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rs199473512

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199473512(A;C)
Make rs199473512(C;C)
ReferenceGRCh38 38.1/142
Chromosome7
Position150952565
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473512
ebirs199473512
HLIrs199473512
Exacrs199473512
Varsomers199473512
Maprs199473512
PheGenIrs199473512
hapmaprs199473512
1000 genomesrs199473512
hgdprs199473512
ensemblrs199473512
gopubmedrs199473512
geneviewrs199473512
scholarrs199473512
googlers199473512
pharmgkbrs199473512
gwascentralrs199473512
openSNPrs199473512
23andMers199473512
23andMe allrs199473512
SNP Nexus

SNPshotrs199473512
SNPdbers199473512
MSV3drs199473512
GWAS Ctlgrs199473512
Max Magnitude0
ClinVar
Risk rs199473512(C;C)
Alt rs199473512(C;C)
Reference rs199473512(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.150649653T>G
CLNSRC ClinVar
CLNACC RCV000057904.2,