rs28931586, CD40

N. diseases: 1
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hyper-IgM Immunodeficiency Syndrome, Type 3
CUI: C1720957
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 3
3 1.000 0.120 20 46122349 missense variant T/C snv 0.800 1.000 2 2001 2016