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.
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
4 0.851 0.280 12 47979534 missense variant G/A snv 0.800 1.000 1 1998 1998
Stickler syndrome, type 1
CUI: C2020284
Disease: Stickler syndrome, type 1
27 0.851 0.280 12 47979534 missense variant G/A snv 0.710 1.000 4 1994 2018
Myopia
CUI: C0027092
Disease: Myopia
167 0.851 0.280 12 47979534 missense variant G/A snv 0.700 0
Stickler syndrome (disorder)
CUI: C0265253
Disease: Stickler syndrome (disorder)
8 0.851 0.280 12 47979534 missense variant G/A snv 0.010 1.000 1 2018 2018