rs1060499688, GNPTAB

N. diseases: 4
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.
Anemia
CUI: C0002871
Disease: Anemia
94 0.882 0.200 12 101753399 missense variant A/G snv 0.700 0
Joint stiffness
CUI: C0162298
Disease: Joint stiffness
14 0.882 0.200 12 101753399 missense variant A/G snv 0.700 0
MUCOLIPIDOSIS II ALPHA/BETA (disorder)
CUI: C2673377
Disease: MUCOLIPIDOSIS II ALPHA/BETA (disorder)
137 0.882 0.200 12 101753399 missense variant A/G snv 0.700 0
Pseudo-Hurler Polydystrophy
CUI: C0033788
Disease: Pseudo-Hurler Polydystrophy
101 0.882 0.200 12 101753399 missense variant A/G snv 0.700 0