rs193302851, 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 1362316 frameshift variant -/C delins 0.700 0