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rs199472734

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472734(A;A)
Make rs199472734(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2572915
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472734
ebirs199472734
HLIrs199472734
Exacrs199472734
Varsomers199472734
Maprs199472734
PheGenIrs199472734
hapmaprs199472734
1000 genomesrs199472734
hgdprs199472734
ensemblrs199472734
gopubmedrs199472734
geneviewrs199472734
scholarrs199472734
googlers199472734
pharmgkbrs199472734
gwascentralrs199472734
openSNPrs199472734
23andMers199472734
23andMe allrs199472734
SNP Nexus

SNPshotrs199472734
SNPdbers199472734
MSV3drs199472734
GWAS Ctlgrs199472734
Max Magnitude0
ClinVar
Risk rs199472734(A;A)
Alt rs199472734(A;A)
Reference rs199472734(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome not provided Long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome not provided Long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2594145G>A
CLNSRC ClinVar
CLNACC RCV000057781.2, RCV000182125.2, RCV000204994.1,