rs121908726, ADA

N. diseases: 4
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.
SCID Due to ADA Deficiency, Early-Onset
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
50 0.851 0.160 20 44626570 missense variant G/C;T snv 4.0E-06 0.700 1.000 11 1984 1998
Adenosine deaminase deficiency
CUI: C0268124
Disease: Adenosine deaminase deficiency
2 0.851 0.160 20 44626570 missense variant G/C;T snv 4.0E-06 0.010 1.000 1 1995 1995
Severe Combined Immunodeficiency
CUI: C0085110
Disease: Severe Combined Immunodeficiency
46 0.851 0.160 20 44626570 missense variant G/C;T snv 4.0E-06 0.010 1.000 1 1995 1995
Severe combined immunodeficiency due to adenosine deaminase deficiency
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
15 0.851 0.160 20 44626570 missense variant G/C;T snv 4.0E-06 0.010 1.000 1 1995 1995