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rs587777736

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777736(A;G)
Make rs587777736(G;G)
ReferenceGRCh38 38.1/142
Chromosome9
Position136517908
GeneNOTCH1
is asnp
is mentioned by
dbSNPrs587777736
ebirs587777736
HLIrs587777736
Exacrs587777736
Varsomers587777736
Maprs587777736
PheGenIrs587777736
hapmaprs587777736
1000 genomesrs587777736
hgdprs587777736
ensemblrs587777736
gopubmedrs587777736
geneviewrs587777736
scholarrs587777736
googlers587777736
pharmgkbrs587777736
gwascentralrs587777736
openSNPrs587777736
23andMers587777736
23andMe allrs587777736
SNP Nexus

SNPshotrs587777736
SNPdbers587777736
MSV3drs587777736
GWAS Ctlgrs587777736
Max Magnitude0
ClinVar
Risk rs587777736(G;G)
Alt rs587777736(G;G)
Reference rs587777736(A;A)
Significance Pathogenic
Disease Adams-Oliver syndrome 5 Adams-Oliver syndrome 1
Variation info
Gene NOTCH1
CLNDBN Adams-Oliver syndrome 5 Adams-Oliver syndrome 1
Reversed 0
HGVS NC_000009.11:g.139412360A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000144235.2, RCV000148351.1,