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rs199472735

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472735(A;A)
Make rs199472735(A;C)
ReferenceGRCh38 38.1/142
Chromosome11
Position2572925
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472735
ebirs199472735
HLIrs199472735
Exacrs199472735
Varsomers199472735
Maprs199472735
PheGenIrs199472735
hapmaprs199472735
1000 genomesrs199472735
hgdprs199472735
ensemblrs199472735
gopubmedrs199472735
geneviewrs199472735
scholarrs199472735
googlers199472735
pharmgkbrs199472735
gwascentralrs199472735
openSNPrs199472735
23andMers199472735
23andMe allrs199472735
SNP Nexus

SNPshotrs199472735
SNPdbers199472735
MSV3drs199472735
GWAS Ctlgrs199472735
Max Magnitude0
ClinVar
Risk rs199472735(A;A)
Alt rs199472735(A;A)
Reference rs199472735(C;C)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome not specified
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome not specified
Reversed 0
HGVS NC_000011.9:g.2594155C>A
CLNSRC ClinVar
CLNACC RCV000046144.2, RCV000057782.2, RCV000150869.1,