Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555827769
rs1555827769
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
Alagille Syndrome 1
TGCCCTGG 0.700 CausalMutation CLINVAR Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. 16575836 2006