rs869312907, COL2A1

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.
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
CUI: C4225273
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
6 0.925 0.040 12 47995910 missense variant C/T snv 0.810 1.000 1 2015 2015
Progressive pseudorheumatoid dysplasia
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
27 0.925 0.040 12 47995910 missense variant C/T snv 0.010 1.000 1 2015 2015