Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1564696849
rs1564696849
FAS
A 0.700 CausalMutation CLINVAR Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance. 22237435

2012
dbSNP: rs1564696849
rs1564696849
FAS
A 0.700 CausalMutation CLINVAR Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma. 15459303

2004
dbSNP: rs1564696849
rs1564696849
FAS
A 0.700 CausalMutation CLINVAR Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations. 10875918

2000