rs104894287, RAG1;RAG2

N. diseases: 5
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.
ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY
CUI: C1835931
Disease: ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY
5 0.827 0.200 11 36575825 missense variant C/G;T snv 3.6E-05 0.800 1.000 1 2005 2005
Omenn Syndrome
CUI: C2700553
Disease: Omenn Syndrome
48 0.827 0.200 11 36575825 missense variant C/G;T snv 3.6E-05 0.010 1.000 1 2008 2008
Severe Combined Immunodeficiency
CUI: C0085110
Disease: Severe Combined Immunodeficiency
46 0.827 0.200 11 36575825 missense variant C/G;T snv 3.6E-05 0.010 1.000 1 2008 2008
Severe combined immunodeficiency, atypical
CUI: C1849236
Disease: Severe combined immunodeficiency, atypical
6 0.827 0.200 11 36575825 missense variant C/G;T snv 3.6E-05 0.010 1.000 1 2008 2008
T-lymphocyte immunodeficiency
CUI: C1274233
Disease: T-lymphocyte immunodeficiency
2 0.827 0.200 11 36575825 missense variant C/G;T snv 3.6E-05 0.010 1.000 1 2008 2008