rs1563366896, HGSNAT

N. diseases: 3
Source: ALL
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.
Mucopolysaccharidosis III
CUI: C0026706
Disease: Mucopolysaccharidosis III
15 0.882 0.120 8 43169216 stop gained C/T snv 0.700 1.000 2 2008 2015
MPS III C
CUI: C0086649
Disease: MPS III C
38 0.882 0.120 8 43169216 stop gained C/T snv 0.700 1.000 1 2008 2008
RETINITIS PIGMENTOSA 73
CUI: C4225287
Disease: RETINITIS PIGMENTOSA 73
13 0.882 0.120 8 43169216 stop gained C/T snv 0.700 1.000 1 2008 2008