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rs199473524

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5 Romano-Ward Long QT Syndrome
Make rs199473524(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951555
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473524
dbSNP (classic)rs199473524
ClinGenrs199473524
ebirs199473524
HLIrs199473524
Exacrs199473524
Gnomadrs199473524
Varsomers199473524
LitVarrs199473524
Maprs199473524
PheGenIrs199473524
Biobankrs199473524
1000 genomesrs199473524
hgdprs199473524
ensemblrs199473524
geneviewrs199473524
scholarrs199473524
googlers199473524
pharmgkbrs199473524
gwascentralrs199473524
openSNPrs199473524
23andMers199473524
SNPshotrs199473524
SNPdbers199473524
MSV3drs199473524
GWAS Ctlgrs199473524
Max Magnitude5
ClinVar
Risk rs199473524(T;T)
Alt rs199473524(T;T)
Reference Rs199473524(C;C)
Significance Other
Disease Congenital long QT syndrome not provided Cardiovascular phenotype
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome not provided Cardiovascular phenotype
Reversed 1
HGVS NC_000007.13:g.150648643G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000058009.3, RCV000223761.1, RCV000244892.1,