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rs199473478

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473478(C;C)
Make rs199473478(C;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2768879
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473478
ebirs199473478
HLIrs199473478
Exacrs199473478
Varsomers199473478
Maprs199473478
PheGenIrs199473478
hapmaprs199473478
1000 genomesrs199473478
hgdprs199473478
ensemblrs199473478
gopubmedrs199473478
geneviewrs199473478
scholarrs199473478
googlers199473478
pharmgkbrs199473478
gwascentralrs199473478
openSNPrs199473478
23andMers199473478
23andMe allrs199473478
SNP Nexus

SNPshotrs199473478
SNPdbers199473478
MSV3drs199473478
GWAS Ctlgrs199473478
Max Magnitude0
ClinVar
Risk rs199473478(C;C)
Alt rs199473478(C;C)
Reference rs199473478(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.2790109T>C
CLNSRC ClinVar
CLNACC RCV000057591.2,