rs766577643, NT5C3A

N. diseases: 2
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.
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
CUI: C1849507
Disease: Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
10 0.925 0.120 7 33024078 missense variant T/C;G snv 8.0E-06 0.700 0
Gilbert Disease (disorder)
CUI: C0017551
Disease: Gilbert Disease (disorder)
29 0.925 0.120 7 33024078 missense variant T/C;G snv 8.0E-06 0.010 1.000 1 2014 2014