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rs587777734

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777734(C;T)
Make rs587777734(T;T)
ReferenceGRCh38 38.1/142
Chromosome9
Position136499229
GeneNOTCH1
is asnp
is mentioned by
dbSNPrs587777734
ebirs587777734
HLIrs587777734
Exacrs587777734
Varsomers587777734
Maprs587777734
PheGenIrs587777734
hapmaprs587777734
1000 genomesrs587777734
hgdprs587777734
ensemblrs587777734
gopubmedrs587777734
geneviewrs587777734
scholarrs587777734
googlers587777734
pharmgkbrs587777734
gwascentralrs587777734
openSNPrs587777734
23andMers587777734
23andMe allrs587777734
SNP Nexus

SNPshotrs587777734
SNPdbers587777734
MSV3drs587777734
GWAS Ctlgrs587777734
Max Magnitude0
ClinVar
Risk rs587777734(T;T)
Alt rs587777734(T;T)
Reference rs587777734(C;C)
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.139393681C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000144233.2, RCV000148352.1,