rs121917896, RAG2;IFTAP

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 1.000 0.120 11 36593315 missense variant A/C snv 0.800 1.000 2 1998 2001
Primary immune deficiency disorder
CUI: C0398686
Disease: Primary immune deficiency disorder
23 1.000 0.120 11 36593315 missense variant A/C snv 0.700 1.000 1 2001 2001