Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs372826934
rs372826934
Entrez Id: 4261
Gene Symbol: CIITA
CIITA
CUI: C2931418
Disease:
Bare lymphocyte syndrome 2
A 0.700 CausalMutation CLINVAR Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome). 8402893 1993