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: rs200808744
rs200808744
HGD
1.000 0.080 3 120674919 missense variant C/T snv 4.0E-05 5.6E-05
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		0.800 1.000 13 1996 2016