rs80338820, ARSA

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.
Leukodystrophy, Metachromatic
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
158 0.925 0.120 22 50625578 splice donor variant C/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 2 1991 2013
Metachromatic leukodystrophy, juvenile type
CUI: C0751276
Disease: Metachromatic leukodystrophy, juvenile type
5 0.925 0.120 22 50625578 splice donor variant C/A;T snv 4.0E-06; 4.0E-06 0.700 0