Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs13010627
rs13010627
CASP10
0.020 GeneticVariation BEFREE We found healthy individuals homozygous for V410I, challenging the earlier suggestion that homozygosity for V410I alone causes ALPS. 16446975

2006
dbSNP: rs13010627
rs13010627
CASP10
0.020 GeneticVariation BEFREE In vitro expression studies, the M147T and Q257stop mutants severely impaired caspase-10-mediated apoptosis, whereas the V410I which was the same mutation detected in ALPS patient had a significant, albeit less severe, effect on apoptosis. 11973654

2002