINSUK)
G=0.3741 (1096/2930, KOREAN)
G=0.3755 (688/1832, Korea1K)
G=0.328 (327/998, GoNL)
G=0.328 (197/600, NorthernSweden)
G=0.096 (51/534, MGP)
G=0.333 (110/330, HapMap)
A=0.413 (128/310, SGDP_PRJ)
G=0.356 (77/216, Qatari)
A=0.443 (94/212, Vietnamese)
G=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.60738510A>G
GRCh37.p13 chr 10 NC_000010.10:g.62498268A>G
ANK3 RefSeqGene NG_029917.1:g.17T>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 37244 A=0.68709 G=0.31291
European Sub 30864 A=0.69492 G=0.30508
African Sub 3168 A=0.6117 G=0.3883
African Others Sub 124 A=0.637 G=0.363
African American Sub 3044 A=0.6107 G=0.3893
Asian Sub 128 A=0.461 G=0.539
East Asian Sub 100 A=0.48 G=0.52
Other Asian Sub 28 A=0.39 G=0.61
Latin American 1 Sub 168 A=0.714 G=0.286
Latin American 2 Sub 700 A=0.661 G=0.339
South Asian Sub 114 A=0.807 G=0.193
Other Sub 2102 A=0.6993 G=0.3007


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=0.660059 G=0.339941
gnomAD - Genomes Global Study-wide 140008 A=0.664355 G=0.335645
gnomAD - Genomes European Sub 75848 A=0.68979 G=0.31021
gnomAD - Genomes African Sub 41940 A=0.60677 G=0.39323
gnomAD - Genomes American Sub 13632 A=0.70056 G=0.29944
gnomAD - Genomes Ashkenazi Jewish Sub 3318 A=0.7821 G=0.2179
gnomAD - Genomes East Asian Sub 3122 A=0.5327 G=0.4673
gnomAD - Genomes Other Sub 2148 A=0.6704 G=0.3296
Allele Frequency Aggregator Total Global 37244 A=0.68709 G=0.31291
Allele Frequency Aggregator European Sub 30864 A=0.69492 G=0.30508
Allele Frequency Aggregator African Sub 3168 A=0.6117 G=0.3883
Allele Frequency Aggregator Other Sub 2102 A=0.6993 G=0.3007
Allele Frequency Aggregator Latin American 2 Sub 700 A=0.661 G=0.339
Allele Frequency Aggregator Latin American 1 Sub 168 A=0.714 G=0.286
Allele Frequency Aggregator Asian Sub 128 A=0.461 G=0.539
Allele Frequency Aggregator South Asian Sub 114 A=0.807 G=0.193
8.3KJPN JAPANESE Study-wide 16760 A=0.69827 G=0.30173
1000Genomes Global Study-wide 5008 A=0.6538 G=0.3462
1000Genomes African Sub 1322 A=0.5870 G=0.4130
1000Genomes East Asian Sub 1008 A=0.5327 G=0.4673
1000Genomes Europe Sub 1006 A=0.7087 G=0.2913
1000Genomes South Asian Sub 978 A=0.797 G=0.203
1000Genomes American Sub 694 A=0.676 G=0.324
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.6676 G=0.3324
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.6954 G=0.3046
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.6847 G=0.3153
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.6259 G=0.3741
Korean Genome Project KOREAN Study-wide 1832 A=0.6245 G=0.3755
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.672 G=0.328
Northern Sweden ACPOP Study-wide 600 A=0.672 G=0.328
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.904 G=0.096
HapMap Global Study-wide 330 A=0.667 G=0.333
HapMap African Sub 120 A=0.583 G=0.417
HapMap American Sub 120 A=0.708 G=0.292
HapMap Asian Sub 90 A=0.72 G=0.28
SGDP_PRJ Global Study-wide 310 A=0.413 G=0.587
Qatari Global Study-wide 216 A=0.644 G=0.356
A Vietnamese Genetic Variation Database Global Study-wide 212 A=0.443 G=0.557
The Danish reference pan genome Danish Study-wide 40 A=0.57 G=0.42
Siberian Global Study-wide 22 A=0.27 G=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= G
GRCh38.p13 chr 10 NC_000010.11:g.60738510= NC_000010.11:g.60738510A>G
GRCh37.p13 chr 10 NC_000010.10:g.62498268= NC_000010.10:g.62498268A>G
ANK3 RefSeqGene NG_029917.1:g.17= NG_029917.1:g.17T>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#.

72 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss12953971 Dec 05, 2003 (119)
2 CSHL-HAPMAP ss19184132 Feb 27, 2004 (120)
3 PERLEGEN ss24059072 Sep 20, 2004 (123)
4 ABI ss39827139 Mar 14, 2006 (126)
5 HGSV ss85029374 Dec 14, 2007 (130)
6 1000GENOMES ss109490763 Jan 24, 2009 (130)
7 1000GENOMES ss113347296 Jan 25, 2009 (130)
8 ILLUMINA-UK ss119190034 Feb 15, 2009 (130)
9 GMI ss155111981 Dec 01, 2009 (131)
10 ENSEMBL ss161351843 Dec 01, 2009 (131)
11 COMPLETE_GENOMICS ss168447170 Jul 04, 2010 (132)
12 COMPLETE_GENOMICS ss170175105 Jul 04, 2010 (132)
13 COMPLETE_GENOMICS ss174574890 Jul 04, 2010 (132)
14 BCM-HGSC-SUB ss207086135 Jul 04, 2010 (132)
15 1000GENOMES ss224758210 Jul 14, 2010 (132)
16 1000GENOMES ss235199239 Jul 15, 2010 (132)
17 1000GENOMES ss241900489 Jul 15, 2010 (132)
18 GMI ss280640369 May 04, 2012 (137)
19 PJP ss290850621 May 09, 2011 (134)
20 ILLUMINA ss482623967 May 04, 2012 (137)
21 ILLUMINA ss483006882 May 04, 2012 (137)
22 ILLUMINA ss534993226 Sep 08, 2015 (146)
23 TISHKOFF ss561992870 Apr 25, 2013 (138)
24 SSMP ss656817554 Apr 25, 2013 (138)
25 ILLUMINA ss780118817 Aug 21, 2014 (142)
26 ILLUMINA ss781950336 Aug 21, 2014 (142)
27 ILLUMINA ss835601736 Aug 21, 2014 (142)
28 EVA-GONL ss987549604 Aug 21, 2014 (142)
29 JMKIDD_LAB ss1077032118 Aug 21, 2014 (142)
30 1000GENOMES ss1337666880 Aug 21, 2014 (142)
31 DDI ss1426339503 Apr 01, 2015 (144)
32 EVA_GENOME_DK ss1575154087 Apr 01, 2015 (144)
33 EVA_DECODE ss1597216060 Apr 01, 2015 (144)
34 EVA_UK10K_ALSPAC ss1624686392 Apr 01, 2015 (144)
35 EVA_UK10K_TWINSUK ss1667680425 Apr 01, 2015 (144)
36 EVA_MGP ss1711258347 Apr 01, 2015 (144)
37 HAMMER_LAB ss1806415885 Sep 08, 2015 (146)
38 WEILL_CORNELL_DGM ss1930913529 Feb 12, 2016 (147)
39 GENOMED ss1967142906 Jul 19, 2016 (147)
40 JJLAB ss2026180008 Sep 14, 2016 (149)
41 USC_VALOUEV ss2154453158 Dec 20, 2016 (150)
42 HUMAN_LONGEVITY ss2175215779 Dec 20, 2016 (150)
43 TOPMED ss2338248133 Dec 20, 2016 (150)
44 ILLUMINA ss2632717831 Nov 08, 2017 (151)
45 GRF ss2698697274 Nov 08, 2017 (151)
46 GNOMAD ss2889427968 Nov 08, 2017 (151)
47 AFFY ss2984913303 Nov 08, 2017 (151)
48 AFFY ss2985558282 Nov 08, 2017 (151)
49 SWEGEN ss3006572548 Nov 08, 2017 (151)
50 BIOINF_KMB_FNS_UNIBA ss3026881143 Nov 08, 2017 (151)
51 TOPMED ss3121330901 Nov 08, 2017 (151)
52 CSHL ss3349150215 Nov 08, 2017 (151)
53 ILLUMINA ss3626457958 Oct 12, 2018 (152)
54 ILLUMINA ss3630743269 Oct 12, 2018 (152)
55 ILLUMINA ss3641680829 Oct 12, 2018 (152)
56 ILLUMINA ss3653683884 Oct 12, 2018 (152)
57 EGCUT_WGS ss3673985016 Jul 13, 2019 (153)
58 EVA_DECODE ss3689992280 Jul 13, 2019 (153)
59 ACPOP ss3737372889 Jul 13, 2019 (153)
60 EVA ss3748171570 Jul 13, 2019 (153)
61 PACBIO ss3786688951 Jul 13, 2019 (153)
62 PACBIO ss3791867459 Jul 13, 2019 (153)
63 PACBIO ss3796749477 Jul 13, 2019 (153)
64 KHV_HUMAN_GENOMES ss3813547244 Jul 13, 2019 (153)
65 EVA ss3832155478 Apr 26, 2020 (154)
66 EVA ss3839617209 Apr 26, 2020 (154)
67 EVA ss3845089447 Apr 26, 2020 (154)
68 SGDP_PRJ ss3874329254 Apr 26, 2020 (154)
69 KRGDB ss3922399215 Apr 26, 2020 (154)
70 KOGIC ss3967991983 Apr 26, 2020 (154)
71 TOPMED ss4854397737 Apr 27, 2021 (155)
72 TOMMO_GENOMICS ss5197890462 Apr 27, 2021 (155)
73 1000Genomes NC_000010.10 - 62498268 Oct 12, 2018 (152)
74 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 62498268 Oct 12, 2018 (152)
75 Genetic variation in the Estonian population NC_000010.10 - 62498268 Oct 12, 2018 (152)
76 The Danish reference pan genome NC_000010.10 - 62498268 Apr 26, 2020 (154)
77 gnomAD - Genomes NC_000010.11 - 60738510 Apr 27, 2021 (155)
78 Genome of the Netherlands Release 5 NC_000010.10 - 62498268 Apr 26, 2020 (154)
79 HapMap NC_000010.11 - 60738510 Apr 26, 2020 (154)
80 KOREAN population from KRGDB NC_000010.10 - 62498268 Apr 26, 2020 (154)
81 Korean Genome Project NC_000010.11 - 60738510 Apr 26, 2020 (154)
82 Medical Genome Project healthy controls from Spanish population NC_000010.10 - 62498268 Apr 26, 2020 (154)
83 Northern Sweden NC_000010.10 - 62498268 Jul 13, 2019 (153)
84 Qatari NC_000010.10 - 62498268 Apr 26, 2020 (154)
85 SGDP_PRJ NC_000010.10 - 62498268 Apr 26, 2020 (154)
86 Siberian NC_000010.10 - 62498268 Apr 26, 2020 (154)
87 8.3KJPN NC_000010.10 - 62498268 Apr 27, 2021 (155)
88 TopMed NC_000010.11 - 60738510 Apr 27, 2021 (155)
89 UK 10K study - Twins NC_000010.10 - 62498268 Oct 12, 2018 (152)
90 A Vietnamese Genetic Variation Database NC_000010.10 - 62498268 Jul 13, 2019 (153)
91 ALFA NC_000010.11 - 60738510 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)
rs56682338 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss85029374 NC_000010.8:62168273:A:G NC_000010.11:60738509:A:G (self)
ss109490763, ss113347296, ss119190034, ss168447170, ss170175105, ss174574890, ss207086135, ss280640369, ss290850621, ss482623967, ss1597216060 NC_000010.9:62168273:A:G NC_000010.11:60738509:A:G (self)
50063206, 27785633, 19723264, 2181543, 12392019, 29576609, 374107, 10657754, 12955459, 26346234, 6969512, 55859769, 27785633, 6171088, ss224758210, ss235199239, ss241900489, ss483006882, ss534993226, ss561992870, ss656817554, ss780118817, ss781950336, ss835601736, ss987549604, ss1077032118, ss1337666880, ss1426339503, ss1575154087, ss1624686392, ss1667680425, ss1711258347, ss1806415885, ss1930913529, ss1967142906, ss2026180008, ss2154453158, ss2338248133, ss2632717831, ss2698697274, ss2889427968, ss2984913303, ss2985558282, ss3006572548, ss3349150215, ss3626457958, ss3630743269, ss3641680829, ss3653683884, ss3673985016, ss3737372889, ss3748171570, ss3786688951, ss3791867459, ss3796749477, ss3832155478, ss3839617209, ss3874329254, ss3922399215, ss5197890462 NC_000010.10:62498267:A:G NC_000010.11:60738509:A:G (self)
353865430, 415642, 24369984, 43946808, 69943392, 1467546392, ss2175215779, ss3026881143, ss3121330901, ss3689992280, ss3813547244, ss3845089447, ss3967991983, ss4854397737 NC_000010.11:60738509:A:G NC_000010.11:60738509:A:G (self)
ss12953971 NT_008583.15:11049415:A:G NC_000010.11:60738509:A:G (self)
ss19184132 NT_008583.16:11049422:A:G NC_000010.11:60738509:A:G (self)
ss24059072, ss39827139, ss155111981, ss161351843 NT_030059.13:13302731:A:G NC_000010.11:60738509: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 rs9414741

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