rs74315476, 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 50625675 missense variant G/A snv 4.0E-06 0.700 1.000 5 1995 2008
METACHROMATIC LEUKODYSTROPHY, SEVERE
CUI: C4017094
Disease: METACHROMATIC LEUKODYSTROPHY, SEVERE
7 0.925 0.120 22 50625675 missense variant G/A snv 4.0E-06 0.700 0