rs121908282, 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.
MPS III C
CUI: C0086649
Disease: MPS III C
38 0.925 0.120 8 43173740 missense variant C/T snv 2.8E-05 1.4E-05 0.700 1.000 2 2009 2010
RETINITIS PIGMENTOSA 73
CUI: C4225287
Disease: RETINITIS PIGMENTOSA 73
13 0.925 0.120 8 43173740 missense variant C/T snv 2.8E-05 1.4E-05 0.700 1.000 2 2009 2010
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.925 0.120 8 43173740 missense variant C/T snv 2.8E-05 1.4E-05 0.700 1.000 1 2006 2006