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rs199472780

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472780(C;G)
Make rs199472780(G;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2588799
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472780
ebirs199472780
HLIrs199472780
Exacrs199472780
Varsomers199472780
Maprs199472780
PheGenIrs199472780
hapmaprs199472780
1000 genomesrs199472780
hgdprs199472780
ensemblrs199472780
gopubmedrs199472780
geneviewrs199472780
scholarrs199472780
googlers199472780
pharmgkbrs199472780
gwascentralrs199472780
openSNPrs199472780
23andMers199472780
23andMe allrs199472780
SNP Nexus

SNPshotrs199472780
SNPdbers199472780
MSV3drs199472780
GWAS Ctlgrs199472780
Max Magnitude0
ClinVar
Risk rs199472780(G;G)
Alt rs199472780(G;G)
Reference rs199472780(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.2610029C>G
CLNSRC ClinVar
CLNACC RCV000057577.2,