rs104893993, 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 45437964 missense variant A/G snv 0.800 1.000 18 1997 2018
CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY
CUI: C1838416
Disease: CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY
1 0.925 0.120 6 45437964 missense variant A/G snv 0.700 0