rs80338815, ARSA

N. diseases: 3
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.
Leukodystrophy, Metachromatic
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
158 0.882 0.120 22 50627165 splice donor variant C/T snv 6.5E-04 4.5E-04 0.700 1.000 15 1991 2016
Metachromatic Leukodystrophy, Adult-Type (disorder)
CUI: C0751279
Disease: Metachromatic Leukodystrophy, Adult-Type (disorder)
7 0.882 0.120 22 50627165 splice donor variant C/T snv 6.5E-04 4.5E-04 0.700 0
Metachromatic leukodystrophy, juvenile type
CUI: C0751276
Disease: Metachromatic leukodystrophy, juvenile type
5 0.882 0.120 22 50627165 splice donor variant C/T snv 6.5E-04 4.5E-04 0.700 0