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rs1057515422

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome9
Position136513049
GeneNOTCH1
is asnp
is mentioned by
dbSNPrs1057515422
dbSNP (classic)rs1057515422
biobankenginers1057515422
ClinGenrs1057515422
ebirs1057515422
HLIrs1057515422
Exacrs1057515422
Gnomadrs1057515422
Varsomers1057515422
LitVarrs1057515422
Maprs1057515422
PheGenIrs1057515422
Biobankrs1057515422
1000 genomesrs1057515422
hgdprs1057515422
ensemblrs1057515422
geneviewrs1057515422
scholarrs1057515422
googlers1057515422
pharmgkbrs1057515422
gwascentralrs1057515422
openSNPrs1057515422
23andMers1057515422
23andMe allrs1057515422
SNPshotrs1057515422
SNPdbers1057515422
MSV3drs1057515422
GWAS Ctlgrs1057515422
Max Magnitude0
ClinVar
Risk rs1057515422(G;G)
Alt rs1057515422(G;G)
Reference Rs1057515422(C;C)
Significance Pathogenic
Disease Aortic valve disorder
Variation info
Gene NOTCH1
CLNDBN Aortic valve disorder
Reversed 1
HGVS NC_000009.11:g.139407501G>C
CLNSRC
CLNACC RCV000408651.1,