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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.

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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 329346 T=0.778877 A=0.000000, C=0.000009, G=0.221114
European Sub 283744 T=0.763318 A=0.000000, C=0.000004, G=0.236678
African Sub 11472 T=0.95990 A=0.00000, C=0.00000, G=0.04010
African Others Sub 410 T=0.998 A=0.000, C=0.000, G=0.002
African American Sub 11062 T=0.95851 A=0.00000, C=0.00000, G=0.04149
Asian Sub 6872 T=0.9518 A=0.0000, C=0.0000, G=0.0482
East Asian Sub 4914 T=0.9512 A=0.0000, C=0.0000, G=0.0488
Other Asian Sub 1958 T=0.9535 A=0.0000, C=0.0000, G=0.0465
Latin American 1 Sub 1022 T=0.8425 A=0.0000, C=0.0000, G=0.1575
Latin American 2 Sub 2996 T=0.8742 A=0.0000, C=0.0000, G=0.1258
South Asian Sub 5188 T=0.8086 A=0.0000, C=0.0000, G=0.1914
Other Sub 18052 T=0.81459 A=0.00000, C=0.00011, G=0.18530


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
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
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 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
potassium voltage-gated channel subfamily H member 2 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
potassium voltage-gated channel subfamily H member 2 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
potassium voltage-gated channel subfamily H member 2 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
potassium voltage-gated channel subfamily H member 2 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
potassium voltage-gated channel subfamily H member 2 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
potassium voltage-gated channel subfamily H member 2 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
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.

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
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 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
potassium voltage-gated channel subfamily H member 2 isoform a NP_000229.1:p.Lys897= NP_000229.1:p.Lys897Met NP_000229.1:p.Lys897Arg NP_000229.1:p.Lys897Thr
potassium voltage-gated channel subfamily H member 2 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
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#.

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)
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)
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)
Help

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
23753525 Long QT syndrome: beyond the causal mutation. Amin AS et al. 2013 The Journal of physiology
23820649 Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Cooper DN et al. 2013 Human genetics
23856471 Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome. Duchatelet S et al. 2013 Circulation. Cardiovascular genetics
23861362 Interpreting secondary cardiac disease variants in an exome cohort. Ng D et al. 2013 Circulation. Cardiovascular genetics
24033266 A systematic approach to assessing the clinical significance of genetic variants. Duzkale H et al. 2013 Clinical genetics
24705329 Single-nucleotide variations in cardiac arrhythmias: prospects for genomics and proteomics based biomarker discovery and diagnostics. Abunimer A et al. 2014 Genes
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
29548277 Common variants in the hERG (KCNH2) voltage-gated potassium channel are associated with altered fasting and glucose-stimulated plasma incretin and glucagon responses. Engelbrechtsen L et al. 2018 BMC genetics
29623639 Pharmacogenetics of Opioid Use Disorder Treatment. Crist RC et al. 2018 CNS drugs
33875422 Pharmacogene Sequencing of a Gabonese Population with Severe Plasmodium falciparum Malaria Reveals Multiple Novel Variants with Putative Relevance for Antimalarial Treatment. Pernaute-Lau L et al. 2021 Antimicrobial agents and chemotherapy
34638656 Towards Understanding the Genetic Nature of Vasovagal Syncope. Matveeva N et al. 2021 International journal of molecular sciences
34919578 In vivo identification and validation of novel potential predictors for human cardiovascular diseases. Hammouda OT et al. 2021 PloS one
35146537 Genetic variation of pharmacogenomic VIP variants in the Chinese Li population: an updated research. Yang S et al. 2022 Molecular genetics and genomics
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