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rs1800172

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs1800172(A;A)
Make rs1800172(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2847899
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs1800172
ebirs1800172
HLIrs1800172
Exacrs1800172
Varsomers1800172
Maprs1800172
PheGenIrs1800172
hapmaprs1800172
1000 genomesrs1800172
hgdprs1800172
ensemblrs1800172
gopubmedrs1800172
geneviewrs1800172
scholarrs1800172
googlers1800172
pharmgkbrs1800172
gwascentralrs1800172
openSNPrs1800172
23andMers1800172
23andMe allrs1800172
SNP Nexus

SNPshotrs1800172
SNPdbers1800172
MSV3drs1800172
GWAS Ctlgrs1800172
GMAF0.01745
Max Magnitude0
? (A;A) (A;G) (G;G) 28


ClinVar
Risk rs1800172(A;A)
Alt rs1800172(A;A)
Reference rs1800172(G;G)
Significance Non-pathogenic
Disease Cardiac arrhythmia not provided not specified
Variation info
Gene KCNQ1-AS1 KCNQ1
CLNDBN Cardiac arrhythmia not provided not specified
Reversed 0
HGVS NC_000011.9:g.2869129G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000030109.1, RCV000057650.2, RCV000150875.1,



[PMID 14661677] Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome.


[PMID 16487223OA-icon.png] Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore.


[PMID 17221872] Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome.


[PMID 18426444] Single nucleotide polymorphisms and haplotype of four genes encoding cardiac ion channels in Chinese and their association with arrhythmia.


[PMID 155004] Impairment of olfactory perception in male rats by treatment with p-chlorophenylalanine and hydrocortisone.


[PMID 9799083] Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome.


[PMID 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.


[PMID 11761407] Evidence for a single nucleotide polymorphism in the KCNQ1 potassium channel that underlies susceptibility to life-threatening arrhythmias.


[PMID 15028050] Additional gene variants reduce effectiveness of beta-blockers in the LQT1 form of long QT syndrome.


GET Evidence
KCNQ1-G643S
aa_change Gly643Ser
aa_change_short G643S
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.00693784
summary