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rs199473526

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473526(C;C)
Make rs199473526(C;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951504
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473526
ebirs199473526
HLIrs199473526
Exacrs199473526
Varsomers199473526
Maprs199473526
PheGenIrs199473526
hapmaprs199473526
1000 genomesrs199473526
hgdprs199473526
ensemblrs199473526
gopubmedrs199473526
geneviewrs199473526
scholarrs199473526
googlers199473526
pharmgkbrs199473526
gwascentralrs199473526
openSNPrs199473526
23andMers199473526
23andMe allrs199473526
SNP Nexus

SNPshotrs199473526
SNPdbers199473526
MSV3drs199473526
GWAS Ctlgrs199473526
Max Magnitude0
ClinVar
Risk rs199473526(C;C)
Alt rs199473526(C;C)
Reference rs199473526(T;T)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150648592A>G
CLNSRC ClinVar
CLNACC RCV000058038.2,