Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777335
rs587777335 		0.925 0.040 1 32279728 missense variant T/C snv
CUI: C4014233
Disease: IMMUNODEFICIENCY 22
IMMUNODEFICIENCY 22 		0.800 1.000 1 2012 2012
dbSNP: rs10914542
rs10914542 		0.925 0.120 1 32262639 intron variant C/G snv 0.15
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs10914542
rs10914542 		0.925 0.120 1 32262639 intron variant C/G snv 0.15
CUI: C3826457
Disease: Diabetes in children
Diabetes in children 		0.010 1.000 1 2019 2019
dbSNP: rs587777335
rs587777335 		0.925 0.040 1 32279728 missense variant T/C snv
CUI: C1274233
Disease: T-lymphocyte immunodeficiency
T-lymphocyte immunodeficiency 		Immune System Diseases 0.010 1.000 1 2012 2012