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rs587781259

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587781259(A;A)
Make rs587781259(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position136505409
GeneNOTCH1
is asnp
is mentioned by
dbSNPrs587781259
ebirs587781259
HLIrs587781259
Exacrs587781259
Varsomers587781259
Maprs587781259
PheGenIrs587781259
hapmaprs587781259
1000 genomesrs587781259
hgdprs587781259
ensemblrs587781259
gopubmedrs587781259
geneviewrs587781259
scholarrs587781259
googlers587781259
pharmgkbrs587781259
gwascentralrs587781259
openSNPrs587781259
23andMers587781259
23andMe allrs587781259
SNP Nexus

SNPshotrs587781259
SNPdbers587781259
MSV3drs587781259
GWAS Ctlgrs587781259
Max Magnitude0
ClinVar
Risk rs587781259(A;A)
Alt rs587781259(A;A)
Reference rs587781259(G;G)
Significance Pathogenic
Disease Adams-Oliver syndrome 5
Variation info
Gene NOTCH1
CLNDBN Adams-Oliver syndrome 5
Reversed 1
HGVS NC_000009.11:g.139399861C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000144236.4,