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rs199473482

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473482(A;A)
Make rs199473482(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2777991
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473482
ebirs199473482
HLIrs199473482
Exacrs199473482
Varsomers199473482
Maprs199473482
PheGenIrs199473482
hapmaprs199473482
1000 genomesrs199473482
hgdprs199473482
ensemblrs199473482
gopubmedrs199473482
geneviewrs199473482
scholarrs199473482
googlers199473482
pharmgkbrs199473482
gwascentralrs199473482
openSNPrs199473482
23andMers199473482
23andMe allrs199473482
SNP Nexus

SNPshotrs199473482
SNPdbers199473482
MSV3drs199473482
GWAS Ctlgrs199473482
Max Magnitude0
ClinVar
Risk rs199473482(A;A)
Alt rs199473482(A;A)
Reference rs199473482(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome not specified
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome not specified
Reversed 0
HGVS NC_000011.9:g.2799221G>A
CLNSRC ClinVar
CLNACC RCV000057629.2, RCV000182220.3,