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rs199472785

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472785(C;T)
Make rs199472785(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2768860
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472785
ebirs199472785
HLIrs199472785
Exacrs199472785
Varsomers199472785
Maprs199472785
PheGenIrs199472785
hapmaprs199472785
1000 genomesrs199472785
hgdprs199472785
ensemblrs199472785
gopubmedrs199472785
geneviewrs199472785
scholarrs199472785
googlers199472785
pharmgkbrs199472785
gwascentralrs199472785
openSNPrs199472785
23andMers199472785
23andMe allrs199472785
SNP Nexus

SNPshotrs199472785
SNPdbers199472785
MSV3drs199472785
GWAS Ctlgrs199472785
Max Magnitude0
ClinVar
Risk rs199472785(T;T)
Alt rs199472785(T;T)
Reference rs199472785(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2790090C>T
CLNSRC ClinVar
CLNACC RCV000057589.2,