APRT, adenine phosphoribosyltransferase, 353

N. diseases: 384; N. variants: 12
Disease: Kidney Calculi ×
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: rs752977102
rs752977102 		0.925 0.120 16 88811577 missense variant G/C snv 2.8E-05 7.0E-05
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018