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rs199473417

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473417(C;C)
Make rs199473417(C;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150974816
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473417
ebirs199473417
HLIrs199473417
Exacrs199473417
Varsomers199473417
Maprs199473417
PheGenIrs199473417
hapmaprs199473417
1000 genomesrs199473417
hgdprs199473417
ensemblrs199473417
gopubmedrs199473417
geneviewrs199473417
scholarrs199473417
googlers199473417
pharmgkbrs199473417
gwascentralrs199473417
openSNPrs199473417
23andMers199473417
23andMe allrs199473417
SNP Nexus

SNPshotrs199473417
SNPdbers199473417
MSV3drs199473417
GWAS Ctlgrs199473417
Max Magnitude0
ClinVar
Risk rs199473417(C;C)
Alt rs199473417(C;C)
Reference rs199473417(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.150671904A>G
CLNSRC ClinVar
CLNACC RCV000058075.2, RCV000181933.2,