rs112029032, HGSNAT

N. diseases: 4
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 0.882 0.160 8 43199504 missense variant G/A snv 4.1E-03 3.6E-03 0.800 0
RETINITIS PIGMENTOSA 73
CUI: C4225287
Disease: RETINITIS PIGMENTOSA 73
13 0.882 0.160 8 43199504 missense variant G/A snv 4.1E-03 3.6E-03 0.800 0
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.882 0.160 8 43199504 missense variant G/A snv 4.1E-03 3.6E-03 0.710 1.000 1 2015 2015
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.882 0.160 8 43199504 missense variant G/A snv 4.1E-03 3.6E-03 0.700 1.000 1 2006 2006