Name: rs36107257
Published: September 21, 2022
License: Open Access

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.

rs36107257

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:62781582 (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: G>A / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.082595 (21862/264690, TOPMED)
A=0.07545 (2132/28258, 14KJPN)
A=0.07440 (1247/16760, 8.3KJPN) (+ 15 more)
A=0.02277 (375/16470, ALFA)
A=0.0650 (416/6404, 1000G_30x)
A=0.0667 (334/5008, 1000G)
A=0.0763 (342/4480, Estonian)
A=0.1251 (482/3854, ALSPAC)
A=0.1154 (428/3708, TWINSUK)
A=0.0835 (244/2922, KOREAN)
A=0.126 (126/998, GoNL)
A=0.088 (53/600, NorthernSweden)
A=0.023 (5/216, Qatari)
A=0.066 (14/212, Vietnamese)
G=0.45 (36/80, SGDP_PRJ)
A=0.12 (5/40, GENOME_DK)
G=0.5 (2/4, Siberian)
A=0.5 (2/4, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: KCNH5 : 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	16470	G=0.97723	A=0.02277, T=0.00000
European	Sub	12276	G=0.97133	A=0.02867, T=0.00000
African	Sub	2752	G=0.9989	A=0.0011, T=0.0000
African Others	Sub	110	G=1.000	A=0.000, T=0.000
African American	Sub	2642	G=0.9989	A=0.0011, T=0.0000
Asian	Sub	102	G=1.000	A=0.000, T=0.000
East Asian	Sub	76	G=1.00	A=0.00, T=0.00
Other Asian	Sub	26	G=1.00	A=0.00, T=0.00
Latin American 1	Sub	132	G=1.000	A=0.000, T=0.000
Latin American 2	Sub	494	G=1.000	A=0.000, T=0.000
South Asian	Sub	92	G=1.00	A=0.00, T=0.00
Other	Sub	622	G=0.968	A=0.032, T=0.000

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	G=0.917405	A=0.082595
14KJPN	JAPANESE	Study-wide	28258	G=0.92455	A=0.07545
8.3KJPN	JAPANESE	Study-wide	16760	G=0.92560	A=0.07440
Allele Frequency Aggregator	Total	Global	16470	G=0.97723	A=0.02277, T=0.00000
Allele Frequency Aggregator	European	Sub	12276	G=0.97133	A=0.02867, T=0.00000
Allele Frequency Aggregator	African	Sub	2752	G=0.9989	A=0.0011, T=0.0000
Allele Frequency Aggregator	Other	Sub	622	G=0.968	A=0.032, T=0.000
Allele Frequency Aggregator	Latin American 2	Sub	494	G=1.000	A=0.000, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	132	G=1.000	A=0.000, T=0.000
Allele Frequency Aggregator	Asian	Sub	102	G=1.000	A=0.000, T=0.000
Allele Frequency Aggregator	South Asian	Sub	92	G=1.00	A=0.00, T=0.00
1000Genomes_30x	Global	Study-wide	6404	G=0.9350	A=0.0650
1000Genomes_30x	African	Sub	1786	G=0.9737	A=0.0263
1000Genomes_30x	Europe	Sub	1266	G=0.9163	A=0.0837
1000Genomes_30x	South Asian	Sub	1202	G=0.9276	A=0.0724
1000Genomes_30x	East Asian	Sub	1170	G=0.9179	A=0.0821
1000Genomes_30x	American	Sub	980	G=0.918	A=0.082
1000Genomes	Global	Study-wide	5008	G=0.9333	A=0.0667
1000Genomes	African	Sub	1322	G=0.9713	A=0.0287
1000Genomes	East Asian	Sub	1008	G=0.9196	A=0.0804
1000Genomes	Europe	Sub	1006	G=0.9155	A=0.0845
1000Genomes	South Asian	Sub	978	G=0.927	A=0.073
1000Genomes	American	Sub	694	G=0.915	A=0.085
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.9237	A=0.0763
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.8749	A=0.1251
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.8846	A=0.1154
KOREAN population from KRGDB	KOREAN	Study-wide	2922	G=0.9165	A=0.0835
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.874	A=0.126
Northern Sweden	ACPOP	Study-wide	600	G=0.912	A=0.088
Qatari	Global	Study-wide	216	G=0.977	A=0.023
A Vietnamese Genetic Variation Database	Global	Study-wide	212	G=0.934	A=0.066
SGDP_PRJ	Global	Study-wide	80	G=0.45	A=0.55
The Danish reference pan genome	Danish	Study-wide	40	G=0.88	A=0.12
Siberian	Global	Study-wide	4	G=0.5	A=0.5

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 14	NC_000014.9:g.62781582G>A
GRCh38.p14 chr 14	NC_000014.9:g.62781582G>T
GRCh37.p13 chr 14	NC_000014.8:g.63248300G>A
GRCh37.p13 chr 14	NC_000014.8:g.63248300G>T
KCNH5 RefSeqGene	NG_034062.1:g.268657C>T
KCNH5 RefSeqGene	NG_034062.1:g.268657C>A

Gene: KCNH5, potassium voltage-gated channel subfamily H member 5 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
KCNH5 transcript variant 1	NM_139318.5:c.1823-1658C>T	N/A	Intron Variant
KCNH5 transcript variant 3	NM_172375.3:c.1822+20747C… NM_172375.3:c.1822+20747C>T	N/A	Intron Variant
KCNH5 transcript variant X1	XM_047431275.1:c.1807-165… XM_047431275.1:c.1807-1658C>T	N/A	Intron Variant

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

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	G=	A	T
GRCh38.p14 chr 14	NC_000014.9:g.62781582=	NC_000014.9:g.62781582G>A	NC_000014.9:g.62781582G>T
GRCh37.p13 chr 14	NC_000014.8:g.63248300=	NC_000014.8:g.63248300G>A	NC_000014.8:g.63248300G>T
KCNH5 RefSeqGene	NG_034062.1:g.268657=	NG_034062.1:g.268657C>T	NG_034062.1:g.268657C>A
KCNH5 transcript variant 1	NM_139318.4:c.1823-1658=	NM_139318.4:c.1823-1658C>T	NM_139318.4:c.1823-1658C>A
KCNH5 transcript variant 1	NM_139318.5:c.1823-1658=	NM_139318.5:c.1823-1658C>T	NM_139318.5:c.1823-1658C>A
KCNH5 transcript variant 3	NM_172375.2:c.1822+20747=	NM_172375.2:c.1822+20747C>T	NM_172375.2:c.1822+20747C>A
KCNH5 transcript variant 3	NM_172375.3:c.1822+20747=	NM_172375.3:c.1822+20747C>T	NM_172375.3:c.1822+20747C>A
KCNH5 transcript variant X1	XM_047431275.1:c.1807-1658=	XM_047431275.1:c.1807-1658C>T	XM_047431275.1:c.1807-1658C>A

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#.

50 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40462490	Mar 15, 2006 (126)
2	HGSV	ss78623019	Dec 07, 2007 (129)
3	BCMHGSC_JDW	ss89973567	Mar 24, 2008 (130)
4	HUMANGENOME_JCVI	ss96923809	Feb 03, 2009 (130)
5	ENSEMBL	ss134014064	Dec 01, 2009 (131)
6	ENSEMBL	ss137016827	Dec 01, 2009 (131)
7	BL	ss255046272	May 09, 2011 (134)
8	GMI	ss282033868	May 04, 2012 (137)
9	PJP	ss291616262	May 09, 2011 (134)
10	1000GENOMES	ss338395456	May 09, 2011 (134)
11	SSMP	ss659823681	Apr 25, 2013 (138)
12	EVA-GONL	ss991227252	Aug 21, 2014 (142)
13	JMKIDD_LAB	ss1079717517	Aug 21, 2014 (142)
14	1000GENOMES	ss1351315087	Aug 21, 2014 (142)
15	EVA_GENOME_DK	ss1577303935	Apr 01, 2015 (144)
16	EVA_UK10K_ALSPAC	ss1631899901	Apr 01, 2015 (144)
17	EVA_UK10K_TWINSUK	ss1674893934	Apr 01, 2015 (144)
18	EVA_DECODE	ss1695230268	Apr 01, 2015 (144)
19	WEILL_CORNELL_DGM	ss1934602008	Feb 12, 2016 (147)
20	JJLAB	ss2028080181	Sep 14, 2016 (149)
21	USC_VALOUEV	ss2156456233	Dec 20, 2016 (150)
22	HUMAN_LONGEVITY	ss2202623530	Dec 20, 2016 (150)
23	SYSTEMSBIOZJU	ss2628530977	Nov 08, 2017 (151)
24	GRF	ss2700883424	Nov 08, 2017 (151)
25	GNOMAD	ss2928578578	Nov 08, 2017 (151)
26	SWEGEN	ss3012326406	Nov 08, 2017 (151)
27	CSHL	ss3350843209	Nov 08, 2017 (151)
28	URBANLAB	ss3650225116	Oct 12, 2018 (152)
29	EGCUT_WGS	ss3679580203	Jul 13, 2019 (153)
30	EVA_DECODE	ss3696831346	Jul 13, 2019 (153)
31	ACPOP	ss3740449476	Jul 13, 2019 (153)
32	EVA	ss3752417017	Jul 13, 2019 (153)
33	KHV_HUMAN_GENOMES	ss3817749600	Jul 13, 2019 (153)
34	EVA	ss3833959464	Apr 27, 2020 (154)
35	EVA	ss3840574143	Apr 27, 2020 (154)
36	EVA	ss3846063441	Apr 27, 2020 (154)
37	SGDP_PRJ	ss3881670447	Apr 27, 2020 (154)
38	KRGDB	ss3930698912	Apr 27, 2020 (154)
39	TOPMED	ss4973351612	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5213580057	Apr 26, 2021 (155)
41	1000G_HIGH_COVERAGE	ss5296494149	Oct 16, 2022 (156)
42	EVA	ss5415760366	Oct 16, 2022 (156)
43	HUGCELL_USP	ss5490509889	Oct 16, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5596916102	Oct 16, 2022 (156)
45	SANFORD_IMAGENETICS	ss5656375828	Oct 16, 2022 (156)
46	TOMMO_GENOMICS	ss5766482152	Oct 16, 2022 (156)
47	YY_MCH	ss5814820071	Oct 16, 2022 (156)
48	EVA	ss5841214577	Oct 16, 2022 (156)
49	EVA	ss5901652588	Oct 16, 2022 (156)
50	EVA	ss5947813917	Oct 16, 2022 (156)
51	1000Genomes	NC_000014.8 - 63248300	Oct 12, 2018 (152)
52	1000Genomes_30x	NC_000014.9 - 62781582	Oct 16, 2022 (156)
53	The Avon Longitudinal Study of Parents and Children	NC_000014.8 - 63248300	Oct 12, 2018 (152)
54	Genetic variation in the Estonian population	NC_000014.8 - 63248300	Oct 12, 2018 (152)
55	The Danish reference pan genome	NC_000014.8 - 63248300	Apr 27, 2020 (154)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 453426252 (NC_000014.9:62781581:G:A 11270/140132) Row 453426253 (NC_000014.9:62781581:G:T 1/140154)	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 453426252 (NC_000014.9:62781581:G:A 11270/140132) Row 453426253 (NC_000014.9:62781581:G:T 1/140154)	-	Apr 26, 2021 (155)
58	Genome of the Netherlands Release 5	NC_000014.8 - 63248300	Apr 27, 2020 (154)
59	KOREAN population from KRGDB	NC_000014.8 - 63248300	Apr 27, 2020 (154)
60	Northern Sweden	NC_000014.8 - 63248300	Jul 13, 2019 (153)
61	Qatari	NC_000014.8 - 63248300	Apr 27, 2020 (154)
62	SGDP_PRJ	NC_000014.8 - 63248300	Apr 27, 2020 (154)
63	Siberian	NC_000014.8 - 63248300	Apr 27, 2020 (154)
64	8.3KJPN	NC_000014.8 - 63248300	Apr 26, 2021 (155)
65	14KJPN	NC_000014.9 - 62781582	Oct 16, 2022 (156)
66	TopMed	NC_000014.9 - 62781582	Apr 26, 2021 (155)
67	UK 10K study - Twins	NC_000014.8 - 63248300	Oct 12, 2018 (152)
68	A Vietnamese Genetic Variation Database	NC_000014.8 - 63248300	Jul 13, 2019 (153)
69	ALFA	NC_000014.9 - 62781582	Apr 26, 2021 (155)

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)
rs61994852	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss78623019, ss89973567, ss255046272, ss282033868, ss291616262, ss1695230268	NC_000014.7:62318052:G:A	NC_000014.9:62781581:G:A	(self)
64307390, 35725116, 25318451, 3635967, 15956315, 37876306, 13734341, 16643938, 33687427, 8972587, 71549364, 35725116, 7948865, ss338395456, ss659823681, ss991227252, ss1079717517, ss1351315087, ss1577303935, ss1631899901, ss1674893934, ss1934602008, ss2028080181, ss2156456233, ss2628530977, ss2700883424, ss2928578578, ss3012326406, ss3350843209, ss3679580203, ss3740449476, ss3752417017, ss3833959464, ss3840574143, ss3881670447, ss3930698912, ss5213580057, ss5415760366, ss5656375828, ss5841214577, ss5947813917	NC_000014.8:63248299:G:A	NC_000014.9:62781581:G:A	(self)
84442037, 100319256, 188897271, 3058608503, ss2202623530, ss3650225116, ss3696831346, ss3817749600, ss3846063441, ss4973351612, ss5296494149, ss5490509889, ss5596916102, ss5766482152, ss5814820071, ss5901652588	NC_000014.9:62781581:G:A	NC_000014.9:62781581:G:A	(self)
ss40462490, ss96923809, ss134014064, ss137016827	NT_026437.12:44248299:G:A	NC_000014.9:62781581:G:A	(self)
3058608503	NC_000014.9:62781581:G:T	NC_000014.9:62781581:G:T	(self)

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

No publications for rs36107257

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs36107257