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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.

rs11911509

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr21:34469442 (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
C>A / C>G
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.412033 (95984/232952, ALFA)
A=0.33473 (5610/16760, 8.3KJPN)
A=0.3682 (1844/5008, 1000G) (+ 13 more)
A=0.4004 (1794/4480, Estonian)
A=0.4307 (1660/3854, ALSPAC)
A=0.4169 (1546/3708, TWINSUK)
A=0.2833 (830/2930, KOREAN)
A=0.3771 (712/1888, HapMap)
A=0.458 (457/998, GoNL)
A=0.243 (192/790, PRJEB37584)
A=0.321 (201/626, Chileans)
A=0.428 (257/600, NorthernSweden)
C=0.363 (111/306, SGDP_PRJ)
A=0.380 (82/216, Qatari)
A=0.218 (47/216, Vietnamese)
C=0.47 (17/36, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
KCNE1 : Intron Variant
Publications
1 citation
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 21 NC_000021.9:g.34469442C>A
GRCh38.p13 chr 21 NC_000021.9:g.34469442C>G
GRCh37.p13 chr 21 NC_000021.8:g.35841740C>A
GRCh37.p13 chr 21 NC_000021.8:g.35841740C>G
KCNE1 RefSeqGene (LRG_290) NG_009091.1:g.46874G>T
KCNE1 RefSeqGene (LRG_290) NG_009091.1:g.46874G>C
Gene: KCNE1, potassium voltage-gated channel subfamily E regulatory subunit 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
KCNE1 transcript variant 2 NM_000219.6:c.-161-10678G…

NM_000219.6:c.-161-10678G>T

N/A Intron Variant
KCNE1 transcript variant 5 NM_001270402.3:c.-161-106…

NM_001270402.3:c.-161-10678G>T

N/A Intron Variant
KCNE1 transcript variant 6 NM_001270403.2:c.-133-107…

NM_001270403.2:c.-133-10706G>T

N/A Intron Variant
KCNE1 transcript variant 7 NM_001270404.3:c.-50-1975…

NM_001270404.3:c.-50-19758G>T

N/A Intron Variant
KCNE1 transcript variant 3 NM_001127668.4:c. N/A Genic Upstream Transcript Variant
KCNE1 transcript variant 4 NM_001127669.4:c. N/A Genic Upstream Transcript Variant
KCNE1 transcript variant 1 NM_001127670.4:c. N/A Genic Upstream Transcript Variant
KCNE1 transcript variant 8 NM_001270405.3: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
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 232952 C=0.587967 A=0.412033
European Sub 205542 C=0.579770 A=0.420230
African Sub 6678 C=0.6288 A=0.3712
African Others Sub 242 C=0.583 A=0.417
African American Sub 6436 C=0.6305 A=0.3695
Asian Sub 3774 C=0.7562 A=0.2438
East Asian Sub 3038 C=0.7354 A=0.2646
Other Asian Sub 736 C=0.842 A=0.158
Latin American 1 Sub 986 C=0.583 A=0.417
Latin American 2 Sub 7232 C=0.6645 A=0.3355
South Asian Sub 278 C=0.572 A=0.428
Other Sub 8462 C=0.6155 A=0.3845


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
8.3KJPN JAPANESE Study-wide 16760 C=0.66527 A=0.33473
1000Genomes Global Study-wide 5008 C=0.6318 A=0.3682
1000Genomes African Sub 1322 C=0.6452 A=0.3548
1000Genomes East Asian Sub 1008 C=0.7560 A=0.2440
1000Genomes Europe Sub 1006 C=0.5577 A=0.4423
1000Genomes South Asian Sub 978 C=0.551 A=0.449
1000Genomes American Sub 694 C=0.647 A=0.353
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.5996 A=0.4004
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.5693 A=0.4307
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.5831 A=0.4169
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.7167 A=0.2833, G=0.0000
HapMap Global Study-wide 1888 C=0.6229 A=0.3771
HapMap American Sub 768 C=0.611 A=0.389
HapMap African Sub 692 C=0.610 A=0.390
HapMap Asian Sub 254 C=0.701 A=0.299
HapMap Europe Sub 174 C=0.615 A=0.385
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.542 A=0.458
CNV burdens in cranial meningiomas Global Study-wide 790 C=0.757 A=0.243
CNV burdens in cranial meningiomas CRM Sub 790 C=0.757 A=0.243
Chileans Chilean Study-wide 626 C=0.679 A=0.321
Northern Sweden ACPOP Study-wide 600 C=0.572 A=0.428
SGDP_PRJ Global Study-wide 306 C=0.363 A=0.637
Qatari Global Study-wide 216 C=0.620 A=0.380
A Vietnamese Genetic Variation Database Global Study-wide 216 C=0.782 A=0.218
Siberian Global Study-wide 36 C=0.47 A=0.53
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 G
GRCh38.p13 chr 21 NC_000021.9:g.34469442= NC_000021.9:g.34469442C>A NC_000021.9:g.34469442C>G
GRCh37.p13 chr 21 NC_000021.8:g.35841740= NC_000021.8:g.35841740C>A NC_000021.8:g.35841740C>G
KCNE1 RefSeqGene (LRG_290) NG_009091.1:g.46874= NG_009091.1:g.46874G>T NG_009091.1:g.46874G>C
KCNE1 transcript variant 2 NM_000219.4:c.-161-10678= NM_000219.4:c.-161-10678G>T NM_000219.4:c.-161-10678G>C
KCNE1 transcript variant 2 NM_000219.6:c.-161-10678= NM_000219.6:c.-161-10678G>T NM_000219.6:c.-161-10678G>C
KCNE1 transcript variant 5 NM_001270402.1:c.-161-10678= NM_001270402.1:c.-161-10678G>T NM_001270402.1:c.-161-10678G>C
KCNE1 transcript variant 5 NM_001270402.3:c.-161-10678= NM_001270402.3:c.-161-10678G>T NM_001270402.3:c.-161-10678G>C
KCNE1 transcript variant 6 NM_001270403.1:c.-133-10706= NM_001270403.1:c.-133-10706G>T NM_001270403.1:c.-133-10706G>C
KCNE1 transcript variant 6 NM_001270403.2:c.-133-10706= NM_001270403.2:c.-133-10706G>T NM_001270403.2:c.-133-10706G>C
KCNE1 transcript variant 7 NM_001270404.1:c.-50-19758= NM_001270404.1:c.-50-19758G>T NM_001270404.1:c.-50-19758G>C
KCNE1 transcript variant 7 NM_001270404.3:c.-50-19758= NM_001270404.3:c.-50-19758G>T NM_001270404.3:c.-50-19758G>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#.

86 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss17712222 Sep 28, 2016 (149)
2 ABI ss41448892 Mar 13, 2006 (126)
3 AFFY ss76568550 Dec 06, 2007 (131)
4 HGSV ss85245991 Dec 15, 2007 (130)
5 BCMHGSC_JDW ss91828425 Mar 24, 2008 (129)
6 KRIBB_YJKIM ss105040185 Feb 05, 2009 (130)
7 1000GENOMES ss112447416 Feb 14, 2009 (130)
8 1000GENOMES ss113850592 Jan 25, 2009 (130)
9 ILLUMINA-UK ss117514620 Dec 01, 2009 (131)
10 ENSEMBL ss138311809 Dec 01, 2009 (131)
11 COMPLETE_GENOMICS ss167958334 Jul 04, 2010 (132)
12 COMPLETE_GENOMICS ss169398061 Jul 04, 2010 (132)
13 BUSHMAN ss204008592 Jul 04, 2010 (132)
14 1000GENOMES ss228549139 Jul 14, 2010 (132)
15 1000GENOMES ss237971115 Jul 15, 2010 (132)
16 1000GENOMES ss244112077 Jul 15, 2010 (132)
17 GMI ss283531479 May 04, 2012 (137)
18 GMI ss287526050 Apr 25, 2013 (138)
19 PJP ss292705223 May 09, 2011 (134)
20 ILLUMINA ss479626196 May 04, 2012 (142)
21 ILLUMINA ss479631435 May 04, 2012 (142)
22 ILLUMINA ss480131905 Sep 08, 2015 (146)
23 ILLUMINA ss484611831 May 04, 2012 (142)
24 ILLUMINA ss536736335 Sep 08, 2015 (146)
25 TISHKOFF ss566478238 Apr 25, 2013 (138)
26 SSMP ss662388230 Apr 25, 2013 (138)
27 ILLUMINA ss778769464 Sep 08, 2015 (146)
28 ILLUMINA ss782752729 Sep 08, 2015 (146)
29 ILLUMINA ss783719343 Sep 08, 2015 (146)
30 ILLUMINA ss832004875 Sep 08, 2015 (146)
31 ILLUMINA ss834229295 Sep 08, 2015 (146)
32 EVA-GONL ss995091022 Aug 21, 2014 (142)
33 JMKIDD_LAB ss1082478875 Aug 21, 2014 (142)
34 1000GENOMES ss1366192066 Aug 21, 2014 (142)
35 DDI ss1429176119 Apr 01, 2015 (144)
36 EVA_UK10K_ALSPAC ss1639507609 Apr 01, 2015 (144)
37 EVA_UK10K_TWINSUK ss1682501642 Apr 01, 2015 (144)
38 EVA_DECODE ss1699161025 Apr 01, 2015 (144)
39 EVA_SVP ss1713721146 Apr 01, 2015 (144)
40 ILLUMINA ss1752406601 Sep 08, 2015 (146)
41 HAMMER_LAB ss1809673649 Sep 08, 2015 (146)
42 WEILL_CORNELL_DGM ss1938641751 Feb 12, 2016 (147)
43 ILLUMINA ss1946564100 Feb 12, 2016 (147)
44 ILLUMINA ss1959950713 Feb 12, 2016 (147)
45 JJLAB ss2030092299 Sep 14, 2016 (149)
46 USC_VALOUEV ss2158696725 Dec 20, 2016 (150)
47 TOPMED ss2412251944 Dec 20, 2016 (150)
48 SYSTEMSBIOZJU ss2629545019 Nov 08, 2017 (151)
49 ILLUMINA ss2633844999 Nov 08, 2017 (151)
50 GRF ss2704426780 Nov 08, 2017 (151)
51 ILLUMINA ss2710949684 Nov 08, 2017 (151)
52 SWEGEN ss3018851737 Nov 08, 2017 (151)
53 ILLUMINA ss3022156752 Nov 08, 2017 (151)
54 CSHL ss3352706446 Nov 08, 2017 (151)
55 ILLUMINA ss3625796175 Oct 12, 2018 (152)
56 ILLUMINA ss3628474382 Oct 12, 2018 (152)
57 ILLUMINA ss3631798737 Oct 12, 2018 (152)
58 ILLUMINA ss3633264108 Oct 12, 2018 (152)
59 ILLUMINA ss3633979024 Oct 12, 2018 (152)
60 ILLUMINA ss3634853468 Oct 12, 2018 (152)
61 ILLUMINA ss3635663780 Oct 12, 2018 (152)
62 ILLUMINA ss3636549258 Oct 12, 2018 (152)
63 ILLUMINA ss3637415940 Oct 12, 2018 (152)
64 ILLUMINA ss3640560767 Oct 12, 2018 (152)
65 ILLUMINA ss3641133676 Oct 12, 2018 (152)
66 ILLUMINA ss3641430008 Oct 12, 2018 (152)
67 ILLUMINA ss3644791909 Oct 12, 2018 (152)
68 ILLUMINA ss3652616120 Oct 12, 2018 (152)
69 EGCUT_WGS ss3685427935 Jul 13, 2019 (153)
70 ACPOP ss3743709250 Jul 13, 2019 (153)
71 ILLUMINA ss3744202949 Jul 13, 2019 (153)
72 ILLUMINA ss3745153327 Jul 13, 2019 (153)
73 EVA ss3759077118 Jul 13, 2019 (153)
74 ILLUMINA ss3772649393 Jul 13, 2019 (153)
75 PACBIO ss3788755056 Jul 13, 2019 (153)
76 PACBIO ss3793630178 Jul 13, 2019 (153)
77 PACBIO ss3798516376 Jul 13, 2019 (153)
78 KHV_HUMAN_GENOMES ss3822244012 Jul 13, 2019 (153)
79 EVA ss3835860717 Apr 27, 2020 (154)
80 EVA ss3841557320 Apr 27, 2020 (154)
81 SGDP_PRJ ss3889950848 Apr 27, 2020 (154)
82 KRGDB ss3940307800 Apr 27, 2020 (154)
83 EVA ss3984755879 Apr 26, 2021 (155)
84 EVA ss4017866713 Apr 26, 2021 (155)
85 TOMMO_GENOMICS ss5231425744 Apr 26, 2021 (155)
86 EVA ss5237612341 Apr 26, 2021 (155)
87 1000Genomes NC_000021.8 - 35841740 Oct 12, 2018 (152)
88 The Avon Longitudinal Study of Parents and Children NC_000021.8 - 35841740 Oct 12, 2018 (152)
89 Chileans NC_000021.8 - 35841740 Apr 27, 2020 (154)
90 Genetic variation in the Estonian population NC_000021.8 - 35841740 Oct 12, 2018 (152)
91 Genome of the Netherlands Release 5 NC_000021.8 - 35841740 Apr 27, 2020 (154)
92 HapMap NC_000021.9 - 34469442 Apr 27, 2020 (154)
93 KOREAN population from KRGDB NC_000021.8 - 35841740 Apr 27, 2020 (154)
94 Northern Sweden NC_000021.8 - 35841740 Jul 13, 2019 (153)
95 CNV burdens in cranial meningiomas NC_000021.8 - 35841740 Apr 26, 2021 (155)
96 Qatari NC_000021.8 - 35841740 Apr 27, 2020 (154)
97 SGDP_PRJ NC_000021.8 - 35841740 Apr 27, 2020 (154)
98 Siberian NC_000021.8 - 35841740 Apr 27, 2020 (154)
99 8.3KJPN NC_000021.8 - 35841740 Apr 26, 2021 (155)
100 UK 10K study - Twins NC_000021.8 - 35841740 Oct 12, 2018 (152)
101 A Vietnamese Genetic Variation Database NC_000021.8 - 35841740 Jul 13, 2019 (153)
102 ALFA NC_000021.9 - 34469442 Apr 26, 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)
rs55839924 Dec 02, 2009 (131)
rs59249356 May 25, 2008 (130)
rs75453140 Aug 21, 2014 (142)
rs200704982 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss76568550, ss85245991, ss91828425, ss112447416, ss113850592, ss117514620, ss167958334, ss169398061, ss204008592, ss283531479, ss287526050, ss292705223, ss479626196, ss1699161025, ss1713721146 NC_000021.7:34763609:C:A NC_000021.9:34469441:C:A (self)
79708124, 44109622, 265083, 31166183, 19649606, 47485194, 16994115, 305458, 20683673, 41967828, 11213079, 89395051, 44109622, 9733272, ss228549139, ss237971115, ss244112077, ss479631435, ss480131905, ss484611831, ss536736335, ss566478238, ss662388230, ss778769464, ss782752729, ss783719343, ss832004875, ss834229295, ss995091022, ss1082478875, ss1366192066, ss1429176119, ss1639507609, ss1682501642, ss1752406601, ss1809673649, ss1938641751, ss1946564100, ss1959950713, ss2030092299, ss2158696725, ss2412251944, ss2629545019, ss2633844999, ss2704426780, ss2710949684, ss3018851737, ss3022156752, ss3352706446, ss3625796175, ss3628474382, ss3631798737, ss3633264108, ss3633979024, ss3634853468, ss3635663780, ss3636549258, ss3637415940, ss3640560767, ss3641133676, ss3641430008, ss3644791909, ss3652616120, ss3685427935, ss3743709250, ss3744202949, ss3745153327, ss3759077118, ss3772649393, ss3788755056, ss3793630178, ss3798516376, ss3835860717, ss3841557320, ss3889950848, ss3940307800, ss3984755879, ss4017866713, ss5231425744, ss5237612341 NC_000021.8:35841739:C:A NC_000021.9:34469441:C:A (self)
2204095, 6242334517, ss3822244012 NC_000021.9:34469441:C:A NC_000021.9:34469441:C:A (self)
ss17712222 NT_011512.9:21502135:C:A NC_000021.9:34469441:C:A (self)
ss41448892, ss105040185, ss138311809 NT_011512.11:21503610:C:A NC_000021.9:34469441:C:A (self)
47485194, ss3940307800 NC_000021.8:35841739:C:G NC_000021.9:34469441:C:G (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs11911509
PMID Title Author Year Journal
30086202 QT length during methadone maintenance treatment: gene × dose interaction. Zerdazi EH et al. 2019 Fundamental & clinical pharmacology
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