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rs199473521

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199473521(A;T)
Make rs199473521(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951608
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473521
ebirs199473521
HLIrs199473521
Exacrs199473521
Varsomers199473521
Maprs199473521
PheGenIrs199473521
hapmaprs199473521
1000 genomesrs199473521
hgdprs199473521
ensemblrs199473521
gopubmedrs199473521
geneviewrs199473521
scholarrs199473521
googlers199473521
pharmgkbrs199473521
gwascentralrs199473521
openSNPrs199473521
23andMers199473521
23andMe allrs199473521
SNP Nexus

SNPshotrs199473521
SNPdbers199473521
MSV3drs199473521
GWAS Ctlgrs199473521
Max Magnitude0
ClinVar
Risk rs199473521(T;T)
Alt rs199473521(T;T)
Reference rs199473521(A;A)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150648696T>A
CLNSRC ClinVar
CLNACC RCV000057989.2,