rs74315479, 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 50625639 missense variant C/T snv 1.6E-05 1.4E-05 0.700 1.000 7 1993 2016
ARYLSULFATASE A PSEUDODEFICIENCY, INTERMEDIATE
CUI: C4017096
Disease: ARYLSULFATASE A PSEUDODEFICIENCY, INTERMEDIATE
1 0.925 0.120 22 50625639 missense variant C/T snv 1.6E-05 1.4E-05 0.700 0