rs121912886, 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, congenita
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
30 0.925 0.080 12 47974090 missense variant G/A;T snv 8.0E-05 0.800 1.000 8 1989 2001
Spondyloperipheral dysplasia short ulna
CUI: C0796173
Disease: Spondyloperipheral dysplasia short ulna
8 0.925 0.080 12 47974090 missense variant G/A;T snv 8.0E-05 0.700 1.000 1 2001 2001