rs1401818080, HGSNAT

N. diseases: 1
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.
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 8 43197027 splice region variant -/A delins 4.0E-06; 1.2E-05 1.4E-05 0.700 1.000 1 2009 2009