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rs199473001

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 5 Romano-Ward Long QT Syndrome
(G;G) 0 common in clinvar


Make rs199473001(A;A)
ReferenceGRCh38 38.1/142
Chromosome7
Position150948990
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473001
dbSNP (classic)rs199473001
ClinGenrs199473001
ebirs199473001
HLIrs199473001
Exacrs199473001
Gnomadrs199473001
Varsomers199473001
LitVarrs199473001
Maprs199473001
PheGenIrs199473001
Biobankrs199473001
1000 genomesrs199473001
hgdprs199473001
ensemblrs199473001
geneviewrs199473001
scholarrs199473001
googlers199473001
pharmgkbrs199473001
gwascentralrs199473001
openSNPrs199473001
23andMers199473001
SNPshotrs199473001
SNPdbers199473001
MSV3drs199473001
GWAS Ctlgrs199473001
Max Magnitude5
ClinVar
Risk rs199473001(A;A)
Alt rs199473001(A;A)
Reference Rs199473001(G;G)
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.150646078C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000058124.3, RCV000429479.1,