rs74315475, 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 0.120 22 50626033 missense variant T/A snv 3.4E-05 6.3E-05 0.700 1.000 6 1994 2014
Leukodystrophy
CUI: C0023520
Disease: Leukodystrophy
17 0.851 0.120 22 50626033 missense variant T/A snv 3.4E-05 6.3E-05 0.700 0
METACHROMATIC LEUKODYSTROPHY, SEVERE
CUI: C4017094
Disease: METACHROMATIC LEUKODYSTROPHY, SEVERE
7 0.851 0.120 22 50626033 missense variant T/A snv 3.4E-05 6.3E-05 0.700 0