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rs199472799

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472799(A;A)
Make rs199472799(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2776012
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472799
ebirs199472799
HLIrs199472799
Exacrs199472799
Varsomers199472799
Maprs199472799
PheGenIrs199472799
hapmaprs199472799
1000 genomesrs199472799
hgdprs199472799
ensemblrs199472799
gopubmedrs199472799
geneviewrs199472799
scholarrs199472799
googlers199472799
pharmgkbrs199472799
gwascentralrs199472799
openSNPrs199472799
23andMers199472799
23andMe allrs199472799
SNP Nexus

SNPshotrs199472799
SNPdbers199472799
MSV3drs199472799
GWAS Ctlgrs199472799
Max Magnitude0
ClinVar
Risk rs199472799(A;A)
Alt rs199472799(A;A)
Reference rs199472799(G;G)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2797242G>A
CLNSRC ClinVar
CLNACC RCV000046009.2, RCV000057610.2,