Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045785
rs797045785
Entrez Id: 25836;65250
Gene Symbol: NIPBL;CPLANE1
NIPBL;CPLANE1
CUI: C4551851
Disease:
Cornelia de Lange Syndrome 1
AG 0.700 CausalMutation CLINVAR