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rs199472717

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472717(A;A)
Make rs199472717(A;C)
ReferenceGRCh38 38.1/142
Chromosome11
Position2572101
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472717
ebirs199472717
HLIrs199472717
Exacrs199472717
Varsomers199472717
Maprs199472717
PheGenIrs199472717
hapmaprs199472717
1000 genomesrs199472717
hgdprs199472717
ensemblrs199472717
gopubmedrs199472717
geneviewrs199472717
scholarrs199472717
googlers199472717
pharmgkbrs199472717
gwascentralrs199472717
openSNPrs199472717
23andMers199472717
23andMe allrs199472717
SNP Nexus

SNPshotrs199472717
SNPdbers199472717
MSV3drs199472717
GWAS Ctlgrs199472717
Max Magnitude0
ClinVar
Risk rs199472717(A,T;A,T)
Alt rs199472717(A,T;A,T)
Reference rs199472717(C;C)
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.2593331C>A
CLNSRC ClinVar
CLNACC RCV000046121.2, RCV000057752.2,