rs74315456, 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 50627338 missense variant G/A snv 3.4E-05 3.5E-05 0.700 1.000 6 1991 2013
Metachromatic Leukodystrophy, Infant
CUI: C0751278
Disease: Metachromatic Leukodystrophy, Infant
4 0.925 0.120 22 50627338 missense variant G/A snv 3.4E-05 3.5E-05 0.700 0