rs786200859, CTSA

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.
GALACTOSIALIDOSIS
CUI: C0268233
Disease: GALACTOSIALIDOSIS
19 1.000 0.080 20 45893314 splice region variant A/G snv 0.700 1.000 5 1993 2016
GALACTOSIALIDOSIS, ADULT
CUI: C4017293
Disease: GALACTOSIALIDOSIS, ADULT
1 1.000 0.080 20 45893314 splice region variant A/G snv 0.700 0