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rs199472685

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472685(C;C)
Make rs199472685(C;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2527942
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472685
ebirs199472685
HLIrs199472685
Exacrs199472685
Varsomers199472685
Maprs199472685
PheGenIrs199472685
hapmaprs199472685
1000 genomesrs199472685
hgdprs199472685
ensemblrs199472685
gopubmedrs199472685
geneviewrs199472685
scholarrs199472685
googlers199472685
pharmgkbrs199472685
gwascentralrs199472685
openSNPrs199472685
23andMers199472685
23andMe allrs199472685
SNP Nexus

SNPshotrs199472685
SNPdbers199472685
MSV3drs199472685
GWAS Ctlgrs199472685
Max Magnitude0
ClinVar
Risk rs199472685(C;C)
Alt rs199472685(C;C)
Reference rs199472685(T;T)
Significance Pathogenic
Disease Congenital long QT syndrome not provided
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome not provided
Reversed 0
HGVS NC_000011.9:g.2549172T>C
CLNSRC ClinVar
CLNACC RCV000057669.2, RCV000182326.1,