Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913080
rs121913080
FAS
C 0.700 GeneticVariation CLINVAR FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome. 21490157

2011
dbSNP: rs121913080
rs121913080
FAS
C 0.700 GeneticVariation CLINVAR The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations. 9927496

1999
dbSNP: rs121913080
rs121913080
FAS
C 0.700 GeneticVariation CLINVAR Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. 10090885

1999