rs74315480, ARSA

N. diseases: 1
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 1.000 0.120 22 50625615 missense variant G/A;C snv 1.6E-05; 4.0E-06 0.800 1.000 5 1995 2011