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: rs145807417
rs145807417
IDS
1.000 0.160 X 149490395 missense variant T/C snv 1.3E-03 4.8E-03
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
0.700 1.000 20 1992 2006