rs150739647, RAG1;RAG2

N. diseases: 2
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.
Omenn Syndrome
CUI: C2700553
Disease: Omenn Syndrome
48 0.925 0.120 11 36576228 missense variant G/A;C snv 4.4E-05; 4.0E-06 0.700 1.000 6 1998 2011
Severe Combined Immunodeficiency
CUI: C0085110
Disease: Severe Combined Immunodeficiency
46 0.925 0.120 11 36576228 missense variant G/A;C snv 4.4E-05; 4.0E-06 0.700 1.000 8 2000 2016