rs1555271865, GNPTAB

N. diseases: 5
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.
Coarse facial features
CUI: C1845847
Disease: Coarse facial features
33 0.925 0.160 12 101786204 frameshift variant -/T delins 0.700 0
Hepatomegaly
CUI: C0019209
Disease: Hepatomegaly
30 0.925 0.160 12 101786204 frameshift variant -/T delins 0.700 0
Joint stiffness
CUI: C0162298
Disease: Joint stiffness
14 0.925 0.160 12 101786204 frameshift variant -/T delins 0.700 0
MUCOLIPIDOSIS II ALPHA/BETA (disorder)
CUI: C2673377
Disease: MUCOLIPIDOSIS II ALPHA/BETA (disorder)
137 0.925 0.160 12 101786204 frameshift variant -/T delins 0.700 0
Pseudo-Hurler Polydystrophy
CUI: C0033788
Disease: Pseudo-Hurler Polydystrophy
101 0.925 0.160 12 101786204 frameshift variant -/T delins 0.700 0