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rs199472737

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472737(C;T)
Make rs199472737(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2572942
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472737
ebirs199472737
HLIrs199472737
Exacrs199472737
Varsomers199472737
Maprs199472737
PheGenIrs199472737
hapmaprs199472737
1000 genomesrs199472737
hgdprs199472737
ensemblrs199472737
gopubmedrs199472737
geneviewrs199472737
scholarrs199472737
googlers199472737
pharmgkbrs199472737
gwascentralrs199472737
openSNPrs199472737
23andMers199472737
23andMe allrs199472737
SNP Nexus

SNPshotrs199472737
SNPdbers199472737
MSV3drs199472737
GWAS Ctlgrs199472737
Max Magnitude0
ClinVar
Risk rs199472737(T;T)
Alt rs199472737(T;T)
Reference rs199472737(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome Long QT syndrome not specified
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome Long QT syndrome not specified
Reversed 0
HGVS NC_000011.9:g.2594172C>T
CLNSRC ClinVar University of Washington
CLNACC RCV000057785.2, RCV000148555.1, RCV000182127.2,