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rs199472792

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199472792(A;G)
Make rs199472792(G;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2768905
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472792
ebirs199472792
HLIrs199472792
Exacrs199472792
Varsomers199472792
Maprs199472792
PheGenIrs199472792
hapmaprs199472792
1000 genomesrs199472792
hgdprs199472792
ensemblrs199472792
gopubmedrs199472792
geneviewrs199472792
scholarrs199472792
googlers199472792
pharmgkbrs199472792
gwascentralrs199472792
openSNPrs199472792
23andMers199472792
23andMe allrs199472792
SNP Nexus

SNPshotrs199472792
SNPdbers199472792
MSV3drs199472792
GWAS Ctlgrs199472792
Max Magnitude0
ClinVar
Risk rs199472792(C,G;C,G)
Alt rs199472792(C,G;C,G)
Reference rs199472792(A;A)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome Long QT syndrome not specified
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome Long QT syndrome not specified
Reversed 0
HGVS NC_000011.9:g.2790135A>G
CLNSRC ClinVar University of Washington
CLNACC RCV000046002.2, RCV000057602.2, RCV000148558.1, RCV000182203.2,