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rs199473488

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473488(A;A)
Make rs199473488(A;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150974893
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473488
ebirs199473488
HLIrs199473488
Exacrs199473488
Varsomers199473488
Maprs199473488
PheGenIrs199473488
hapmaprs199473488
1000 genomesrs199473488
hgdprs199473488
ensemblrs199473488
gopubmedrs199473488
geneviewrs199473488
scholarrs199473488
googlers199473488
pharmgkbrs199473488
gwascentralrs199473488
openSNPrs199473488
23andMers199473488
23andMe allrs199473488
SNP Nexus

SNPshotrs199473488
SNPdbers199473488
MSV3drs199473488
GWAS Ctlgrs199473488
Max Magnitude0
ClinVar
Risk rs199473488(A,C;A,C)
Alt rs199473488(A,C;A,C)
Reference rs199473488(T;T)
Significance Pathogenic
Disease not provided Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN not provided Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150671981A>G; NC_000007.13:g.150671981A>T
CLNSRC ClinVar
CLNACC RCV000181925.1, RCV000057879.2,