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: rs104894856
rs104894856
IDS
1.000 0.160 X 149500977 missense variant G/C;T snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
0.800 1.000 22 1992 2014