Name: rs1805123
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.

rs1805123

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:150948446 (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 / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.221147 (72786/329130, ALFA)
G=0.154660 (40937/264690, TOPMED)
G=0.187149 (21515/114962, ExAC) (+ 21 more)
G=0.203000 (22343/110064, GnomAD)
G=0.09101 (7162/78692, PAGE_STUDY)
G=0.03957 (1118/28254, 14KJPN)
G=0.03987 (668/16756, 8.3KJPN)
G=0.16908 (2199/13006, GO-ESP)
G=0.1321 (846/6404, 1000G_30x)
G=0.1362 (682/5008, 1000G)
G=0.1598 (716/4480, Estonian)
G=0.2421 (933/3854, ALSPAC)
G=0.2473 (917/3708, TWINSUK)
G=0.0489 (142/2902, KOREAN)
G=0.1124 (200/1780, HapMap)
G=0.044 (35/792, PRJEB37584)
T=0.102 (65/640, PharmGKB)
G=0.215 (129/600, NorthernSweden)
G=0.210 (112/534, MGP)
G=0.176 (52/296, FINRISK)
G=0.167 (36/216, Qatari)
T=0.466 (55/118, SGDP_PRJ)
G=0.40 (16/40, GENOME_DK)
T=0.46 (11/24, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: KCNH2 : Missense Variant
Publications: 50 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	329346	T=0.778877	A=0.000000, C=0.000009, G=0.221114	0.611071	0.053307	0.335623	32
European	Sub	283744	T=0.763318	A=0.000000, C=0.000004, G=0.236678	0.584566	0.057926	0.357508	9
African	Sub	11472	T=0.95990	A=0.00000, C=0.00000, G=0.04010	0.922768	0.002964	0.074268	4
African Others	Sub	410	T=0.998	A=0.000, C=0.000, G=0.002	0.995122	0.0	0.004878	0
African American	Sub	11062	T=0.95851	A=0.00000, C=0.00000, G=0.04149	0.920087	0.003074	0.07684	4
Asian	Sub	6872	T=0.9518	A=0.0000, C=0.0000, G=0.0482	0.905704	0.002037	0.092258	0
East Asian	Sub	4914	T=0.9512	A=0.0000, C=0.0000, G=0.0488	0.904762	0.002442	0.092796	0
Other Asian	Sub	1958	T=0.9535	A=0.0000, C=0.0000, G=0.0465	0.908069	0.001021	0.090909	0
Latin American 1	Sub	1022	T=0.8425	A=0.0000, C=0.0000, G=0.1575	0.708415	0.023483	0.268102	0
Latin American 2	Sub	2996	T=0.8742	A=0.0000, C=0.0000, G=0.1258	0.76502	0.016689	0.218291	0
South Asian	Sub	5188	T=0.8086	A=0.0000, C=0.0000, G=0.1914	0.656901	0.039707	0.303392	1
Other	Sub	18052	T=0.81459	A=0.00000, C=0.00011, G=0.18530	0.673205	0.043883	0.282912	20

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
Allele Frequency Aggregator	Total	Global	329130	T=0.778844	A=0.000000, C=0.000009, G=0.221147
Allele Frequency Aggregator	European	Sub	283564	T=0.763292	A=0.000000, C=0.000004, G=0.236705
Allele Frequency Aggregator	Other	Sub	18030	T=0.81442	A=0.00000, C=0.00011, G=0.18547
Allele Frequency Aggregator	African	Sub	11458	T=0.95994	A=0.00000, C=0.00000, G=0.04006
Allele Frequency Aggregator	Asian	Sub	6872	T=0.9518	A=0.0000, C=0.0000, G=0.0482
Allele Frequency Aggregator	South Asian	Sub	5188	T=0.8086	A=0.0000, C=0.0000, G=0.1914
Allele Frequency Aggregator	Latin American 2	Sub	2996	T=0.8742	A=0.0000, C=0.0000, G=0.1258
Allele Frequency Aggregator	Latin American 1	Sub	1022	T=0.8425	A=0.0000, C=0.0000, G=0.1575
TopMed	Global	Study-wide	264690	T=0.845340	G=0.154660
ExAC	Global	Study-wide	114962	T=0.812851	G=0.187149
ExAC	Europe	Sub	69484	T=0.77019	G=0.22981
ExAC	Asian	Sub	24328	T=0.84360	G=0.15640
ExAC	American	Sub	11192	T=0.89707	G=0.10293
ExAC	African	Sub	9104	T=0.9561	G=0.0439
ExAC	Other	Sub	854	T=0.778	G=0.222
gnomAD - Genomes	Global	Study-wide	110064	T=0.797000	G=0.203000
gnomAD - Genomes	European	Sub	61784	T=0.72153	G=0.27847
gnomAD - Genomes	African	Sub	30386	T=0.94073	G=0.05927
gnomAD - Genomes	American	Sub	10708	T=0.79436	G=0.20564
gnomAD - Genomes	Ashkenazi Jewish	Sub	2822	T=0.7690	G=0.2310
gnomAD - Genomes	East Asian	Sub	2700	T=0.9478	G=0.0522
gnomAD - Genomes	Other	Sub	1664	T=0.7945	G=0.2055
The PAGE Study	Global	Study-wide	78692	T=0.90899	G=0.09101
The PAGE Study	AfricanAmerican	Sub	32510	T=0.95152	G=0.04848
The PAGE Study	Mexican	Sub	10808	T=0.87713	G=0.12287
The PAGE Study	Asian	Sub	8316	T=0.9576	G=0.0424
The PAGE Study	PuertoRican	Sub	7918	T=0.8481	G=0.1519
The PAGE Study	NativeHawaiian	Sub	4534	T=0.9255	G=0.0745
The PAGE Study	Cuban	Sub	4230	T=0.7823	G=0.2177
The PAGE Study	Dominican	Sub	3828	T=0.8676	G=0.1324
The PAGE Study	CentralAmerican	Sub	2450	T=0.8853	G=0.1147
The PAGE Study	SouthAmerican	Sub	1982	T=0.8597	G=0.1403
The PAGE Study	NativeAmerican	Sub	1260	T=0.8381	G=0.1619
The PAGE Study	SouthAsian	Sub	856	T=0.798	G=0.202
14KJPN	JAPANESE	Study-wide	28254	T=0.96043	G=0.03957
8.3KJPN	JAPANESE	Study-wide	16756	T=0.96013	G=0.03987
GO Exome Sequencing Project	Global	Study-wide	13006	T=0.83092	G=0.16908
GO Exome Sequencing Project	European American	Sub	8600	T=0.7674	G=0.2326
GO Exome Sequencing Project	African American	Sub	4406	T=0.9548	G=0.0452
1000Genomes_30x	Global	Study-wide	6404	T=0.8679	G=0.1321
1000Genomes_30x	African	Sub	1786	T=0.9927	G=0.0073
1000Genomes_30x	Europe	Sub	1266	T=0.7480	G=0.2520
1000Genomes_30x	South Asian	Sub	1202	T=0.7512	G=0.2488
1000Genomes_30x	East Asian	Sub	1170	T=0.9487	G=0.0513
1000Genomes_30x	American	Sub	980	T=0.842	G=0.158
1000Genomes	Global	Study-wide	5008	T=0.8638	G=0.1362
1000Genomes	African	Sub	1322	T=0.9932	G=0.0068
1000Genomes	East Asian	Sub	1008	T=0.9464	G=0.0536
1000Genomes	Europe	Sub	1006	T=0.7465	G=0.2535
1000Genomes	South Asian	Sub	978	T=0.748	G=0.252
1000Genomes	American	Sub	694	T=0.830	G=0.170
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.8402	G=0.1598
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.7579	G=0.2421
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.7527	G=0.2473
KOREAN population from KRGDB	KOREAN	Study-wide	2902	T=0.9511	G=0.0489
HapMap	Global	Study-wide	1780	T=0.8876	G=0.1124
HapMap	American	Sub	770	T=0.831	G=0.169
HapMap	African	Sub	582	T=0.976	G=0.024
HapMap	Asian	Sub	254	T=0.969	G=0.031
HapMap	Europe	Sub	174	T=0.724	G=0.276
CNV burdens in cranial meningiomas	Global	Study-wide	792	T=0.956	G=0.044
CNV burdens in cranial meningiomas	CRM	Sub	792	T=0.956	G=0.044
PharmGKB Aggregated	Global	Study-wide	640	T=0.102	G=0.898
PharmGKB Aggregated	PA129994867	Sub	640	T=0.102	G=0.898
Northern Sweden	ACPOP	Study-wide	600	T=0.785	G=0.215
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.790	G=0.210
FINRISK	Finnish from FINRISK project	Study-wide	296	T=0.824	G=0.176
Qatari	Global	Study-wide	216	T=0.833	G=0.167
SGDP_PRJ	Global	Study-wide	118	T=0.466	G=0.534
The Danish reference pan genome	Danish	Study-wide	40	T=0.60	G=0.40
Siberian	Global	Study-wide	24	T=0.46	G=0.54

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 7	NC_000007.14:g.150948446T>A
GRCh38.p14 chr 7	NC_000007.14:g.150948446T>C
GRCh38.p14 chr 7	NC_000007.14:g.150948446T>G
GRCh37.p13 chr 7	NC_000007.13:g.150645534T>A
GRCh37.p13 chr 7	NC_000007.13:g.150645534T>C
GRCh37.p13 chr 7	NC_000007.13:g.150645534T>G
KCNH2 RefSeqGene (LRG_288)	NG_008916.1:g.34481A>T
KCNH2 RefSeqGene (LRG_288)	NG_008916.1:g.34481A>G
KCNH2 RefSeqGene (LRG_288)	NG_008916.1:g.34481A>C

Gene: KCNH2, potassium voltage-gated channel subfamily H member 2 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
KCNH2 transcript variant 4	NM_001204798.2:c.	N/A	Genic Downstream Transcript Variant
KCNH2 transcript variant 2	NM_172056.2:c.	N/A	Genic Downstream Transcript Variant
KCNH2 transcript variant 1	NM_000238.4:c.2690A>T	K [AAG] > M [ATG]	Coding Sequence Variant
voltage-gated inwardly rectifying potassium channel KCNH2 isoform a	NP_000229.1:p.Lys897Met	K (Lys) > M (Met)	Missense Variant
KCNH2 transcript variant 1	NM_000238.4:c.2690A>G	K [AAG] > R [AGG]	Coding Sequence Variant
voltage-gated inwardly rectifying potassium channel KCNH2 isoform a	NP_000229.1:p.Lys897Arg	K (Lys) > R (Arg)	Missense Variant
KCNH2 transcript variant 1	NM_000238.4:c.2690A>C	K [AAG] > T [ACG]	Coding Sequence Variant
voltage-gated inwardly rectifying potassium channel KCNH2 isoform a	NP_000229.1:p.Lys897Thr	K (Lys) > T (Thr)	Missense Variant
KCNH2 transcript variant 3	NM_172057.3:c.1670A>T	K [AAG] > M [ATG]	Coding Sequence Variant
voltage-gated inwardly rectifying potassium channel KCNH2 isoform c	NP_742054.1:p.Lys557Met	K (Lys) > M (Met)	Missense Variant
KCNH2 transcript variant 3	NM_172057.3:c.1670A>G	K [AAG] > R [AGG]	Coding Sequence Variant
voltage-gated inwardly rectifying potassium channel KCNH2 isoform c	NP_742054.1:p.Lys557Arg	K (Lys) > R (Arg)	Missense Variant
KCNH2 transcript variant 3	NM_172057.3:c.1670A>C	K [AAG] > T [ACG]	Coding Sequence Variant
voltage-gated inwardly rectifying potassium channel KCNH2 isoform c	NP_742054.1:p.Lys557Thr	K (Lys) > T (Thr)	Missense Variant
KCNH2 transcript variant X1	XM_047420348.1:c.2768A>T	K [AAG] > M [ATG]	Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform X1	XP_047276304.1:p.Lys923Met	K (Lys) > M (Met)	Missense Variant
KCNH2 transcript variant X1	XM_047420348.1:c.2768A>G	K [AAG] > R [AGG]	Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform X1	XP_047276304.1:p.Lys923Arg	K (Lys) > R (Arg)	Missense Variant
KCNH2 transcript variant X1	XM_047420348.1:c.2768A>C	K [AAG] > T [ACG]	Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform X1	XP_047276304.1:p.Lys923Thr	K (Lys) > T (Thr)	Missense Variant
KCNH2 transcript variant X2	XM_017012195.2:c.2540A>T	K [AAG] > M [ATG]	Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform X2	XP_016867684.1:p.Lys847Met	K (Lys) > M (Met)	Missense Variant
KCNH2 transcript variant X2	XM_017012195.2:c.2540A>G	K [AAG] > R [AGG]	Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform X2	XP_016867684.1:p.Lys847Arg	K (Lys) > R (Arg)	Missense Variant
KCNH2 transcript variant X2	XM_017012195.2:c.2540A>C	K [AAG] > T [ACG]	Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform X2	XP_016867684.1:p.Lys847Thr	K (Lys) > T (Thr)	Missense Variant
KCNH2 transcript variant X3	XM_017012196.2:c.2513A>T	K [AAG] > M [ATG]	Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform X3	XP_016867685.1:p.Lys838Met	K (Lys) > M (Met)	Missense Variant
KCNH2 transcript variant X3	XM_017012196.2:c.2513A>G	K [AAG] > R [AGG]	Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform X3	XP_016867685.1:p.Lys838Arg	K (Lys) > R (Arg)	Missense Variant
KCNH2 transcript variant X3	XM_017012196.2:c.2513A>C	K [AAG] > T [ACG]	Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform X3	XP_016867685.1:p.Lys838Thr	K (Lys) > T (Thr)	Missense Variant
KCNH2 transcript variant X4	XM_011516185.3:c.2390A>T	K [AAG] > M [ATG]	Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform X4	XP_011514487.1:p.Lys797Met	K (Lys) > M (Met)	Missense Variant
KCNH2 transcript variant X4	XM_011516185.3:c.2390A>G	K [AAG] > R [AGG]	Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform X4	XP_011514487.1:p.Lys797Arg	K (Lys) > R (Arg)	Missense Variant
KCNH2 transcript variant X4	XM_011516185.3:c.2390A>C	K [AAG] > T [ACG]	Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform X4	XP_011514487.1:p.Lys797Thr	K (Lys) > T (Thr)	Missense Variant
KCNH2 transcript variant X5	XM_047420349.1:c.2768A>T	K [AAG] > M [ATG]	Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform X5	XP_047276305.1:p.Lys923Met	K (Lys) > M (Met)	Missense Variant
KCNH2 transcript variant X5	XM_047420349.1:c.2768A>G	K [AAG] > R [AGG]	Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform X5	XP_047276305.1:p.Lys923Arg	K (Lys) > R (Arg)	Missense Variant
KCNH2 transcript variant X5	XM_047420349.1:c.2768A>C	K [AAG] > T [ACG]	Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform X5	XP_047276305.1:p.Lys923Thr	K (Lys) > T (Thr)	Missense 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.

Allele: A (allele ID: 197190 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000181882.4	not provided	Uncertain-Significance
RCV001842831.2	Cardiac arrhythmia	Uncertain-Significance

Allele: G (allele ID: 78323 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000058152.13	not provided	Benign
RCV000171815.3	Atrial fibrillation	Benign
RCV000223864.13	not specified	Benign
RCV000249181.2	Cardiovascular phenotype	Benign
RCV000276195.6	Long QT syndrome	Benign
RCV001095232.5	Long QT syndrome 2	Benign
RCV001841716.2	Cardiac arrhythmia	Benign

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	G
GRCh38.p14 chr 7	NC_000007.14:g.150948446=	NC_000007.14:g.150948446T>A	NC_000007.14:g.150948446T>C	NC_000007.14:g.150948446T>G
GRCh37.p13 chr 7	NC_000007.13:g.150645534=	NC_000007.13:g.150645534T>A	NC_000007.13:g.150645534T>C	NC_000007.13:g.150645534T>G
KCNH2 RefSeqGene (LRG_288)	NG_008916.1:g.34481=	NG_008916.1:g.34481A>T	NG_008916.1:g.34481A>G	NG_008916.1:g.34481A>C
KCNH2 transcript variant 1	NM_000238.4:c.2690=	NM_000238.4:c.2690A>T	NM_000238.4:c.2690A>G	NM_000238.4:c.2690A>C
KCNH2 transcript variant 1	NM_000238.3:c.2690=	NM_000238.3:c.2690A>T	NM_000238.3:c.2690A>G	NM_000238.3:c.2690A>C
KCNH2 transcript variant 3	NM_172057.3:c.1670=	NM_172057.3:c.1670A>T	NM_172057.3:c.1670A>G	NM_172057.3:c.1670A>C
KCNH2 transcript variant 3	NM_172057.2:c.1670=	NM_172057.2:c.1670A>T	NM_172057.2:c.1670A>G	NM_172057.2:c.1670A>C
KCNH2 transcript variant 9	NR_176254.1:n.3098=	NR_176254.1:n.3098A>T	NR_176254.1:n.3098A>G	NR_176254.1:n.3098A>C
KCNH2 transcript variant 5	NM_001406753.1:c.2402=	NM_001406753.1:c.2402A>T	NM_001406753.1:c.2402A>G	NM_001406753.1:c.2402A>C
KCNH2 transcript variant 10	NR_176255.1:n.1971=	NR_176255.1:n.1971A>T	NR_176255.1:n.1971A>G	NR_176255.1:n.1971A>C
KCNH2 transcript variant X4	XM_011516185.3:c.2390=	XM_011516185.3:c.2390A>T	XM_011516185.3:c.2390A>G	XM_011516185.3:c.2390A>C
KCNH2 transcript variant X2	XM_011516185.2:c.2390=	XM_011516185.2:c.2390A>T	XM_011516185.2:c.2390A>G	XM_011516185.2:c.2390A>C
KCNH2 transcript variant X1	XM_011516185.1:c.2390=	XM_011516185.1:c.2390A>T	XM_011516185.1:c.2390A>G	XM_011516185.1:c.2390A>C
KCNH2 transcript variant X2	XM_017012195.2:c.2540=	XM_017012195.2:c.2540A>T	XM_017012195.2:c.2540A>G	XM_017012195.2:c.2540A>C
KCNH2 transcript variant X1	XM_017012195.1:c.2540=	XM_017012195.1:c.2540A>T	XM_017012195.1:c.2540A>G	XM_017012195.1:c.2540A>C
KCNH2 transcript variant X3	XM_017012196.2:c.2513=	XM_017012196.2:c.2513A>T	XM_017012196.2:c.2513A>G	XM_017012196.2:c.2513A>C
KCNH2 transcript variant X3	XM_017012196.1:c.2513=	XM_017012196.1:c.2513A>T	XM_017012196.1:c.2513A>G	XM_017012196.1:c.2513A>C
KCNH2 transcript variant X1	XM_047420348.1:c.2768=	XM_047420348.1:c.2768A>T	XM_047420348.1:c.2768A>G	XM_047420348.1:c.2768A>C
KCNH2 transcript variant X5	XM_047420349.1:c.2768=	XM_047420349.1:c.2768A>T	XM_047420349.1:c.2768A>G	XM_047420349.1:c.2768A>C
voltage-gated inwardly rectifying potassium channel KCNH2 isoform a	NP_000229.1:p.Lys897=	NP_000229.1:p.Lys897Met	NP_000229.1:p.Lys897Arg	NP_000229.1:p.Lys897Thr
voltage-gated inwardly rectifying potassium channel KCNH2 isoform c	NP_742054.1:p.Lys557=	NP_742054.1:p.Lys557Met	NP_742054.1:p.Lys557Arg	NP_742054.1:p.Lys557Thr
potassium voltage-gated channel subfamily H member 2 isoform X4	XP_011514487.1:p.Lys797=	XP_011514487.1:p.Lys797Met	XP_011514487.1:p.Lys797Arg	XP_011514487.1:p.Lys797Thr
potassium voltage-gated channel subfamily H member 2 isoform X2	XP_016867684.1:p.Lys847=	XP_016867684.1:p.Lys847Met	XP_016867684.1:p.Lys847Arg	XP_016867684.1:p.Lys847Thr
potassium voltage-gated channel subfamily H member 2 isoform X3	XP_016867685.1:p.Lys838=	XP_016867685.1:p.Lys838Met	XP_016867685.1:p.Lys838Arg	XP_016867685.1:p.Lys838Thr
potassium voltage-gated channel subfamily H member 2 isoform X1	XP_047276304.1:p.Lys923=	XP_047276304.1:p.Lys923Met	XP_047276304.1:p.Lys923Arg	XP_047276304.1:p.Lys923Thr
potassium voltage-gated channel subfamily H member 2 isoform X5	XP_047276305.1:p.Lys923=	XP_047276305.1:p.Lys923Met	XP_047276305.1:p.Lys923Arg	XP_047276305.1:p.Lys923Thr

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#.

136 SubSNP, 28 Frequency, 9 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss4181602	Nov 05, 2001 (102)
2	DRSHEAD	ss9807249	Aug 27, 2003 (123)
3	PHARMGKB_PAT	ss69364196	May 18, 2007 (127)
4	ILLUMINA	ss74912009	Dec 07, 2007 (129)
5	SI_EXO	ss76900126	Dec 07, 2007 (129)
6	KRIBB_YJKIM	ss119404135	Dec 01, 2009 (131)
7	ILLUMINA	ss153737242	Dec 01, 2009 (131)
8	ILLUMINA	ss159329902	Dec 01, 2009 (131)
9	ILLUMINA	ss160463284	Dec 01, 2009 (131)
10	ILLUMINA	ss172926528	Jul 04, 2010 (132)
11	1000GENOMES	ss234225278	Jul 15, 2010 (132)
12	ILLUMINA	ss244285189	Jul 04, 2010 (132)
13	NHLBI-ESP	ss342250053	May 09, 2011 (134)
14	ILLUMINA	ss410872566	Sep 17, 2011 (135)
15	ILLUMINA	ss480301756	May 04, 2012 (137)
16	ILLUMINA	ss480312837	May 04, 2012 (137)
17	ILLUMINA	ss481068927	Sep 08, 2015 (146)
18	ILLUMINA	ss484948672	May 04, 2012 (137)
19	RBH_CV_BRU	ss487104648	Mar 09, 2012 (136)
20	1000GENOMES	ss490957305	May 04, 2012 (137)
21	EXOME_CHIP	ss491408257	May 04, 2012 (137)
22	CLINSEQ_SNP	ss491918104	May 04, 2012 (137)
23	ILLUMINA	ss536992677	Sep 08, 2015 (146)
24	SSMP	ss654813128	Apr 25, 2013 (138)
25	ILLUMINA	ss778467902	Sep 08, 2015 (146)
26	ILLUMINA	ss780866074	Sep 08, 2015 (146)
27	ILLUMINA	ss782920643	Sep 08, 2015 (146)
28	ILLUMINA	ss783550849	Sep 08, 2015 (146)
29	ILLUMINA	ss783883651	Sep 08, 2015 (146)
30	ILLUMINA	ss832175772	Sep 08, 2015 (146)
31	ILLUMINA	ss832841911	Jul 13, 2019 (153)
32	ILLUMINA	ss833923661	Sep 08, 2015 (146)
33	EVA-GONL	ss984958336	Aug 21, 2014 (142)
34	JMKIDD_LAB	ss1067494072	Aug 21, 2014 (142)
35	1000GENOMES	ss1327740856	Aug 21, 2014 (142)
36	EVA_GENOME_DK	ss1582463292	Apr 01, 2015 (144)
37	EVA_FINRISK	ss1584056161	Apr 01, 2015 (144)
38	EVA_DECODE	ss1594548737	Apr 01, 2015 (144)
39	EVA_UK10K_ALSPAC	ss1619533184	Apr 01, 2015 (144)
40	EVA_UK10K_TWINSUK	ss1662527217	Apr 01, 2015 (144)
41	EVA_EXAC	ss1689026134	Apr 01, 2015 (144)
42	EVA_MGP	ss1711186136	Apr 01, 2015 (144)
43	EVA_SVP	ss1712998339	Apr 01, 2015 (144)
44	ILLUMINA	ss1752671886	Sep 08, 2015 (146)
45	ILLUMINA	ss1752671887	Sep 08, 2015 (146)
46	ILLUMINA	ss1917824218	Feb 12, 2016 (147)
47	WEILL_CORNELL_DGM	ss1928221182	Feb 12, 2016 (147)
48	CLINVAR	ss1939866510	Oct 20, 2015 (146)
49	ILLUMINA	ss1946224983	Feb 12, 2016 (147)
50	ILLUMINA	ss1959065739	Feb 12, 2016 (147)
51	AMU	ss1966656833	Feb 12, 2016 (147)
52	JJLAB	ss2024799568	Sep 14, 2016 (149)
53	USC_VALOUEV	ss2153023196	Dec 20, 2016 (150)
54	HUMAN_LONGEVITY	ss2299064995	Dec 20, 2016 (150)
55	ILLUMINA	ss2634678732	Nov 08, 2017 (151)
56	AFFY	ss2985425388	Nov 08, 2017 (151)
57	AFFY	ss2986055656	Nov 08, 2017 (151)
58	SWEGEN	ss3002295505	Nov 08, 2017 (151)
59	ILLUMINA	ss3022794952	Nov 08, 2017 (151)
60	BIOINF_KMB_FNS_UNIBA	ss3026188806	Nov 08, 2017 (151)
61	CSHL	ss3347917529	Nov 08, 2017 (151)
62	ILLUMINA	ss3629947394	Oct 12, 2018 (152)
63	ILLUMINA	ss3629947395	Oct 12, 2018 (152)
64	ILLUMINA	ss3632582026	Oct 12, 2018 (152)
65	ILLUMINA	ss3633482843	Oct 12, 2018 (152)
66	ILLUMINA	ss3634208721	Oct 12, 2018 (152)
67	ILLUMINA	ss3635148765	Oct 12, 2018 (152)
68	ILLUMINA	ss3635148766	Oct 12, 2018 (152)
69	ILLUMINA	ss3635888012	Oct 12, 2018 (152)
70	ILLUMINA	ss3636883641	Oct 12, 2018 (152)
71	ILLUMINA	ss3637641080	Oct 12, 2018 (152)
72	ILLUMINA	ss3638732243	Oct 12, 2018 (152)
73	ILLUMINA	ss3640856055	Oct 12, 2018 (152)
74	ILLUMINA	ss3640856056	Oct 12, 2018 (152)
75	ILLUMINA	ss3643665351	Oct 12, 2018 (152)
76	ILLUMINA	ss3644958139	Oct 12, 2018 (152)
77	OMUKHERJEE_ADBS	ss3646366472	Oct 12, 2018 (152)
78	ILLUMINA	ss3653331083	Oct 12, 2018 (152)
79	ILLUMINA	ss3654186853	Oct 12, 2018 (152)
80	EGCUT_WGS	ss3670034293	Jul 13, 2019 (153)
81	EVA_DECODE	ss3720992422	Jul 13, 2019 (153)
82	ILLUMINA	ss3726494921	Jul 13, 2019 (153)
83	ACPOP	ss3735203030	Jul 13, 2019 (153)
84	ILLUMINA	ss3744575411	Jul 13, 2019 (153)
85	ILLUMINA	ss3745448704	Jul 13, 2019 (153)
86	ILLUMINA	ss3745448705	Jul 13, 2019 (153)
87	EVA	ss3767344120	Jul 13, 2019 (153)
88	PAGE_CC	ss3771408605	Jul 13, 2019 (153)
89	ILLUMINA	ss3772941390	Jul 13, 2019 (153)
90	ILLUMINA	ss3772941391	Jul 13, 2019 (153)
91	PACBIO	ss3786002341	Jul 13, 2019 (153)
92	PACBIO	ss3791274270	Jul 13, 2019 (153)
93	PACBIO	ss3796154583	Jul 13, 2019 (153)
94	KHV_HUMAN_GENOMES	ss3810512819	Jul 13, 2019 (153)
95	EVA	ss3824334073	Apr 26, 2020 (154)
96	EVA	ss3825732499	Apr 26, 2020 (154)
97	EVA	ss3830897642	Apr 26, 2020 (154)
98	EVA	ss3838949156	Apr 26, 2020 (154)
99	EVA	ss3844406742	Apr 26, 2020 (154)
100	SGDP_PRJ	ss3868724860	Apr 26, 2020 (154)
101	KRGDB	ss3916116988	Apr 26, 2020 (154)
102	KOGIC	ss3962873600	Apr 26, 2020 (154)
103	KOGIC	ss3962873601	Apr 26, 2020 (154)
104	FSA-LAB	ss3984386891	Apr 26, 2021 (155)
105	FSA-LAB	ss3984386892	Apr 26, 2021 (155)
106	EVA	ss3984597499	Apr 26, 2021 (155)
107	EVA	ss3986407667	Apr 26, 2021 (155)
108	GNOMAD	ss4175774869	Apr 26, 2021 (155)
109	TOPMED	ss4768975375	Apr 26, 2021 (155)
110	TOMMO_GENOMICS	ss5186284180	Apr 26, 2021 (155)
111	EVA	ss5237039071	Apr 26, 2021 (155)
112	EVA	ss5237199192	Apr 26, 2021 (155)
113	EVA	ss5237432073	Apr 26, 2021 (155)
114	EVA	ss5237650421	Oct 13, 2022 (156)
115	1000G_HIGH_COVERAGE	ss5275288308	Oct 13, 2022 (156)
116	TRAN_CS_UWATERLOO	ss5314421791	Oct 13, 2022 (156)
117	EVA	ss5315289674	Oct 13, 2022 (156)
118	EVA	ss5377761595	Oct 13, 2022 (156)
119	HUGCELL_USP	ss5472099033	Oct 13, 2022 (156)
120	EVA	ss5509184676	Oct 13, 2022 (156)
121	1000G_HIGH_COVERAGE	ss5564716629	Oct 13, 2022 (156)
122	EVA	ss5624173709	Oct 13, 2022 (156)
123	SANFORD_IMAGENETICS	ss5624679174	Oct 13, 2022 (156)
124	SANFORD_IMAGENETICS	ss5644299745	Oct 13, 2022 (156)
125	TOMMO_GENOMICS	ss5727501126	Oct 13, 2022 (156)
126	EVA	ss5799741007	Oct 13, 2022 (156)
127	EVA	ss5800058738	Oct 13, 2022 (156)
128	EVA	ss5800143744	Oct 13, 2022 (156)
129	YY_MCH	ss5809231947	Oct 13, 2022 (156)
130	EVA	ss5823734831	Oct 13, 2022 (156)
131	EVA	ss5848697353	Oct 13, 2022 (156)
132	EVA	ss5856157498	Oct 13, 2022 (156)
133	EVA	ss5861489259	Oct 13, 2022 (156)
134	EVA	ss5973500221	Oct 13, 2022 (156)
135	EVA	ss5979846286	Oct 13, 2022 (156)
136	EVA	ss5980471971	Oct 13, 2022 (156)
137	1000Genomes	NC_000007.13 - 150645534	Oct 12, 2018 (152)
138	1000Genomes_30x	NC_000007.14 - 150948446	Oct 13, 2022 (156)
139	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 150645534	Oct 12, 2018 (152)
140	Genetic variation in the Estonian population	NC_000007.13 - 150645534	Oct 12, 2018 (152)
141	ExAC	NC_000007.13 - 150645534	Oct 12, 2018 (152)
142	FINRISK	NC_000007.13 - 150645534	Apr 26, 2020 (154)
143	The Danish reference pan genome	NC_000007.13 - 150645534	Apr 26, 2020 (154)
144	gnomAD - Genomes	NC_000007.14 - 150948446	Apr 26, 2021 (155)
145	gnomAD - Exomes Submission ignored due to conflicting rows: Row 6055148 (NC_000007.13:150645533:T:T 238265/238268, NC_000007.13:150645533:T:C 3/238268) Row 6055149 (NC_000007.13:150645533:T:T 195086/238268, NC_000007.13:150645533:T:G 43182/238268)	-	Jul 13, 2019 (153)
146	gnomAD - Exomes Submission ignored due to conflicting rows: Row 6055148 (NC_000007.13:150645533:T:T 238265/238268, NC_000007.13:150645533:T:C 3/238268) Row 6055149 (NC_000007.13:150645533:T:T 195086/238268, NC_000007.13:150645533:T:G 43182/238268)	-	Jul 13, 2019 (153)
147	GO Exome Sequencing Project	NC_000007.13 - 150645534	Oct 12, 2018 (152)
148	HapMap	NC_000007.14 - 150948446	Apr 26, 2020 (154)
149	KOREAN population from KRGDB	NC_000007.13 - 150645534	Apr 26, 2020 (154)
150	Korean Genome Project Submission ignored due to conflicting rows: Row 19251601 (NC_000007.14:150948445:T:G 93/1832) Row 19251602 (NC_000007.14:150948445:T:C 5/1832)	-	Apr 26, 2020 (154)
151	Korean Genome Project Submission ignored due to conflicting rows: Row 19251601 (NC_000007.14:150948445:T:G 93/1832) Row 19251602 (NC_000007.14:150948445:T:C 5/1832)	-	Apr 26, 2020 (154)
152	Medical Genome Project healthy controls from Spanish population	NC_000007.13 - 150645534	Apr 26, 2020 (154)
153	Northern Sweden	NC_000007.13 - 150645534	Jul 13, 2019 (153)
154	The PAGE Study	NC_000007.14 - 150948446	Jul 13, 2019 (153)
155	CNV burdens in cranial meningiomas	NC_000007.13 - 150645534	Apr 26, 2021 (155)
156	PharmGKB Aggregated	NC_000007.14 - 150948446	Apr 26, 2020 (154)
157	Qatari	NC_000007.13 - 150645534	Apr 26, 2020 (154)
158	SGDP_PRJ	NC_000007.13 - 150645534	Apr 26, 2020 (154)
159	Siberian	NC_000007.13 - 150645534	Apr 26, 2020 (154)
160	8.3KJPN	NC_000007.13 - 150645534	Apr 26, 2021 (155)
161	14KJPN	NC_000007.14 - 150948446	Oct 13, 2022 (156)
162	TopMed	NC_000007.14 - 150948446	Apr 26, 2021 (155)
163	UK 10K study - Twins	NC_000007.13 - 150645534	Oct 12, 2018 (152)
164	ALFA	NC_000007.14 - 150948446	Apr 26, 2021 (155)
165	ClinVar	RCV000058152.13	Oct 13, 2022 (156)
166	ClinVar	RCV000171815.3	Oct 13, 2022 (156)
167	ClinVar	RCV000181882.4	Oct 13, 2022 (156)
168	ClinVar	RCV000223864.13	Oct 13, 2022 (156)
169	ClinVar	RCV000249181.2	Oct 13, 2022 (156)
170	ClinVar	RCV000276195.6	Oct 13, 2022 (156)
171	ClinVar	RCV001095232.5	Oct 13, 2022 (156)
172	ClinVar	RCV001841716.2	Oct 13, 2022 (156)
173	ClinVar	RCV001842831.2	Oct 13, 2022 (156)

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)
rs2968861	Jan 04, 2002 (102)
rs8179016	Oct 08, 2004 (123)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
RCV000181882.4, RCV001842831.2, 10051261921, ss1939866510	NC_000007.14:150948445:T:A	NC_000007.14:150948445:T:A	(self)
	NC_000007.13:150645533:T:C	NC_000007.14:150948445:T:C	(self)
10051261921, ss3962873601	NC_000007.14:150948445:T:C	NC_000007.14:150948445:T:C	(self)
ss480301756, ss491918104, ss1594548737, ss1712998339, ss3643665351	NC_000007.12:150276466:T:G	NC_000007.14:150948445:T:G	(self)
39806884, 22150859, 15772541, 9114318, 52622, 8628230, 791940, 23294382, 301896, 8487895, 146932, 10263112, 20741840, 5539550, 44253487, 22150859, ss234225278, ss342250053, ss480312837, ss481068927, ss484948672, ss490957305, ss491408257, ss536992677, ss654813128, ss778467902, ss780866074, ss782920643, ss783550849, ss783883651, ss832175772, ss832841911, ss833923661, ss984958336, ss1067494072, ss1327740856, ss1582463292, ss1584056161, ss1619533184, ss1662527217, ss1689026134, ss1711186136, ss1752671886, ss1752671887, ss1917824218, ss1928221182, ss1946224983, ss1959065739, ss1966656833, ss2024799568, ss2153023196, ss2634678732, ss2985425388, ss2986055656, ss3002295505, ss3022794952, ss3347917529, ss3629947394, ss3629947395, ss3632582026, ss3633482843, ss3634208721, ss3635148765, ss3635148766, ss3635888012, ss3636883641, ss3637641080, ss3638732243, ss3640856055, ss3640856056, ss3644958139, ss3646366472, ss3653331083, ss3654186853, ss3670034293, ss3735203030, ss3744575411, ss3745448704, ss3745448705, ss3767344120, ss3772941390, ss3772941391, ss3786002341, ss3791274270, ss3796154583, ss3824334073, ss3825732499, ss3830897642, ss3838949156, ss3868724860, ss3916116988, ss3984386891, ss3984386892, ss3984597499, ss3986407667, ss5186284180, ss5237432073, ss5315289674, ss5377761595, ss5509184676, ss5624173709, ss5624679174, ss5644299745, ss5799741007, ss5800058738, ss5800143744, ss5823734831, ss5848697353, ss5973500221, ss5979846286, ss5980471971	NC_000007.13:150645533:T:G	NC_000007.14:150948445:T:G	(self)
RCV000058152.13, RCV000171815.3, RCV000223864.13, RCV000249181.2, RCV000276195.6, RCV001095232.5, RCV001841716.2, 52242564, 281082192, 3523338, 630074, 12083, 61338230, 606352934, 10051261921, ss487104648, ss2299064995, ss3026188806, ss3720992422, ss3726494921, ss3771408605, ss3810512819, ss3844406742, ss3962873600, ss4175774869, ss4768975375, ss5237039071, ss5237199192, ss5237650421, ss5275288308, ss5314421791, ss5472099033, ss5564716629, ss5727501126, ss5809231947, ss5856157498, ss5861489259	NC_000007.14:150948445:T:G	NC_000007.14:150948445:T:G	(self)
ss76900126	NT_007914.14:11221549:T:G	NC_000007.14:150948445:T:G	(self)
ss4181602, ss9807249, ss69364196, ss74912009, ss119404135, ss153737242, ss159329902, ss160463284, ss172926528, ss244285189, ss410872566	NT_007914.15:11241156:T:G	NC_000007.14:150948445:T:G	(self)

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

50 citations for rs1805123

PMID	Title	Author	Year	Journal
14760	Prazosin, a selective antagonist of post-synaptic alpha-adrenoceptors [proceedings].	Cambridge D et al.	1977	British journal of pharmacology
10807545	Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population.	Iwasa H et al.	2000	Journal of human genetics
11997281	Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes.	Yang P et al.	2002	Circulation
12402336	DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.	Jongbloed R et al.	2002	Human mutation
12829173	A common polymorphism in KCNH2 (HERG) hastens cardiac repolarization.	Bezzina CR et al.	2003	Cardiovascular research
14661677	Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome.	Ackerman MJ et al.	2003	Mayo Clinic proceedings
14760488	Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.	Paulussen AD et al.	2004	Journal of molecular medicine (Berlin, Germany)
15599693	Single nucleotide polymorphism map of five long-QT genes.	Aydin A et al.	2005	Journal of molecular medicine (Berlin, Germany)
15746444	Common variants in myocardial ion channel genes modify the QT interval in the general population: results from the KORA study.	Pfeufer A et al.	2005	Circulation research
16116052	KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome.	Crotti L et al.	2005	Circulation
16132053	Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population.	Gouas L et al.	2005	European journal of human genetics
16487223	Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore.	Koo SH et al.	2006	British journal of clinical pharmacology
17161064	Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes.	Mank-Seymour AR et al.	2006	American heart journal
17210839	Prevalence of long-QT syndrome gene variants in sudden infant death syndrome.	Arnestad M et al.	2007	Circulation
17227789	The common non-synonymous variant G38S of the KCNE1-(minK)-gene is not associated to QT interval in Central European Caucasians: results from the KORA study.	Akyol M et al.	2007	European heart journal
17534376	Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects.	Gouas L et al.	2007	European journal of human genetics
17709632	Common genetic variation in KCNH2 is associated with QT interval duration: the Framingham Heart Study.	Newton-Cheh C et al.	2007	Circulation
18060054	A novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response.	Bankston JR et al.	2007	PloS one
18222980	The non-synonymous coding IKr-channel variant KCNH2-K897T is associated with atrial fibrillation: results from a systematic candidate gene-based analysis of KCNH2 (HERG).	Sinner MF et al.	2008	European heart journal
18785031	Common variation in NOS1AP and KCNH2 genes and QT interval duration in young adults. The Cardiovascular Risk in Young Finns Study.	Raitakari OT et al.	2009	Annals of medicine
18808722	Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.	Zhang X et al.	2008	BMC medical genetics
19019189	Common candidate gene variants are associated with QT interval duration in the general population.	Marjamaa A et al.	2009	Journal of internal medicine
19149796	Relationship between genetic variants in myocardial sodium and potassium channel genes and QT interval duration in diabetics: the Diabetes Heart Study.	Lehtinen AB et al.	2009	Annals of noninvasive electrocardiology
19214780	In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).	Sudandiradoss C et al.	2008	Genomic medicine
19305408	Common variants at ten loci influence QT interval duration in the QTGEN Study.	Newton-Cheh C et al.	2009	Nature genetics
19305409	Common variants at ten loci modulate the QT interval duration in the QTSCD Study.	Pfeufer A et al.	2009	Nature genetics
19841300	Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.	Kapa S et al.	2009	Circulation
19995808	PhosSNP for systematic analysis of genetic polymorphisms that influence protein phosphorylation.	Ren J et al.	2010	Molecular & cellular proteomics
20215044	Relationship of common candidate gene variants to electrocardiographic T-wave peak to T-wave end interval and T-wave morphology parameters.	Porthan K et al.	2010	Heart rhythm
20400777	Common variants in cardiac ion channel genes are associated with sudden cardiac death.	Albert CM et al.	2010	Circulation. Arrhythmia and electrophysiology
20507645	Two four-marker haplotypes on 7q36.1 region indicate that the potassium channel gene HERG1 (KCNH2, Kv11.1) is related to schizophrenia: a case control study.	Atalar F et al.	2010	Behavioral and brain functions
20850564	R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation.	Bartos DC et al.	2011	Heart rhythm
21056700	Lack of replication in polymorphisms reported to be associated with atrial fibrillation.	Sinner MF et al.	2011	Heart rhythm
21511878	Common genetic variants, QT interval, and sudden cardiac death in a Finnish population-based study.	Noseworthy PA et al.	2011	Circulation. Cardiovascular genetics
22581653	Paralogous annotation of disease-causing variants in long QT syndrome genes.	Ware JS et al.	2012	Human mutation
22688145	Clinical response and side effects of metoclopramide: associations with clinical, demographic, and pharmacogenetic parameters.	Parkman HP et al.	2012	Journal of clinical gastroenterology
22690879	Genetic polymorphisms for estimating risk of atrial fibrillation: a literature-based meta-analysis.	Smith JG et al.	2012	Journal of internal medicine
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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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1805123