rs74315455, ARSA

N. diseases: 2
Source: CLINVAR ×
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
98 0.925 0.120 22 50627329 missense variant C/A;T snv 1.5E-05; 1.5E-05 0.720 0.909 10 1991 2018
Metachromatic Leukodystrophy, Adult-Type (disorder)
CUI: C0751279
Disease: Metachromatic Leukodystrophy, Adult-Type (disorder)
7 0.925 0.120 22 50627329 missense variant C/A;T snv 1.5E-05; 1.5E-05 0.700 0