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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.

rs765691

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:62294176 (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
T>A / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.291367 (77122/264690, TOPMED)
A=0.18352 (5186/28258, 14KJPN)
A=0.28152 (5318/18890, ALFA) (+ 16 more)
A=0.17870 (2995/16760, 8.3KJPN)
A=0.2472 (1583/6404, 1000G_30x)
A=0.2466 (1235/5008, 1000G)
A=0.1879 (842/4480, Estonian)
A=0.3085 (1189/3854, ALSPAC)
A=0.3047 (1130/3708, TWINSUK)
A=0.1092 (320/2930, KOREAN)
A=0.1174 (215/1832, Korea1K)
A=0.2893 (515/1780, HapMap)
A=0.325 (324/998, GoNL)
A=0.203 (122/600, NorthernSweden)
A=0.403 (87/216, Qatari)
A=0.028 (6/216, Vietnamese)
T=0.365 (76/208, SGDP_PRJ)
A=0.28 (11/40, GENOME_DK)
T=0.36 (8/22, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
KANK4 : 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 18890 T=0.71848 A=0.28152
European Sub 14286 T=0.72862 A=0.27138
African Sub 2946 T=0.6531 A=0.3469
African Others Sub 114 T=0.596 A=0.404
African American Sub 2832 T=0.6554 A=0.3446
Asian Sub 112 T=0.902 A=0.098
East Asian Sub 86 T=0.91 A=0.09
Other Asian Sub 26 T=0.88 A=0.12
Latin American 1 Sub 146 T=0.610 A=0.390
Latin American 2 Sub 610 T=0.792 A=0.208
South Asian Sub 98 T=0.80 A=0.20
Other Sub 692 T=0.705 A=0.295


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=0.708633 A=0.291367
14KJPN JAPANESE Study-wide 28258 T=0.81648 A=0.18352
Allele Frequency Aggregator Total Global 18890 T=0.71848 A=0.28152
Allele Frequency Aggregator European Sub 14286 T=0.72862 A=0.27138
Allele Frequency Aggregator African Sub 2946 T=0.6531 A=0.3469
Allele Frequency Aggregator Other Sub 692 T=0.705 A=0.295
Allele Frequency Aggregator Latin American 2 Sub 610 T=0.792 A=0.208
Allele Frequency Aggregator Latin American 1 Sub 146 T=0.610 A=0.390
Allele Frequency Aggregator Asian Sub 112 T=0.902 A=0.098
Allele Frequency Aggregator South Asian Sub 98 T=0.80 A=0.20
8.3KJPN JAPANESE Study-wide 16760 T=0.82130 A=0.17870
1000Genomes_30x Global Study-wide 6404 T=0.7528 A=0.2472
1000Genomes_30x African Sub 1786 T=0.6702 A=0.3298
1000Genomes_30x Europe Sub 1266 T=0.7093 A=0.2907
1000Genomes_30x South Asian Sub 1202 T=0.7762 A=0.2238
1000Genomes_30x East Asian Sub 1170 T=0.8991 A=0.1009
1000Genomes_30x American Sub 980 T=0.756 A=0.244
1000Genomes Global Study-wide 5008 T=0.7534 A=0.2466
1000Genomes African Sub 1322 T=0.6536 A=0.3464
1000Genomes East Asian Sub 1008 T=0.9008 A=0.0992
1000Genomes Europe Sub 1006 T=0.7137 A=0.2863
1000Genomes South Asian Sub 978 T=0.772 A=0.228
1000Genomes American Sub 694 T=0.761 A=0.239
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.8121 A=0.1879
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.6915 A=0.3085
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.6953 A=0.3047
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.8908 A=0.1092
Korean Genome Project KOREAN Study-wide 1832 T=0.8826 A=0.1174
HapMap Global Study-wide 1780 T=0.7107 A=0.2893
HapMap American Sub 770 T=0.771 A=0.229
HapMap African Sub 580 T=0.598 A=0.402
HapMap Asian Sub 254 T=0.827 A=0.173
HapMap Europe Sub 176 T=0.648 A=0.352
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.675 A=0.325
Northern Sweden ACPOP Study-wide 600 T=0.797 A=0.203
Qatari Global Study-wide 216 T=0.597 A=0.403
A Vietnamese Genetic Variation Database Global Study-wide 216 T=0.972 A=0.028
SGDP_PRJ Global Study-wide 208 T=0.365 A=0.635
The Danish reference pan genome Danish Study-wide 40 T=0.72 A=0.28
Siberian Global Study-wide 22 T=0.36 A=0.64
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 1 NC_000001.11:g.62294176T>A
GRCh38.p14 chr 1 NC_000001.11:g.62294176T>C
GRCh37.p13 chr 1 NC_000001.10:g.62759848T>A
GRCh37.p13 chr 1 NC_000001.10:g.62759848T>C
Gene: KANK4, KN motif and ankyrin repeat domains 4 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
KANK4 transcript variant 2 NM_001320269.2:c.-70-1254…

NM_001320269.2:c.-70-12542A>T

N/A Intron Variant
KANK4 transcript variant 1 NM_181712.5:c.-70-12542A>T N/A Intron Variant
KANK4 transcript variant X4 XM_011540845.4:c.-70-1254…

XM_011540845.4:c.-70-12542A>T

N/A Intron Variant
KANK4 transcript variant X5 XM_017000483.3:c.-70-1254…

XM_017000483.3:c.-70-12542A>T

N/A Intron Variant
KANK4 transcript variant X6 XM_017000484.3:c.-262-702…

XM_017000484.3:c.-262-7023A>T

N/A Intron Variant
KANK4 transcript variant X1 XM_047447839.1:c.-262-702…

XM_047447839.1:c.-262-7023A>T

N/A Intron Variant
KANK4 transcript variant X7 XM_017000485.3:c. N/A Genic Upstream Transcript Variant
KANK4 transcript variant X2 XM_047447840.1:c. N/A Genic Upstream Transcript Variant
KANK4 transcript variant X3 XM_047447850.1: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
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= A C
GRCh38.p14 chr 1 NC_000001.11:g.62294176= NC_000001.11:g.62294176T>A NC_000001.11:g.62294176T>C
GRCh37.p13 chr 1 NC_000001.10:g.62759848= NC_000001.10:g.62759848T>A NC_000001.10:g.62759848T>C
KANK4 transcript variant 2 NM_001320269.2:c.-70-12542= NM_001320269.2:c.-70-12542A>T NM_001320269.2:c.-70-12542A>G
KANK4 transcript variant 1 NM_181712.4:c.-70-12542= NM_181712.4:c.-70-12542A>T NM_181712.4:c.-70-12542A>G
KANK4 transcript variant 1 NM_181712.5:c.-70-12542= NM_181712.5:c.-70-12542A>T NM_181712.5:c.-70-12542A>G
KANK4 transcript variant X4 XM_011540845.4:c.-70-12542= XM_011540845.4:c.-70-12542A>T XM_011540845.4:c.-70-12542A>G
KANK4 transcript variant X5 XM_017000483.3:c.-70-12542= XM_017000483.3:c.-70-12542A>T XM_017000483.3:c.-70-12542A>G
KANK4 transcript variant X6 XM_017000484.3:c.-262-7023= XM_017000484.3:c.-262-7023A>T XM_017000484.3:c.-262-7023A>G
KANK4 transcript variant X1 XM_047447839.1:c.-262-7023= XM_047447839.1:c.-262-7023A>T XM_047447839.1:c.-262-7023A>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#.

74 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss152691 Oct 05, 2000 (86)
2 SC_JCM ss3761959 Sep 28, 2001 (100)
3 SC_JCM ss5796952 Feb 20, 2003 (111)
4 BCM_SSAHASNP ss9856115 Jul 11, 2003 (116)
5 SSAHASNP ss20484205 Apr 05, 2004 (121)
6 PERLEGEN ss23691422 Sep 20, 2004 (123)
7 ABI ss41109731 Mar 14, 2006 (126)
8 AFFY ss66139070 Dec 02, 2006 (127)
9 AFFY ss76154730 Dec 07, 2007 (129)
10 KRIBB_YJKIM ss81437169 Dec 15, 2007 (130)
11 BCMHGSC_JDW ss87480629 Mar 23, 2008 (129)
12 HUMANGENOME_JCVI ss97941698 Feb 03, 2009 (130)
13 ILLUMINA-UK ss118739680 Feb 14, 2009 (130)
14 ENSEMBL ss137967172 Dec 01, 2009 (131)
15 ENSEMBL ss138924549 Dec 01, 2009 (131)
16 COMPLETE_GENOMICS ss166599554 Jul 04, 2010 (132)
17 AFFY ss172658790 Jul 04, 2010 (132)
18 BUSHMAN ss198525106 Jul 04, 2010 (132)
19 1000GENOMES ss210537896 Jul 14, 2010 (132)
20 1000GENOMES ss218413771 Jul 14, 2010 (132)
21 1000GENOMES ss230555839 Jul 14, 2010 (132)
22 1000GENOMES ss238246425 Jul 15, 2010 (132)
23 BL ss253131963 May 09, 2011 (134)
24 GMI ss275847134 May 04, 2012 (137)
25 GMI ss284059733 Apr 25, 2013 (138)
26 PJP ss290521848 May 09, 2011 (134)
27 TISHKOFF ss554171251 Apr 25, 2013 (138)
28 SSMP ss648028098 Apr 25, 2013 (138)
29 EVA-GONL ss975214623 Aug 21, 2014 (142)
30 JMKIDD_LAB ss1067928891 Aug 21, 2014 (142)
31 1000GENOMES ss1291100643 Aug 21, 2014 (142)
32 DDI ss1425826263 Apr 01, 2015 (144)
33 EVA_GENOME_DK ss1574097732 Apr 01, 2015 (144)
34 EVA_DECODE ss1584582677 Apr 01, 2015 (144)
35 EVA_UK10K_ALSPAC ss1600284725 Apr 01, 2015 (144)
36 EVA_UK10K_TWINSUK ss1643278758 Apr 01, 2015 (144)
37 EVA_SVP ss1712337532 Apr 01, 2015 (144)
38 HAMMER_LAB ss1794447606 Sep 08, 2015 (146)
39 WEILL_CORNELL_DGM ss1918423164 Feb 12, 2016 (147)
40 GENOMED ss1966758047 Jul 19, 2016 (147)
41 JJLAB ss2019728014 Sep 14, 2016 (149)
42 USC_VALOUEV ss2147743722 Dec 20, 2016 (150)
43 HUMAN_LONGEVITY ss2162934486 Dec 20, 2016 (150)
44 GRF ss2697659359 Nov 08, 2017 (151)
45 GNOMAD ss2755727450 Nov 08, 2017 (151)
46 SWEGEN ss2986900076 Nov 08, 2017 (151)
47 BIOINF_KMB_FNS_UNIBA ss3023624789 Nov 08, 2017 (151)
48 CSHL ss3343478181 Nov 08, 2017 (151)
49 URBANLAB ss3646673859 Oct 11, 2018 (152)
50 EGCUT_WGS ss3654968300 Jul 12, 2019 (153)
51 EVA_DECODE ss3686873475 Jul 12, 2019 (153)
52 ACPOP ss3727092601 Jul 12, 2019 (153)
53 EVA ss3746269854 Jul 12, 2019 (153)
54 PACBIO ss3783423207 Jul 12, 2019 (153)
55 PACBIO ss3789079202 Jul 12, 2019 (153)
56 PACBIO ss3793951947 Jul 12, 2019 (153)
57 KHV_HUMAN_GENOMES ss3799276661 Jul 12, 2019 (153)
58 EVA ss3826198068 Apr 25, 2020 (154)
59 SGDP_PRJ ss3848954388 Apr 25, 2020 (154)
60 KRGDB ss3893975317 Apr 25, 2020 (154)
61 KOGIC ss3944613918 Apr 25, 2020 (154)
62 TOPMED ss4451551842 Apr 25, 2021 (155)
63 TOMMO_GENOMICS ss5144180905 Apr 25, 2021 (155)
64 1000G_HIGH_COVERAGE ss5242449661 Oct 17, 2022 (156)
65 EVA ss5319058067 Oct 17, 2022 (156)
66 HUGCELL_USP ss5443492805 Oct 17, 2022 (156)
67 EVA ss5505868188 Oct 17, 2022 (156)
68 1000G_HIGH_COVERAGE ss5514815984 Oct 17, 2022 (156)
69 SANFORD_IMAGENETICS ss5625632941 Oct 17, 2022 (156)
70 TOMMO_GENOMICS ss5669018673 Oct 17, 2022 (156)
71 YY_MCH ss5800641656 Oct 17, 2022 (156)
72 EVA ss5832029139 Oct 17, 2022 (156)
73 EVA ss5908468728 Oct 17, 2022 (156)
74 EVA ss5937469165 Oct 17, 2022 (156)
75 1000Genomes NC_000001.10 - 62759848 Oct 11, 2018 (152)
76 1000Genomes_30x NC_000001.11 - 62294176 Oct 17, 2022 (156)
77 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 62759848 Oct 11, 2018 (152)
78 Genetic variation in the Estonian population NC_000001.10 - 62759848 Oct 11, 2018 (152)
79 The Danish reference pan genome NC_000001.10 - 62759848 Apr 25, 2020 (154)
80 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 12873161 (NC_000001.11:62294175:T:A 40395/140120)
Row 12873162 (NC_000001.11:62294175:T:C 1/140176)

- Apr 25, 2021 (155)
81 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 12873161 (NC_000001.11:62294175:T:A 40395/140120)
Row 12873162 (NC_000001.11:62294175:T:C 1/140176)

- Apr 25, 2021 (155)
82 Genome of the Netherlands Release 5 NC_000001.10 - 62759848 Apr 25, 2020 (154)
83 HapMap NC_000001.11 - 62294176 Apr 25, 2020 (154)
84 KOREAN population from KRGDB NC_000001.10 - 62759848 Apr 25, 2020 (154)
85 Korean Genome Project NC_000001.11 - 62294176 Apr 25, 2020 (154)
86 Northern Sweden NC_000001.10 - 62759848 Jul 12, 2019 (153)
87 Qatari NC_000001.10 - 62759848 Apr 25, 2020 (154)
88 SGDP_PRJ NC_000001.10 - 62759848 Apr 25, 2020 (154)
89 Siberian NC_000001.10 - 62759848 Apr 25, 2020 (154)
90 8.3KJPN NC_000001.10 - 62759848 Apr 25, 2021 (155)
91 14KJPN NC_000001.11 - 62294176 Oct 17, 2022 (156)
92 TopMed NC_000001.11 - 62294176 Apr 25, 2021 (155)
93 UK 10K study - Twins NC_000001.10 - 62759848 Oct 11, 2018 (152)
94 A Vietnamese Genetic Variation Database NC_000001.10 - 62759848 Jul 12, 2019 (153)
95 ALFA NC_000001.11 - 62294176 Apr 25, 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)
rs58462732 Feb 26, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss66139070, ss76154730, ss87480629, ss118739680, ss166599554, ss172658790, ss198525106, ss210537896, ss253131963, ss275847134, ss284059733, ss290521848, ss1584582677, ss1712337532 NC_000001.9:62532435:T:A NC_000001.11:62294175:T:A (self)
1826103, 998002, 706548, 1523116, 424906, 1152711, 377466, 465094, 971368, 260076, 2150212, 998002, 207636, ss218413771, ss230555839, ss238246425, ss554171251, ss648028098, ss975214623, ss1067928891, ss1291100643, ss1425826263, ss1574097732, ss1600284725, ss1643278758, ss1794447606, ss1918423164, ss1966758047, ss2019728014, ss2147743722, ss2697659359, ss2755727450, ss2986900076, ss3343478181, ss3654968300, ss3727092601, ss3746269854, ss3783423207, ss3789079202, ss3793951947, ss3826198068, ss3848954388, ss3893975317, ss5144180905, ss5319058067, ss5505868188, ss5625632941, ss5832029139, ss5937469165 NC_000001.10:62759847:T:A NC_000001.11:62294175:T:A (self)
2341919, 80337, 991919, 2855777, 15158177, 15157481189, ss2162934486, ss3023624789, ss3646673859, ss3686873475, ss3799276661, ss3944613918, ss4451551842, ss5242449661, ss5443492805, ss5514815984, ss5669018673, ss5800641656, ss5908468728 NC_000001.11:62294175:T:A NC_000001.11:62294175:T:A (self)
ss9856115 NT_032977.5:15208758:T:A NC_000001.11:62294175:T:A (self)
ss20484205 NT_032977.6:24322917:T:A NC_000001.11:62294175:T:A (self)
ss152691, ss3761959, ss5796952, ss23691422, ss41109731, ss81437169, ss97941698, ss137967172, ss138924549 NT_032977.9:32731765:T:A NC_000001.11:62294175:T:A (self)
NC_000001.11:62294175:T:C NC_000001.11:62294175: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 rs765691

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