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rs199472772

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472772(C;C)
Make rs199472772(C;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2587606
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472772
ebirs199472772
HLIrs199472772
Exacrs199472772
Varsomers199472772
Maprs199472772
PheGenIrs199472772
hapmaprs199472772
1000 genomesrs199472772
hgdprs199472772
ensemblrs199472772
gopubmedrs199472772
geneviewrs199472772
scholarrs199472772
googlers199472772
pharmgkbrs199472772
gwascentralrs199472772
openSNPrs199472772
23andMers199472772
23andMe allrs199472772
SNP Nexus

SNPshotrs199472772
SNPdbers199472772
MSV3drs199472772
GWAS Ctlgrs199472772
Max Magnitude0
ClinVar
Risk rs199472772(C;C)
Alt rs199472772(C;C)
Reference rs199472772(T;T)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2608836T>C
CLNSRC ClinVar
CLNACC RCV000057565.2,