rs766812325, RUNX2

N. diseases: 3
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.
Apert syndrome
CUI: C0001193
Disease: Apert syndrome
24 0.882 0.080 6 45492058 missense variant C/G snv 0.010 1.000 1 2004 2004
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.882 0.080 6 45492058 missense variant C/G snv 0.010 1.000 1 2004 2004
Syndactyly
CUI: C0039075
Disease: Syndactyly
26 0.882 0.080 6 45492058 missense variant C/G snv 0.010 1.000 1 2004 2004