rs751953529, GNPTAB

N. diseases: 6
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.
Hepatomegaly
CUI: C0019209
Disease: Hepatomegaly
30 0.882 0.200 12 101786012 missense variant C/T snv 4.0E-06 0.700 0
Joint stiffness
CUI: C0162298
Disease: Joint stiffness
14 0.882 0.200 12 101786012 missense variant C/T snv 4.0E-06 0.700 0
MUCOLIPIDOSIS II ALPHA/BETA (disorder)
CUI: C2673377
Disease: MUCOLIPIDOSIS II ALPHA/BETA (disorder)
137 0.882 0.200 12 101786012 missense variant C/T snv 4.0E-06 0.700 0
Pfaundler-Hurler Syndrome
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
90 0.882 0.200 12 101786012 missense variant C/T snv 4.0E-06 0.700 0
Pseudo-Hurler Polydystrophy
CUI: C0033788
Disease: Pseudo-Hurler Polydystrophy
101 0.882 0.200 12 101786012 missense variant C/T snv 4.0E-06 0.700 0
Umbilical hernia
CUI: C0019322
Disease: Umbilical hernia
17 0.882 0.200 12 101786012 missense variant C/T snv 4.0E-06 0.700 0