rs199840952, ZAP70

N. diseases: 7
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.
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
132 0.827 0.240 2 97732893 missense variant C/T snv 1.2E-05 7.0E-06 0.800 1.000 1 2016 2016
Bullous pemphigoid
CUI: C0030805
Disease: Bullous pemphigoid
11 0.827 0.240 2 97732893 missense variant C/T snv 1.2E-05 7.0E-06 0.700 0
Colitis
CUI: C0009319
Disease: Colitis
15 0.827 0.240 2 97732893 missense variant C/T snv 1.2E-05 7.0E-06 0.700 0
Combined immunodeficiency
CUI: C0494261
Disease: Combined immunodeficiency
11 0.827 0.240 2 97732893 missense variant C/T snv 1.2E-05 7.0E-06 0.700 0
Hemophilia, NOS
CUI: C0684275
Disease: Hemophilia, NOS
8 0.827 0.240 2 97732893 missense variant C/T snv 1.2E-05 7.0E-06 0.700 0
Nephrotic Syndrome
CUI: C0027726
Disease: Nephrotic Syndrome
45 0.827 0.240 2 97732893 missense variant C/T snv 1.2E-05 7.0E-06 0.700 0
Proteinuria
CUI: C0033687
Disease: Proteinuria
20 0.827 0.240 2 97732893 missense variant C/T snv 1.2E-05 7.0E-06 0.700 0