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rs794728434

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;CTGC) 5 Romano-Ward Long QT Syndrome
Make rs794728434(CTGC;CTGC)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position150952777
GeneKCNH2
is asnp
is mentioned by
dbSNPrs794728434
dbSNP (classic)rs794728434
ClinGenrs794728434
ebirs794728434
HLIrs794728434
Exacrs794728434
Gnomadrs794728434
Varsomers794728434
LitVarrs794728434
Maprs794728434
PheGenIrs794728434
Biobankrs794728434
1000 genomesrs794728434
hgdprs794728434
ensemblrs794728434
geneviewrs794728434
scholarrs794728434
googlers794728434
pharmgkbrs794728434
gwascentralrs794728434
openSNPrs794728434
23andMers794728434
SNPshotrs794728434
SNPdbers794728434
MSV3drs794728434
GWAS Ctlgrs794728434
Max Magnitude5
ClinVar
Risk rs794728434(CTGC;CTGC)
Alt rs794728434(CTGC;CTGC)
Reference Rs794728434(-;-)
Significance Pathogenic
Disease Cardiac arrhythmia
Variation info
Gene KCNH2
CLNDBN Cardiac arrhythmia
Reversed 1
HGVS NC_000007.13:g.150649866_150649869dupGCAG
CLNSRC
CLNACC RCV000181972.1,