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rs199472816

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472816(A;A)
Make rs199472816(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2778029
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472816
ebirs199472816
HLIrs199472816
Exacrs199472816
Varsomers199472816
Maprs199472816
PheGenIrs199472816
hapmaprs199472816
1000 genomesrs199472816
hgdprs199472816
ensemblrs199472816
gopubmedrs199472816
geneviewrs199472816
scholarrs199472816
googlers199472816
pharmgkbrs199472816
gwascentralrs199472816
openSNPrs199472816
23andMers199472816
23andMe allrs199472816
SNP Nexus

SNPshotrs199472816
SNPdbers199472816
MSV3drs199472816
GWAS Ctlgrs199472816
Max Magnitude0
ClinVar
Risk rs199472816(A;A)
Alt rs199472816(A;A)
Reference rs199472816(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2799259G>A
CLNSRC ClinVar
CLNACC RCV000057639.2,