rs104893991, RUNX2

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.
Cleidocranial Dysplasia
CUI: C0008928
Disease: Cleidocranial Dysplasia
22 0.925 0.120 6 45438040 missense variant G/A snv 0.820 1.000 20 1997 2018
Central Core Myopathy (disorder)
CUI: C0751951
Disease: Central Core Myopathy (disorder)
110 0.925 0.120 6 45438040 missense variant G/A snv 0.010 1.000 1 2014 2014