Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913081
rs121913081
FAS
0.700 GeneticVariation UNIPROT The Fas-FADD death domain complex structure reveals the basis of DISC assembly and disease mutations. 20935634

2010
dbSNP: rs121913081
rs121913081
FAS
0.700 GeneticVariation UNIPROT Autoimmune lymphoproliferative syndrome (ALPS) in a patient with a new germline Fas gene mutation. 17336828

2007
dbSNP: rs121913081
rs121913081
FAS
0.700 GeneticVariation UNIPROT The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. 11418480

2001
dbSNP: rs121913081
rs121913081
FAS
0.700 GeneticVariation UNIPROT Defective apoptosis due to a point mutation in the death domain of CD95 associated with autoimmune lymphoproliferative syndrome, T-cell lymphoma, and Hodgkin's disease. 10340403

1999
dbSNP: rs121913081
rs121913081
FAS
0.700 GeneticVariation UNIPROT Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. 10090885

1999
dbSNP: rs121913081
rs121913081
FAS
0.700 GeneticVariation UNIPROT The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations. 9927496

1999
dbSNP: rs121913081
rs121913081
FAS
0.700 GeneticVariation UNIPROT Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations. 10515860

1999
dbSNP: rs121913081
rs121913081
FAS
0.700 GeneticVariation UNIPROT The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis. 9821419

1998
dbSNP: rs121913081
rs121913081
FAS
0.700 GeneticVariation UNIPROT Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. 9028957

1997
dbSNP: rs121913081
rs121913081
FAS
0.700 GeneticVariation UNIPROT Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis. 9028321

1997
dbSNP: rs121913081
rs121913081
FAS
0.700 GeneticVariation UNIPROT Fas/Apo1 mutations and autoimmune lymphoproliferative syndrome in a patient with type 2 autoimmune hepatitis. 9322534

1997
dbSNP: rs121913081
rs121913081
FAS
0.700 GeneticVariation UNIPROT Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity. 8929361

1996
dbSNP: rs121913081
rs121913081
FAS
0.700 GeneticVariation UNIPROT Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. 7540117

1995