Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554727954
rs1554727954
NOTCH1
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		T 0.700 GeneticVariation CLINVAR Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 29924900

2018