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rs199472956

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 5 Romano-Ward Long QT Syndrome
Make rs199472956(G;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951508
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472956
dbSNP (classic)rs199472956
ClinGenrs199472956
ebirs199472956
HLIrs199472956
Exacrs199472956
Gnomadrs199472956
Varsomers199472956
LitVarrs199472956
Maprs199472956
PheGenIrs199472956
Biobankrs199472956
1000 genomesrs199472956
hgdprs199472956
ensemblrs199472956
geneviewrs199472956
scholarrs199472956
googlers199472956
pharmgkbrs199472956
gwascentralrs199472956
openSNPrs199472956
23andMers199472956
SNPshotrs199472956
SNPdbers199472956
MSV3drs199472956
GWAS Ctlgrs199472956
Max Magnitude5
ClinVar
Risk rs199472956(G;G)
Alt rs199472956(G;G)
Reference Rs199472956(A;A)
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.150648596T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000058032.3, RCV000181822.2,