rs367718984, LOXL3

N. diseases: 2
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.
Stickler syndrome (disorder)
CUI: C0265253
Disease: Stickler syndrome (disorder)
8 0.925 0.280 2 74536348 missense variant G/A snv 2.0E-05; 4.0E-06 0.010 1.000 1 2019 2019
Stickler syndrome, type 1
CUI: C2020284
Disease: Stickler syndrome, type 1
27 0.925 0.280 2 74536348 missense variant G/A snv 2.0E-05; 4.0E-06 0.010 1.000 1 2019 2019