rs74315467, 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 50626877 missense variant G/A;T snv 2.0E-05; 8.0E-06 0.700 1.000 6 1993 2016