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rs199472805

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472805(G;G)
Make rs199472805(G;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2777000
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472805
ebirs199472805
HLIrs199472805
Exacrs199472805
Varsomers199472805
Maprs199472805
PheGenIrs199472805
hapmaprs199472805
1000 genomesrs199472805
hgdprs199472805
ensemblrs199472805
gopubmedrs199472805
geneviewrs199472805
scholarrs199472805
googlers199472805
pharmgkbrs199472805
gwascentralrs199472805
openSNPrs199472805
23andMers199472805
23andMe allrs199472805
SNP Nexus

SNPshotrs199472805
SNPdbers199472805
MSV3drs199472805
GWAS Ctlgrs199472805
Max Magnitude0
ClinVar
Risk rs199472805(C,G;C,G)
Alt rs199472805(C,G;C,G)
Reference rs199472805(T;T)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome not provided Long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome Congenital long QT syndrome not provided Long QT syndrome, LQT1 subtype
Reversed 0
HGVS NC_000011.9:g.2798230T>C; NC_000011.9:g.2798230T>G
CLNSRC ClinVar
CLNACC RCV000046016.3, RCV000057620.2, RCV000182217.2, RCV000046017.2, RCV000057621.2,