rs1057516662, HGD

N. diseases: 1
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.
Alkaptonuria
CUI: C0002066
Disease: Alkaptonuria
68 1.000 0.080 3 120652590 splice region variant CTCACA/- delins 0.700 0