Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1568791694
rs1568791694
JAG1
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		GAAGGCTC 0.700 GeneticVariation CLINVAR JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome. 26076142

2015