rs121912876, COL2A1

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.
Czech dysplasia, metatarsal type
CUI: C1836683
Disease: Czech dysplasia, metatarsal type
4 0.925 0.280 12 47994041 missense variant G/A snv 0.840 1.000 6 1993 2016
Stickler syndrome, type 1
CUI: C2020284
Disease: Stickler syndrome, type 1
27 0.925 0.280 12 47994041 missense variant G/A snv 0.700 0
Collagen Diseases
CUI: C0009326
Disease: Collagen Diseases
10 0.925 0.280 12 47994041 missense variant G/A snv 0.010 1.000 1 2007 2007