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rs199472856

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 5 Romano-Ward Long QT Syndrome
Make rs199472856(G;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150974717
GeneKCNH2, LOC107986861
is asnp
is mentioned by
dbSNPrs199472856
dbSNP (classic)rs199472856
ClinGenrs199472856
ebirs199472856
HLIrs199472856
Exacrs199472856
Gnomadrs199472856
Varsomers199472856
LitVarrs199472856
Maprs199472856
PheGenIrs199472856
Biobankrs199472856
1000 genomesrs199472856
hgdprs199472856
ensemblrs199472856
geneviewrs199472856
scholarrs199472856
googlers199472856
pharmgkbrs199472856
gwascentralrs199472856
openSNPrs199472856
23andMers199472856
SNPshotrs199472856
SNPdbers199472856
MSV3drs199472856
GWAS Ctlgrs199472856
Max Magnitude5
ClinVar
Risk rs199472856(G;G) rs199472856(T;T)
Alt rs199472856(G;G) rs199472856(T;T)
Reference Rs199472856(A;A)
Significance Pathogenic
Disease not provided Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN not provided Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150671805T>A; NC_000007.13:g.150671805T>C
CLNSRC ClinVar
CLNACC RCV000181950.1, RCV000058190.3, RCV000182053.2,