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rs199472983

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472983(C;C)
Make rs199472983(C;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150950988
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472983
ebirs199472983
HLIrs199472983
Exacrs199472983
Varsomers199472983
Maprs199472983
PheGenIrs199472983
hapmaprs199472983
1000 genomesrs199472983
hgdprs199472983
ensemblrs199472983
gopubmedrs199472983
geneviewrs199472983
scholarrs199472983
googlers199472983
pharmgkbrs199472983
gwascentralrs199472983
openSNPrs199472983
23andMers199472983
23andMe allrs199472983
SNP Nexus

SNPshotrs199472983
SNPdbers199472983
MSV3drs199472983
GWAS Ctlgrs199472983
Max Magnitude0
ClinVar
Risk rs199472983(C;C)
Alt rs199472983(C;C)
Reference rs199472983(T;T)
Significance Pathogenic
Disease Congenital long QT syndrome not provided
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome not provided
Reversed 1
HGVS NC_000007.13:g.150648076A>G
CLNSRC ClinVar
CLNACC RCV000058079.2, RCV000181836.2,