rs148594123, CD40LG

N. diseases: 1
Source: BEFREE ×
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 1
CUI: C0398689
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 1
6 1.000 0.120 X 136659284 missense variant G/A snv 1.1E-02 1.0E-02 0.010 1.000 1 2012 2012