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rs199472871

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472871(C;T)
Make rs199472871(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150958253
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472871
ebirs199472871
HLIrs199472871
Exacrs199472871
Varsomers199472871
Maprs199472871
PheGenIrs199472871
hapmaprs199472871
1000 genomesrs199472871
hgdprs199472871
ensemblrs199472871
gopubmedrs199472871
geneviewrs199472871
scholarrs199472871
googlers199472871
pharmgkbrs199472871
gwascentralrs199472871
openSNPrs199472871
23andMers199472871
23andMe allrs199472871
SNP Nexus

SNPshotrs199472871
SNPdbers199472871
MSV3drs199472871
GWAS Ctlgrs199472871
Max Magnitude0
ClinVar
Risk rs199472871(T;T)
Alt rs199472871(T;T)
Reference rs199472871(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150655341G>A
CLNSRC ClinVar
CLNACC RCV000058249.2,