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rs199472778

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199472778(A;C)
Make rs199472778(C;C)
ReferenceGRCh38 38.1/142
Chromosome11
Position2588726
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472778
ebirs199472778
HLIrs199472778
Exacrs199472778
Varsomers199472778
Maprs199472778
PheGenIrs199472778
hapmaprs199472778
1000 genomesrs199472778
hgdprs199472778
ensemblrs199472778
gopubmedrs199472778
geneviewrs199472778
scholarrs199472778
googlers199472778
pharmgkbrs199472778
gwascentralrs199472778
openSNPrs199472778
23andMers199472778
23andMe allrs199472778
SNP Nexus

SNPshotrs199472778
SNPdbers199472778
MSV3drs199472778
GWAS Ctlgrs199472778
Max Magnitude0
ClinVar
Risk rs199472778(C;C)
Alt rs199472778(C;C)
Reference rs199472778(A;A)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2609956A>C
CLNSRC ClinVar
CLNACC RCV000057574.2,