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rs730880116

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 5 Romano-Ward Long QT Syndrome
Make rs730880116(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position150958290
GeneKCNH2
is asnp
is mentioned by
dbSNPrs730880116
dbSNP (classic)rs730880116
ClinGenrs730880116
ebirs730880116
HLIrs730880116
Exacrs730880116
Gnomadrs730880116
Varsomers730880116
LitVarrs730880116
Maprs730880116
PheGenIrs730880116
Biobankrs730880116
1000 genomesrs730880116
hgdprs730880116
ensemblrs730880116
geneviewrs730880116
scholarrs730880116
googlers730880116
pharmgkbrs730880116
gwascentralrs730880116
openSNPrs730880116
23andMers730880116
SNPshotrs730880116
SNPdbers730880116
MSV3drs730880116
GWAS Ctlgrs730880116
Max Magnitude5
ClinVar
Risk rs730880116(T;T)
Alt rs730880116(T;T)
Reference Rs730880116(G;G)
Significance Pathogenic
Disease Long QT syndrome 2 not provided
Variation info
Gene KCNH2
CLNDBN Long QT syndrome 2 not provided
Reversed 1
HGVS NC_000007.13:g.150655378C>A
CLNSRC
CLNACC RCV000157258.1, RCV000412861.1,