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rs199473442

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473442(C;T)
Make rs199473442(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2445103
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473442
ebirs199473442
HLIrs199473442
Exacrs199473442
Varsomers199473442
Maprs199473442
PheGenIrs199473442
hapmaprs199473442
1000 genomesrs199473442
hgdprs199473442
ensemblrs199473442
gopubmedrs199473442
geneviewrs199473442
scholarrs199473442
googlers199473442
pharmgkbrs199473442
gwascentralrs199473442
openSNPrs199473442
23andMers199473442
23andMe allrs199473442
SNP Nexus

SNPshotrs199473442
SNPdbers199473442
MSV3drs199473442
GWAS Ctlgrs199473442
Max Magnitude0
ClinVar
Risk rs199473442(T;T)
Alt rs199473442(T;T)
Reference rs199473442(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome not specified
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome not specified
Reversed 0
HGVS NC_000011.9:g.2466333C>T
CLNSRC ClinVar
CLNACC RCV000057717.2, RCV000182240.1,