rs74315457, ARSA

N. diseases: 3
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 0.851 0.160 22 50626976 missense variant A/C snv 2.3E-04 2.8E-04 0.740 1.000 10 1991 2016
Metachromatic Leukodystrophy, Adult-Type (disorder)
CUI: C0751279
Disease: Metachromatic Leukodystrophy, Adult-Type (disorder)
7 0.851 0.160 22 50626976 missense variant A/C snv 2.3E-04 2.8E-04 0.710 1.000 0 2006 2006
Metachromatic leukodystrophy, juvenile type
CUI: C0751276
Disease: Metachromatic leukodystrophy, juvenile type
5 0.851 0.160 22 50626976 missense variant A/C snv 2.3E-04 2.8E-04 0.700 0