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: rs864622779
rs864622779
IDS
1.000 0.160 X 149498202 missense variant C/G snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
0.800 1.000 2 2012 2014