rs74315472, 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 0.882 0.120 22 50626618 missense variant G/A snv 1.4E-05 0.700 1.000 11 1990 2016
METACHROMATIC LEUKODYSTROPHY, SEVERE
CUI: C4017094
Disease: METACHROMATIC LEUKODYSTROPHY, SEVERE
7 0.882 0.120 22 50626618 missense variant G/A snv 1.4E-05 0.700 0