rs886044555, 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.
Osteochondrodysplasias
CUI: C0029422
Disease: Osteochondrodysplasias
26 0.925 0.080 12 47985772 missense variant C/T snv 0.010 1.000 1 2017 2017
Skeletal dysplasia
CUI: C0410528
Disease: Skeletal dysplasia
65 0.925 0.080 12 47985772 missense variant C/T snv 0.010 1.000 1 2017 2017
Spondyloepiphyseal dysplasia, congenita
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
30 0.925 0.080 12 47985772 missense variant C/T snv 0.010 1.000 1 2014 2014