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rs199473529

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473529(G;G)
Make rs199473529(G;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951475
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473529
dbSNP (classic)rs199473529
ClinGenrs199473529
ebirs199473529
HLIrs199473529
Exacrs199473529
Gnomadrs199473529
Varsomers199473529
LitVarrs199473529
Maprs199473529
PheGenIrs199473529
Biobankrs199473529
1000 genomesrs199473529
hgdprs199473529
ensemblrs199473529
geneviewrs199473529
scholarrs199473529
googlers199473529
pharmgkbrs199473529
gwascentralrs199473529
openSNPrs199473529
23andMers199473529
SNPshotrs199473529
SNPdbers199473529
MSV3drs199473529
GWAS Ctlgrs199473529
Max Magnitude0
ClinVar
Risk rs199473529(C;C) rs199473529(G;G)
Alt rs199473529(C;C) rs199473529(G;G)
Reference Rs199473529(T;T)
Significance Pathogenic
Disease Congenital long QT syndrome not provided
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome not provided
Reversed 1
HGVS NC_000007.13:g.150648563A>C; NC_000007.13:g.150648563A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000058053.3, RCV000182036.1,