rs281865019, GNPTAB

N. diseases: 2
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.
Pseudo-Hurler Polydystrophy
CUI: C0033788
Disease: Pseudo-Hurler Polydystrophy
101 0.925 0.160 12 101753516 missense variant T/C snv 0.700 1.000 15 2005 2017
MUCOLIPIDOSIS II ALPHA/BETA (disorder)
CUI: C2673377
Disease: MUCOLIPIDOSIS II ALPHA/BETA (disorder)
137 0.925 0.160 12 101753516 missense variant T/C snv 0.700 0