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rs1057518661

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518661(C;G)
Make rs1057518661(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position136497391
GeneNOTCH1
is asnp
is mentioned by
dbSNPrs1057518661
dbSNP (old)rs1057518661
ClinGenrs1057518661
ebirs1057518661
HLIrs1057518661
Exacrs1057518661
Gnomadrs1057518661
Varsomers1057518661
Maprs1057518661
PheGenIrs1057518661
Biobankrs1057518661
1000 genomesrs1057518661
hgdprs1057518661
ensemblrs1057518661
gopubmedrs1057518661
geneviewrs1057518661
scholarrs1057518661
googlers1057518661
pharmgkbrs1057518661
gwascentralrs1057518661
openSNPrs1057518661
23andMers1057518661
23andMe allrs1057518661
SNPshotrs1057518661
SNPdbers1057518661
MSV3drs1057518661
GWAS Ctlgrs1057518661
Max Magnitude0
ClinVar
Risk rs1057518661(G;G)
Alt rs1057518661(G;G)
Reference Rs1057518661(C;C)
Significance Pathogenic
Disease Aortic valve disorder
Variation info
Gene NOTCH1
CLNDBN Aortic valve disorder
Reversed 1
HGVS NC_000009.11:g.139391843G>C
CLNSRC
CLNACC RCV000414999.1,