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rs199472692

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472692(A;A)
Make rs199472692(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2570634
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472692
ebirs199472692
HLIrs199472692
Exacrs199472692
Varsomers199472692
Maprs199472692
PheGenIrs199472692
hapmaprs199472692
1000 genomesrs199472692
hgdprs199472692
ensemblrs199472692
gopubmedrs199472692
geneviewrs199472692
scholarrs199472692
googlers199472692
pharmgkbrs199472692
gwascentralrs199472692
openSNPrs199472692
23andMers199472692
23andMe allrs199472692
SNP Nexus

SNPshotrs199472692
SNPdbers199472692
MSV3drs199472692
GWAS Ctlgrs199472692
Max Magnitude0
ClinVar
Risk rs199472692(A;A)
Alt rs199472692(A;A)
Reference rs199472692(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome not provided not specified
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome not provided not specified
Reversed 0
HGVS NC_000011.9:g.2591864G>A
CLNSRC ClinVar
CLNACC RCV000057683.2, RCV000182295.2, RCV000223780.1,