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rs794728489

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;GTGG) 5 Romano-Ward Long QT Syndrome
Make rs794728489(GTGG;GTGG)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position150959670
GeneKCNH2
is asnp
is mentioned by
dbSNPrs794728489
dbSNP (classic)rs794728489
ClinGenrs794728489
ebirs794728489
HLIrs794728489
Exacrs794728489
Gnomadrs794728489
Varsomers794728489
LitVarrs794728489
Maprs794728489
PheGenIrs794728489
Biobankrs794728489
1000 genomesrs794728489
hgdprs794728489
ensemblrs794728489
geneviewrs794728489
scholarrs794728489
googlers794728489
pharmgkbrs794728489
gwascentralrs794728489
openSNPrs794728489
23andMers794728489
SNPshotrs794728489
SNPdbers794728489
MSV3drs794728489
GWAS Ctlgrs794728489
Max Magnitude5
ClinVar
Risk rs794728489(GTGG;GTGG)
Alt rs794728489(GTGG;GTGG)
Reference Rs794728489(-;-)
Significance Pathogenic
Disease Cardiac arrhythmia
Variation info
Gene KCNH2
CLNDBN Cardiac arrhythmia
Reversed 1
HGVS NC_000007.13:g.150656758_150656759insCCAC
CLNSRC
CLNACC RCV000182040.1,