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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.

rs9414740

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:60721166 (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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.019876 (5261/264690, TOPMED)
C=0.023397 (3281/140234, GnomAD)
C=0.02864 (865/30204, ALFA) (+ 13 more)
C=0.0106 (53/5008, 1000G)
C=0.0239 (107/4480, Estonian)
C=0.0314 (121/3854, ALSPAC)
C=0.0386 (143/3708, TWINSUK)
C=0.060 (60/998, GoNL)
C=0.050 (30/600, NorthernSweden)
C=0.003 (1/326, HapMap)
C=0.009 (2/216, Qatari)
C=0.03 (1/40, GENOME_DK)
T=0.50 (7/14, SGDP_PRJ)
C=0.50 (7/14, SGDP_PRJ)
T=0.5 (1/2, Siberian)
C=0.5 (1/2, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ANK3 : 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.60721166T>C
GRCh37.p13 chr 10 NC_000010.10:g.62480924T>C
ANK3 RefSeqGene NG_029917.1:g.17361A>G
Gene: ANK3, ankyrin 3 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ANK3 transcript variant 3 NM_001204403.2:c.57+12097…

NM_001204403.2:c.57+12097A>G

N/A Intron Variant
ANK3 transcript variant 2 NM_001149.4:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant 4 NM_001204404.2:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant 5 NM_001320874.2:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant 1 NM_020987.5:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X38 XM_005269715.3:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X25 XM_006717796.3:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X34 XM_006717802.3:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X24 XM_011539708.2:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X27 XM_011539709.2:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X1 XM_017016110.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X2 XM_017016111.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X3 XM_017016112.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X4 XM_017016113.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X6 XM_017016114.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X10 XM_017016115.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X16 XM_017016116.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X17 XM_017016117.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X19 XM_017016118.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X20 XM_017016119.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X21 XM_017016120.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X22 XM_017016121.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X26 XM_017016122.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X28 XM_017016123.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X29 XM_017016124.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X30 XM_017016125.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X31 XM_017016126.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X32 XM_017016127.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X35 XM_017016128.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X36 XM_017016129.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X39 XM_017016130.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X40 XM_017016131.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X41 XM_017016132.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X42 XM_017016134.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X43 XM_017016136.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X44 XM_017016137.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X45 XM_017016138.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X46 XM_017016141.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X5 XM_024447953.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X7 XM_024447954.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X8 XM_024447955.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X9 XM_024447956.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X11 XM_024447957.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X12 XM_024447958.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X13 XM_024447959.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X14 XM_024447960.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X15 XM_024447961.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X18 XM_024447962.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X23 XM_024447963.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X33 XM_024447964.1:c. N/A Genic Upstream Transcript Variant
ANK3 transcript variant X37 XM_024447965.1: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

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 30204 T=0.97136 C=0.02864
European Sub 24722 T=0.96728 C=0.03272
African Sub 3168 T=0.9959 C=0.0041
African Others Sub 124 T=1.000 C=0.000
African American Sub 3044 T=0.9957 C=0.0043
Asian Sub 128 T=1.000 C=0.000
East Asian Sub 100 T=1.00 C=0.00
Other Asian Sub 28 T=1.00 C=0.00
Latin American 1 Sub 168 T=0.988 C=0.012
Latin American 2 Sub 698 T=0.994 C=0.006
South Asian Sub 114 T=0.974 C=0.026
Other Sub 1206 T=0.9718 C=0.0282


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 T=0.980124 C=0.019876
gnomAD - Genomes Global Study-wide 140234 T=0.976603 C=0.023397
gnomAD - Genomes European Sub 75936 T=0.96260 C=0.03740
gnomAD - Genomes African Sub 42040 T=0.99348 C=0.00652
gnomAD - Genomes American Sub 13650 T=0.99128 C=0.00872
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.9967 C=0.0033
gnomAD - Genomes East Asian Sub 3132 T=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2154 T=0.9828 C=0.0172
1000Genomes Global Study-wide 5008 T=0.9894 C=0.0106
1000Genomes African Sub 1322 T=0.9977 C=0.0023
1000Genomes East Asian Sub 1008 T=1.0000 C=0.0000
1000Genomes Europe Sub 1006 T=0.9672 C=0.0328
1000Genomes South Asian Sub 978 T=0.991 C=0.009
1000Genomes American Sub 694 T=0.988 C=0.012
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.9761 C=0.0239
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.9686 C=0.0314
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.9614 C=0.0386
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.940 C=0.060
Northern Sweden ACPOP Study-wide 600 T=0.950 C=0.050
HapMap Global Study-wide 326 T=0.997 C=0.003
HapMap African Sub 120 T=1.000 C=0.000
HapMap American Sub 116 T=0.991 C=0.009
HapMap Asian Sub 90 T=1.00 C=0.00
Qatari Global Study-wide 216 T=0.991 C=0.009
The Danish reference pan genome Danish Study-wide 40 T=0.97 C=0.03
SGDP_PRJ Global Study-wide 14 T=0.50 C=0.50
Siberian Global Study-wide 2 T=0.5 C=0.5
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 T= C
GRCh38.p13 chr 10 NC_000010.11:g.60721166= NC_000010.11:g.60721166T>C
GRCh37.p13 chr 10 NC_000010.10:g.62480924= NC_000010.10:g.62480924T>C
ANK3 RefSeqGene NG_029917.1:g.17361= NG_029917.1:g.17361A>G
ANK3 transcript variant 3 NM_001204403.1:c.57+12097= NM_001204403.1:c.57+12097A>G
ANK3 transcript variant 3 NM_001204403.2:c.57+12097= NM_001204403.2:c.57+12097A>G
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#.

35 SubSNP, 14 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss12953970 Dec 05, 2003 (119)
2 1000GENOMES ss235199190 Jul 15, 2010 (132)
3 ILLUMINA ss479176991 May 04, 2012 (137)
4 ILLUMINA ss482623940 May 04, 2012 (137)
5 ILLUMINA ss532770601 Sep 08, 2015 (146)
6 ILLUMINA ss779537927 Sep 08, 2015 (146)
7 ILLUMINA ss780916317 Sep 08, 2015 (146)
8 ILLUMINA ss835008616 Sep 08, 2015 (146)
9 EVA-GONL ss987549491 Aug 21, 2014 (142)
10 JMKIDD_LAB ss1077032040 Aug 21, 2014 (142)
11 1000GENOMES ss1337666410 Aug 21, 2014 (142)
12 EVA_GENOME_DK ss1575154019 Apr 01, 2015 (144)
13 EVA_DECODE ss1597215938 Apr 01, 2015 (144)
14 EVA_UK10K_ALSPAC ss1624686146 Apr 01, 2015 (144)
15 EVA_UK10K_TWINSUK ss1667680179 Apr 01, 2015 (144)
16 WEILL_CORNELL_DGM ss1930913416 Feb 12, 2016 (147)
17 JJLAB ss2026179946 Sep 14, 2016 (149)
18 ILLUMINA ss2094863541 Dec 20, 2016 (150)
19 ILLUMINA ss2095012930 Dec 20, 2016 (150)
20 USC_VALOUEV ss2154453103 Dec 20, 2016 (150)
21 HUMAN_LONGEVITY ss2175214809 Dec 20, 2016 (150)
22 TOPMED ss2338247162 Dec 20, 2016 (150)
23 ILLUMINA ss2632717817 Nov 08, 2017 (151)
24 GNOMAD ss2889426666 Nov 08, 2017 (151)
25 SWEGEN ss3006572370 Nov 08, 2017 (151)
26 TOPMED ss3121327924 Nov 08, 2017 (151)
27 ILLUMINA ss3626457940 Oct 12, 2018 (152)
28 ILLUMINA ss3630743257 Oct 12, 2018 (152)
29 ILLUMINA ss3641680826 Oct 12, 2018 (152)
30 ILLUMINA ss3651599672 Oct 12, 2018 (152)
31 EGCUT_WGS ss3673984826 Jul 13, 2019 (153)
32 EVA_DECODE ss3689992081 Jul 13, 2019 (153)
33 ACPOP ss3737372796 Jul 13, 2019 (153)
34 SGDP_PRJ ss3874329055 Apr 26, 2020 (154)
35 TOPMED ss4854393564 Apr 27, 2021 (155)
36 1000Genomes NC_000010.10 - 62480924 Oct 12, 2018 (152)
37 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 62480924 Oct 12, 2018 (152)
38 Genetic variation in the Estonian population NC_000010.10 - 62480924 Oct 12, 2018 (152)
39 The Danish reference pan genome NC_000010.10 - 62480924 Apr 26, 2020 (154)
40 gnomAD - Genomes NC_000010.11 - 60721166 Apr 27, 2021 (155)
41 Genome of the Netherlands Release 5 NC_000010.10 - 62480924 Apr 26, 2020 (154)
42 HapMap NC_000010.11 - 60721166 Apr 26, 2020 (154)
43 Northern Sweden NC_000010.10 - 62480924 Jul 13, 2019 (153)
44 Qatari NC_000010.10 - 62480924 Apr 26, 2020 (154)
45 SGDP_PRJ NC_000010.10 - 62480924 Apr 26, 2020 (154)
46 Siberian NC_000010.10 - 62480924 Apr 26, 2020 (154)
47 TopMed NC_000010.11 - 60721166 Apr 27, 2021 (155)
48 UK 10K study - Twins NC_000010.10 - 62480924 Oct 12, 2018 (152)
49 ALFA NC_000010.11 - 60721166 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss482623940, ss1597215938, ss2094863541 NC_000010.9:62150929:T:C NC_000010.11:60721165:T:C (self)
50062724, 27785365, 19723074, 2181494, 12391910, 10657661, 12955346, 26346035, 6969457, 27785365, ss235199190, ss479176991, ss532770601, ss779537927, ss780916317, ss835008616, ss987549491, ss1077032040, ss1337666410, ss1575154019, ss1624686146, ss1667680179, ss1930913416, ss2026179946, ss2095012930, ss2154453103, ss2338247162, ss2632717817, ss2889426666, ss3006572370, ss3626457940, ss3630743257, ss3641680826, ss3651599672, ss3673984826, ss3737372796, ss3874329055 NC_000010.10:62480923:T:C NC_000010.11:60721165:T:C (self)
353862106, 415613, 43944177, 69939219, 2200018054, ss2175214809, ss3121327924, ss3689992081, ss4854393564 NC_000010.11:60721165:T:C NC_000010.11:60721165:T:C (self)
ss12953970 NT_008583.15:11032071:T:C NC_000010.11:60721165:T: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 rs9414740

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