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: rs564979861
rs564979861
HGD
1.000 0.080 3 120650841 missense variant C/T snv 2.4E-05 2.1E-05
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		0.700 0