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rs199472790

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472790(G;G)
Make rs199472790(G;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2768900
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472790
ebirs199472790
HLIrs199472790
Exacrs199472790
Varsomers199472790
Maprs199472790
PheGenIrs199472790
hapmaprs199472790
1000 genomesrs199472790
hgdprs199472790
ensemblrs199472790
gopubmedrs199472790
geneviewrs199472790
scholarrs199472790
googlers199472790
pharmgkbrs199472790
gwascentralrs199472790
openSNPrs199472790
23andMers199472790
23andMe allrs199472790
SNP Nexus

SNPshotrs199472790
SNPdbers199472790
MSV3drs199472790
GWAS Ctlgrs199472790
Max Magnitude0
ClinVar
Risk rs199472790(G;G)
Alt rs199472790(G;G)
Reference rs199472790(T;T)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome not provided
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided
Reversed 0
HGVS NC_000011.9:g.2790130T>G
CLNSRC ClinVar
CLNACC RCV000046000.2, RCV000057599.2, RCV000182201.1,