Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434596
rs121434596
NRAS
0.800 GeneticVariation UNIPROT NRAS mutation causes a human autoimmune lymphoproliferative syndrome. 17517660

2007
dbSNP: rs121434596
rs121434596
NRAS
T 0.800 CausalMutation CLINVAR

dbSNP: rs121913535
rs121913535
KRAS
0.720 GeneticVariation BEFREE We used KRAS mutant (G13C/WT) and wild-type isogenic (WT/WT) iPSCs from the same RALD patients, as well as wild-type (WT<sup>ed</sup>/WT) and heterozygous knockout (Δ<sup>ed</sup>/WT) iPSCs, both obtained by genome editing from the same G13C/WT clone. 29983389

2018
dbSNP: rs121913535
rs121913535
KRAS
0.720 GeneticVariation BEFREE By harnessing the transformative power of next generation sequencing, we made the unifying diagnosis of RAS-associated autoimmune leukoproliferative disease (RALD), caused by the somatic gain-of-function p.G13C KRAS mutation, in a boy with the seemingly unrelated immune dysregulatory conditions of Rosai-Dorfman and systemic lupus erythematosus (SLE). 28043923

2017
dbSNP: rs121913535
rs121913535
KRAS
A 0.720 CausalMutation CLINVAR

dbSNP: rs104894366
rs104894366
KRAS
C 0.700 CausalMutation CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665

2014
dbSNP: rs1564699214
rs1564699214
FAS
G 0.700 CausalMutation CLINVAR Autoimmune pancreatitis in the autoimmune lymphoproliferative syndrome (ALPS): a sheep in wolves' clothing? 23407489

2013
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: rs104894366
rs104894366
KRAS
C 0.700 CausalMutation CLINVAR Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621

2011
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: rs1564699214
rs1564699214
FAS
G 0.700 CausalMutation CLINVAR FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome. 21490157

2011
dbSNP: rs104894366
rs104894366
KRAS
C 0.700 CausalMutation CLINVAR Germline KRAS mutations cause Noonan syndrome. 16474405

2006
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
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
dbSNP: rs1564699214
rs1564699214
FAS
G 0.700 CausalMutation CLINVAR Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. 10090885

1999
dbSNP: rs104894360
rs104894360
KRAS
A 0.700 CausalMutation CLINVAR

dbSNP: rs112445441
rs112445441
KRAS
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913529
rs121913529
KRAS
T 0.700 CausalMutation CLINVAR

dbSNP: rs1564686301
rs1564686301
FAS
A 0.700 CausalMutation CLINVAR

dbSNP: rs17860403
rs17860403
CASP10
T 0.700 CausalMutation CLINVAR

dbSNP: rs587776450
rs587776450
FASLG
G 0.700 CausalMutation CLINVAR

dbSNP: rs730880471
rs730880471
KRAS
T 0.700 GeneticVariation CLINVAR

dbSNP: rs80358239
rs80358239
CASP10
C 0.700 CausalMutation CLINVAR