Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057515423

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome9
Position136506852
GeneNOTCH1
is asnp
is mentioned by
dbSNPrs1057515423
dbSNP (old)rs1057515423
ClinGenrs1057515423
ebirs1057515423
HLIrs1057515423
Exacrs1057515423
Gnomadrs1057515423
Varsomers1057515423
Maprs1057515423
PheGenIrs1057515423
Biobankrs1057515423
1000 genomesrs1057515423
hgdprs1057515423
ensemblrs1057515423
gopubmedrs1057515423
geneviewrs1057515423
scholarrs1057515423
googlers1057515423
pharmgkbrs1057515423
gwascentralrs1057515423
openSNPrs1057515423
23andMers1057515423
23andMe allrs1057515423
SNPshotrs1057515423
SNPdbers1057515423
MSV3drs1057515423
GWAS Ctlgrs1057515423
Max Magnitude0
ClinVar
Risk rs1057515423(A;A)
Alt rs1057515423(A;A)
Reference Rs1057515423(C;C)
Significance Pathogenic
Disease Aortic valve disorder
Variation info
Gene NOTCH1
CLNDBN Aortic valve disorder
Reversed 1
HGVS NC_000009.11:g.139401304G>T
CLNSRC
CLNACC RCV000408649.1,