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rs748706373

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;AG) 5 Romano-Ward Long QT Syndrome
(AG;AG) 0 common in clinvar
Make rs748706373(-;-)
Make rs748706373(-;GA)
Make rs748706373(GA;GA)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position150947611
GeneKCNH2
is asnp
is mentioned by
dbSNPrs748706373
dbSNP (classic)rs748706373
ClinGenrs748706373
ebirs748706373
HLIrs748706373
Exacrs748706373
Gnomadrs748706373
Varsomers748706373
LitVarrs748706373
Maprs748706373
PheGenIrs748706373
Biobankrs748706373
1000 genomesrs748706373
hgdprs748706373
ensemblrs748706373
geneviewrs748706373
scholarrs748706373
googlers748706373
pharmgkbrs748706373
gwascentralrs748706373
openSNPrs748706373
23andMers748706373
SNPshotrs748706373
SNPdbers748706373
MSV3drs748706373
GWAS Ctlgrs748706373
Max Magnitude5
ClinVar
Risk rs748706373(-;-)
Alt rs748706373(-;-)
Reference Rs748706373(AG;AG)
Significance Pathogenic
Disease not provided Cardiovascular phenotype Long QT syndrome
Variation info
Gene KCNH2
CLNDBN not provided Cardiovascular phenotype Long QT syndrome
Reversed 0
HGVS NC_000007.13:g.150644699_150644700delAG
CLNSRC
CLNACC RCV000182004.3, RCV000254145.1, RCV000471453.1,