Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28931586
rs28931586
CD40
0.800 GeneticVariation UNIPROT Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients. 26545377

2016
dbSNP: rs28931586
rs28931586
CD40
0.800 GeneticVariation UNIPROT Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. 11675497

2001
dbSNP: rs28931586
rs28931586
CD40
C 0.800 CausalMutation CLINVAR

dbSNP: rs1568905451
rs1568905451
CD40
C 0.700 CausalMutation CLINVAR

dbSNP: rs1568906348
rs1568906348
CD40
T 0.700 CausalMutation CLINVAR