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rs794728469

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(C;C) 0 common in clinvar
Make rs794728469(-;GGGG)
Make rs794728469(GGGG;GGGG)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position150947372
GeneKCNH2
is asnp
is mentioned by
dbSNPrs794728469
dbSNP (classic)rs794728469
ClinGenrs794728469
ebirs794728469
HLIrs794728469
Exacrs794728469
Gnomadrs794728469
Varsomers794728469
LitVarrs794728469
Maprs794728469
PheGenIrs794728469
Biobankrs794728469
1000 genomesrs794728469
hgdprs794728469
ensemblrs794728469
geneviewrs794728469
scholarrs794728469
googlers794728469
pharmgkbrs794728469
gwascentralrs794728469
openSNPrs794728469
23andMers794728469
SNPshotrs794728469
SNPdbers794728469
MSV3drs794728469
GWAS Ctlgrs794728469
Max Magnitude0
ClinVar
Risk rs794728469(GGGG;GGGG) rs794728469(GG;GG) rs794728469(G;G)
Alt rs794728469(GGGG;GGGG) rs794728469(GG;GG) rs794728469(G;G)
Reference Rs794728469(-;-)
Significance Pathogenic
Disease not provided Cardiac arrhythmia
Variation info
Gene KCNH2
CLNDBN not provided Cardiac arrhythmia
Reversed 1
HGVS NC_000007.13:g.150644461_150644462dupCC; NC_000007.13:g.150644461_150644464dupCCCC; NC_000007.13:g.150644461dupC
CLNSRC
CLNACC RCV000412915.1, RCV000182009.1, RCV000182065.3,