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: rs752153829
rs752153829
HGD
1.000 0.080 3 120650849 missense variant C/A;T snv 3.6E-05; 4.0E-06
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		0.700 1.000 13 1996 2015