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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs11264257

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:154768187 (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
A>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.455110 (120463/264690, TOPMED)
G=0.429761 (60176/140022, GnomAD)
A=0.35302 (9975/28256, 14KJPN) (+ 17 more)
G=0.43574 (12009/27560, ALFA)
A=0.35101 (5883/16760, 8.3KJPN)
G=0.4859 (3112/6404, 1000G_30x)
G=0.4894 (2451/5008, 1000G)
G=0.4277 (1916/4480, Estonian)
G=0.4561 (1758/3854, ALSPAC)
G=0.4560 (1691/3708, TWINSUK)
A=0.2713 (795/2930, KOREAN)
A=0.2680 (491/1832, Korea1K)
G=0.4735 (537/1134, Daghestan)
G=0.456 (455/998, GoNL)
G=0.463 (278/600, NorthernSweden)
A=0.305 (125/410, SGDP_PRJ)
G=0.421 (91/216, Qatari)
A=0.380 (82/216, Vietnamese)
A=0.36 (18/50, Siberian)
G=0.38 (15/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
KCNN3 : 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 27654 A=0.56451 G=0.43549, T=0.00000
European Sub 20106 A=0.55541 G=0.44459, T=0.00000
African Sub 5280 A=0.6394 G=0.3606, T=0.0000
African Others Sub 184 A=0.658 G=0.342, T=0.000
African American Sub 5096 A=0.6387 G=0.3613, T=0.0000
Asian Sub 118 A=0.280 G=0.720, T=0.000
East Asian Sub 90 A=0.28 G=0.72, T=0.00
Other Asian Sub 28 A=0.29 G=0.71, T=0.00
Latin American 1 Sub 154 A=0.474 G=0.526, T=0.000
Latin American 2 Sub 616 A=0.372 G=0.628, T=0.000
South Asian Sub 100 A=0.48 G=0.52, T=0.00
Other Sub 1280 A=0.5352 G=0.4648, T=0.0000


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=0.544890 G=0.455110
gnomAD - Genomes Global Study-wide 140022 A=0.570239 G=0.429761
gnomAD - Genomes European Sub 75848 A=0.56397 G=0.43603
gnomAD - Genomes African Sub 41952 A=0.63108 G=0.36892
gnomAD - Genomes American Sub 13624 A=0.44759 G=0.55241
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.6954 G=0.3046
gnomAD - Genomes East Asian Sub 3128 A=0.3302 G=0.6698
gnomAD - Genomes Other Sub 2148 A=0.5372 G=0.4628
14KJPN JAPANESE Study-wide 28256 A=0.35302 G=0.64698
Allele Frequency Aggregator Total Global 27560 A=0.56426 G=0.43574, T=0.00000
Allele Frequency Aggregator European Sub 20030 A=0.55527 G=0.44473, T=0.00000
Allele Frequency Aggregator African Sub 5280 A=0.6394 G=0.3606, T=0.0000
Allele Frequency Aggregator Other Sub 1262 A=0.5309 G=0.4691, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 616 A=0.372 G=0.628, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 154 A=0.474 G=0.526, T=0.000
Allele Frequency Aggregator Asian Sub 118 A=0.280 G=0.720, T=0.000
Allele Frequency Aggregator South Asian Sub 100 A=0.48 G=0.52, T=0.00
8.3KJPN JAPANESE Study-wide 16760 A=0.35101 G=0.64899
1000Genomes_30x Global Study-wide 6404 A=0.5141 G=0.4859
1000Genomes_30x African Sub 1786 A=0.6417 G=0.3583
1000Genomes_30x Europe Sub 1266 A=0.5774 G=0.4226
1000Genomes_30x South Asian Sub 1202 A=0.5050 G=0.4950
1000Genomes_30x East Asian Sub 1170 A=0.3684 G=0.6316
1000Genomes_30x American Sub 980 A=0.385 G=0.615
1000Genomes Global Study-wide 5008 A=0.5106 G=0.4894
1000Genomes African Sub 1322 A=0.6430 G=0.3570
1000Genomes East Asian Sub 1008 A=0.3671 G=0.6329
1000Genomes Europe Sub 1006 A=0.5805 G=0.4195
1000Genomes South Asian Sub 978 A=0.505 G=0.495
1000Genomes American Sub 694 A=0.373 G=0.627
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.5723 G=0.4277
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.5439 G=0.4561
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.5440 G=0.4560
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.2713 G=0.7287
Korean Genome Project KOREAN Study-wide 1832 A=0.2680 G=0.7320
Genome-wide autozygosity in Daghestan Global Study-wide 1134 A=0.5265 G=0.4735
Genome-wide autozygosity in Daghestan Daghestan Sub 628 A=0.525 G=0.475
Genome-wide autozygosity in Daghestan Near_East Sub 144 A=0.611 G=0.389
Genome-wide autozygosity in Daghestan Central Asia Sub 122 A=0.426 G=0.574
Genome-wide autozygosity in Daghestan Europe Sub 108 A=0.537 G=0.463
Genome-wide autozygosity in Daghestan South Asian Sub 96 A=0.49 G=0.51
Genome-wide autozygosity in Daghestan Caucasus Sub 36 A=0.61 G=0.39
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.544 G=0.456
Northern Sweden ACPOP Study-wide 600 A=0.537 G=0.463
SGDP_PRJ Global Study-wide 410 A=0.305 G=0.695
Qatari Global Study-wide 216 A=0.579 G=0.421
A Vietnamese Genetic Variation Database Global Study-wide 216 A=0.380 G=0.620
Siberian Global Study-wide 50 A=0.36 G=0.64
The Danish reference pan genome Danish Study-wide 40 A=0.62 G=0.38
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.154768187A>C
GRCh38.p14 chr 1 NC_000001.11:g.154768187A>G
GRCh38.p14 chr 1 NC_000001.11:g.154768187A>T
GRCh37.p13 chr 1 NC_000001.10:g.154740663A>C
GRCh37.p13 chr 1 NC_000001.10:g.154740663A>G
GRCh37.p13 chr 1 NC_000001.10:g.154740663A>T
KCNN3 RefSeqGene NG_016807.2:g.107092T>G
KCNN3 RefSeqGene NG_016807.2:g.107092T>C
KCNN3 RefSeqGene NG_016807.2:g.107092T>A
Gene: KCNN3, potassium calcium-activated channel subfamily N member 3 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
KCNN3 transcript variant 3 NM_001204087.2:c.1448+378…

NM_001204087.2:c.1448+3788T>G

 		N/A Intron Variant
KCNN3 transcript variant 4 NM_001365837.1:c.509+3788…

NM_001365837.1:c.509+3788T>G

 		N/A Intron Variant
KCNN3 transcript variant 5 NM_001365838.1:c.509+3788…

NM_001365838.1:c.509+3788T>G

 		N/A Intron Variant
KCNN3 transcript variant 1 NM_002249.6:c.1448+3788T>G N/A Intron Variant
KCNN3 transcript variant 2 NM_170782.3:c.533+3788T>G 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
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 G T
GRCh38.p14 chr 1 NC_000001.11:g.154768187= NC_000001.11:g.154768187A>C NC_000001.11:g.154768187A>G NC_000001.11:g.154768187A>T
GRCh37.p13 chr 1 NC_000001.10:g.154740663= NC_000001.10:g.154740663A>C NC_000001.10:g.154740663A>G NC_000001.10:g.154740663A>T
KCNN3 RefSeqGene NG_016807.2:g.107092= NG_016807.2:g.107092T>G NG_016807.2:g.107092T>C NG_016807.2:g.107092T>A
KCNN3 transcript variant 3 NM_001204087.1:c.1448+3788= NM_001204087.1:c.1448+3788T>G NM_001204087.1:c.1448+3788T>C NM_001204087.1:c.1448+3788T>A
KCNN3 transcript variant 3 NM_001204087.2:c.1448+3788= NM_001204087.2:c.1448+3788T>G NM_001204087.2:c.1448+3788T>C NM_001204087.2:c.1448+3788T>A
KCNN3 transcript variant 4 NM_001365837.1:c.509+3788= NM_001365837.1:c.509+3788T>G NM_001365837.1:c.509+3788T>C NM_001365837.1:c.509+3788T>A
KCNN3 transcript variant 5 NM_001365838.1:c.509+3788= NM_001365838.1:c.509+3788T>G NM_001365838.1:c.509+3788T>C NM_001365838.1:c.509+3788T>A
KCNN3 transcript variant 1 NM_002249.5:c.1448+3788= NM_002249.5:c.1448+3788T>G NM_002249.5:c.1448+3788T>C NM_002249.5:c.1448+3788T>A
KCNN3 transcript variant 1 NM_002249.6:c.1448+3788= NM_002249.6:c.1448+3788T>G NM_002249.6:c.1448+3788T>C NM_002249.6:c.1448+3788T>A
KCNN3 transcript variant 2 NM_170782.2:c.533+3788= NM_170782.2:c.533+3788T>G NM_170782.2:c.533+3788T>C NM_170782.2:c.533+3788T>A
KCNN3 transcript variant 2 NM_170782.3:c.533+3788= NM_170782.3:c.533+3788T>G NM_170782.3:c.533+3788T>C NM_170782.3:c.533+3788T>A
KCNN3 transcript variant X1 XM_005245143.1:c.509+3788= XM_005245143.1:c.509+3788T>G XM_005245143.1:c.509+3788T>C XM_005245143.1:c.509+3788T>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#.

75 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss19117192 Feb 27, 2004 (120)
2 CSHL-HAPMAP ss19845807 Feb 27, 2004 (120)
3 SSAHASNP ss20516161 Apr 05, 2004 (121)
4 ABI ss44015920 Mar 13, 2006 (126)
5 PERLEGEN ss46535656 Mar 13, 2006 (126)
6 HGSV ss82423035 Dec 14, 2007 (130)
7 HGSV ss82733563 Dec 14, 2007 (130)
8 BCMHGSC_JDW ss87825177 Mar 23, 2008 (129)
9 HUMANGENOME_JCVI ss99251279 Feb 04, 2009 (130)
10 BGI ss102785713 Dec 01, 2009 (131)
11 1000GENOMES ss108600487 Jan 23, 2009 (130)
12 ENSEMBL ss138083570 Dec 01, 2009 (131)
13 ENSEMBL ss139210281 Dec 01, 2009 (131)
14 COMPLETE_GENOMICS ss165222747 Jul 04, 2010 (132)
15 COMPLETE_GENOMICS ss167135498 Jul 04, 2010 (132)
16 BUSHMAN ss199087865 Jul 04, 2010 (132)
17 1000GENOMES ss218651888 Jul 14, 2010 (132)
18 1000GENOMES ss230732385 Jul 14, 2010 (132)
19 1000GENOMES ss238380199 Jul 15, 2010 (132)
20 GMI ss276051734 May 04, 2012 (137)
21 GMI ss284152901 Apr 25, 2013 (138)
22 PJP ss290637361 May 09, 2011 (134)
23 ILLUMINA ss536094030 Sep 08, 2015 (146)
24 TISHKOFF ss554694843 Apr 25, 2013 (138)
25 SSMP ss648414769 Apr 25, 2013 (138)
26 EVA-GONL ss975683780 Aug 21, 2014 (142)
27 JMKIDD_LAB ss1068270475 Aug 21, 2014 (142)
28 1000GENOMES ss1292930504 Aug 21, 2014 (142)
29 HAMMER_LAB ss1397260063 Sep 08, 2015 (146)
30 DDI ss1425979334 Apr 01, 2015 (144)
31 EVA_GENOME_DK ss1574392947 Apr 01, 2015 (144)
32 EVA_DECODE ss1585065288 Apr 01, 2015 (144)
33 EVA_UK10K_ALSPAC ss1601216621 Apr 01, 2015 (144)
34 EVA_UK10K_TWINSUK ss1644210654 Apr 01, 2015 (144)
35 HAMMER_LAB ss1795094290 Sep 08, 2015 (146)
36 WEILL_CORNELL_DGM ss1918917771 Feb 12, 2016 (147)
37 GENOMED ss1966867824 Jul 19, 2016 (147)
38 JJLAB ss2019974380 Sep 14, 2016 (149)
39 USC_VALOUEV ss2147998987 Dec 20, 2016 (150)
40 HUMAN_LONGEVITY ss2166551865 Dec 20, 2016 (150)
41 SYSTEMSBIOZJU ss2624495233 Nov 08, 2017 (151)
42 GRF ss2697971933 Nov 08, 2017 (151)
43 GNOMAD ss2761330598 Nov 08, 2017 (151)
44 AFFY ss2984879365 Nov 08, 2017 (151)
45 SWEGEN ss2987754122 Nov 08, 2017 (151)
46 BIOINF_KMB_FNS_UNIBA ss3023744397 Nov 08, 2017 (151)
47 CSHL ss3343711149 Nov 08, 2017 (151)
48 ILLUMINA ss3626208745 Oct 11, 2018 (152)
49 URBANLAB ss3646791693 Oct 11, 2018 (152)
50 ILLUMINA ss3653648558 Oct 11, 2018 (152)
51 EGCUT_WGS ss3655694404 Jul 12, 2019 (153)
52 EVA_DECODE ss3687785049 Jul 12, 2019 (153)
53 ACPOP ss3727486761 Jul 12, 2019 (153)
54 EVA ss3746809597 Jul 12, 2019 (153)
55 PACBIO ss3783566731 Jul 12, 2019 (153)
56 PACBIO ss3789198232 Jul 12, 2019 (153)
57 PACBIO ss3794070240 Jul 12, 2019 (153)
58 KHV_HUMAN_GENOMES ss3799811172 Jul 12, 2019 (153)
59 EVA ss3826424795 Apr 25, 2020 (154)
60 SGDP_PRJ ss3850009105 Apr 25, 2020 (154)
61 KRGDB ss3895216079 Apr 25, 2020 (154)
62 KOGIC ss3945654012 Apr 25, 2020 (154)
63 TOPMED ss4468347271 Apr 25, 2021 (155)
64 TOMMO_GENOMICS ss5146489352 Apr 25, 2021 (155)
65 1000G_HIGH_COVERAGE ss5244297422 Oct 12, 2022 (156)
66 EVA ss5322057692 Oct 12, 2022 (156)
67 HUGCELL_USP ss5444890409 Oct 12, 2022 (156)
68 1000G_HIGH_COVERAGE ss5517627724 Oct 12, 2022 (156)
69 SANFORD_IMAGENETICS ss5626593840 Oct 12, 2022 (156)
70 TOMMO_GENOMICS ss5673686984 Oct 12, 2022 (156)
71 YY_MCH ss5801261254 Oct 12, 2022 (156)
72 EVA ss5832667176 Oct 12, 2022 (156)
73 EVA ss5849109414 Oct 12, 2022 (156)
74 EVA ss5910250668 Oct 12, 2022 (156)
75 EVA ss5938387735 Oct 12, 2022 (156)
76 1000Genomes NC_000001.10 - 154740663 Oct 11, 2018 (152)
77 1000Genomes_30x NC_000001.11 - 154768187 Oct 12, 2022 (156)
78 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 154740663 Oct 11, 2018 (152)
79 Genome-wide autozygosity in Daghestan NC_000001.9 - 153007287 Apr 25, 2020 (154)
80 Genetic variation in the Estonian population NC_000001.10 - 154740663 Oct 11, 2018 (152)
81 The Danish reference pan genome NC_000001.10 - 154740663 Apr 25, 2020 (154)
82 gnomAD - Genomes NC_000001.11 - 154768187 Apr 25, 2021 (155)
83 Genome of the Netherlands Release 5 NC_000001.10 - 154740663 Apr 25, 2020 (154)
84 KOREAN population from KRGDB NC_000001.10 - 154740663 Apr 25, 2020 (154)
85 Korean Genome Project NC_000001.11 - 154768187 Apr 25, 2020 (154)
86 Northern Sweden NC_000001.10 - 154740663 Jul 12, 2019 (153)
87 Qatari NC_000001.10 - 154740663 Apr 25, 2020 (154)
88 SGDP_PRJ NC_000001.10 - 154740663 Apr 25, 2020 (154)
89 Siberian NC_000001.10 - 154740663 Apr 25, 2020 (154)
90 8.3KJPN NC_000001.10 - 154740663 Apr 25, 2021 (155)
91 14KJPN NC_000001.11 - 154768187 Oct 12, 2022 (156)
92 TopMed NC_000001.11 - 154768187 Apr 25, 2021 (155)
93 UK 10K study - Twins NC_000001.10 - 154740663 Oct 11, 2018 (152)
94 A Vietnamese Genetic Variation Database NC_000001.10 - 154740663 Jul 12, 2019 (153)
95 ALFA NC_000001.11 - 154768187 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)
rs57862887 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2166551865 NC_000001.11:154768186:A:C NC_000001.11:154768186:A:C (self)
ss82423035, ss82733563 NC_000001.8:151553735:A:G NC_000001.11:154768186:A:G (self)
21321, ss87825177, ss108600487, ss165222747, ss167135498, ss199087865, ss276051734, ss284152901, ss290637361, ss1397260063, ss1585065288 NC_000001.9:153007286:A:G NC_000001.11:154768186:A:G (self)
3722767, 2024182, 1432652, 1709127, 879373, 2393473, 771626, 959701, 2026085, 515341, 4458659, 2024182, 434964, ss218651888, ss230732385, ss238380199, ss536094030, ss554694843, ss648414769, ss975683780, ss1068270475, ss1292930504, ss1425979334, ss1574392947, ss1601216621, ss1644210654, ss1795094290, ss1918917771, ss1966867824, ss2019974380, ss2147998987, ss2624495233, ss2697971933, ss2761330598, ss2984879365, ss2987754122, ss3343711149, ss3626208745, ss3653648558, ss3655694404, ss3727486761, ss3746809597, ss3783566731, ss3789198232, ss3794070240, ss3826424795, ss3850009105, ss3895216079, ss5146489352, ss5322057692, ss5626593840, ss5832667176, ss5938387735 NC_000001.10:154740662:A:G NC_000001.11:154768186:A:G (self)
5153659, 27088795, 2032013, 7524088, 31953606, 3692340903, ss2166551865, ss3023744397, ss3646791693, ss3687785049, ss3799811172, ss3945654012, ss4468347271, ss5244297422, ss5444890409, ss5517627724, ss5673686984, ss5801261254, ss5849109414, ss5910250668 NC_000001.11:154768186:A:G NC_000001.11:154768186:A:G (self)
ss44015920, ss46535656, ss99251279, ss102785713, ss138083570, ss139210281 NT_004487.19:6229304:A:G NC_000001.11:154768186:A:G (self)
ss19117192, ss19845807, ss20516161 NT_079484.1:1190494:A:G NC_000001.11:154768186:A:G (self)
3692340903 NC_000001.11:154768186:A:T NC_000001.11:154768186:A: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 rs11264257

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