rs137854546, 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 0.925 0.080 20 45894002 missense variant T/C snv 0.700 1.000 4 1991 2000
GALACTOSIALIDOSIS, EARLY INFANTILE
CUI: C4017294
Disease: GALACTOSIALIDOSIS, EARLY INFANTILE
3 0.925 0.080 20 45894002 missense variant T/C snv 0.700 0