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rs199472895

From SNPedia

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


Make rs199472895(A;A)
ReferenceGRCh38 38.1/142
Chromosome7
Position150952718
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472895
dbSNP (classic)rs199472895
ClinGenrs199472895
ebirs199472895
HLIrs199472895
Exacrs199472895
Gnomadrs199472895
Varsomers199472895
LitVarrs199472895
Maprs199472895
PheGenIrs199472895
Biobankrs199472895
1000 genomesrs199472895
hgdprs199472895
ensemblrs199472895
geneviewrs199472895
scholarrs199472895
googlers199472895
pharmgkbrs199472895
gwascentralrs199472895
openSNPrs199472895
23andMers199472895
SNPshotrs199472895
SNPdbers199472895
MSV3drs199472895
GWAS Ctlgrs199472895
Max Magnitude5
ClinVar
Risk rs199472895(A;A)
Alt rs199472895(A;A)
Reference Rs199472895(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.150649806C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000057881.3, RCV000181786.1,