rs137852885, GNPTG

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.
Mucolipidosis III Gamma
CUI: C1854896
Disease: Mucolipidosis III Gamma
34 1.000 0.160 16 1361954 missense variant G/A snv 8.0E-06 7.0E-06 0.800 1.000 7 2000 2016