rs80338819, 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 50626676 missense variant C/G;T snv 1.2E-05; 8.0E-06 0.710 1.000 10 1992 2015
Metachromatic Leukodystrophy, Infant
CUI: C0751278
Disease: Metachromatic Leukodystrophy, Infant
10 0.925 0.120 22 50626676 missense variant C/G;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 1996 1996