rs730880315, RUNX2

N. diseases: 1
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 1.000 0.080 6 45546964 frameshift variant -/C delins 0.700 0