Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727504412
rs727504412
C 0.700 CausalMutation CLINVAR Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. 9207788

1997

dbSNP: rs727504412
rs727504412
C 0.700 CausalMutation CLINVAR DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients. 12442286

2002

dbSNP: rs727504412
rs727504412
C 0.700 CausalMutation CLINVAR Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome. 10220506

1999

dbSNP: rs727504412
rs727504412
C 0.700 CausalMutation CLINVAR Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients. 15712272

2005