rs199476355, ARSA

N. diseases: 1
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 1.000 0.120 22 50626264 missense variant C/T snv 1.2E-04 1.0E-04 0.700 1.000 8 1994 2016