Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1437309558
rs1437309558
JAG1
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		A 0.700 CausalMutation CLINVAR JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome. 26076142

2015
dbSNP: rs1437309558
rs1437309558
JAG1
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		A 0.700 CausalMutation CLINVAR Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families. 9585603

1998