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rs199472855

From SNPedia

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


Make rs199472855(A;A)
ReferenceGRCh38 38.1/142
Chromosome7
Position150974719
GeneKCNH2, LOC107986861
is asnp
is mentioned by
dbSNPrs199472855
dbSNP (classic)rs199472855
ClinGenrs199472855
ebirs199472855
HLIrs199472855
Exacrs199472855
Gnomadrs199472855
Varsomers199472855
LitVarrs199472855
Maprs199472855
PheGenIrs199472855
Biobankrs199472855
1000 genomesrs199472855
hgdprs199472855
ensemblrs199472855
geneviewrs199472855
scholarrs199472855
googlers199472855
pharmgkbrs199472855
gwascentralrs199472855
openSNPrs199472855
23andMers199472855
SNPshotrs199472855
SNPdbers199472855
MSV3drs199472855
GWAS Ctlgrs199472855
Max Magnitude5
ClinVar
Risk rs199472855(A;A)
Alt rs199472855(A;A)
Reference Rs199472855(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.150671807C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000058188.3, RCV000181949.1,