Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs146458524
rs146458524
IDS
1.000 0.160 X 149496471 missense variant C/A;T snv 1.6E-05; 3.1E-03
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		0.700 1.000 20 1992 2006