Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs120074171
rs120074171
HGD
1.000 0.080 3 120638471 missense variant C/A;G;T snv 2.4E-05
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		0.800 1.000 13 1996 2015