Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104893991
rs104893991
RUNX2
0.925 0.120 6 45438040 missense variant G/A snv
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.820 1.000 2 1997 2018
dbSNP: rs104893990
rs104893990
RUNX2
1.000 0.080 6 45432011 missense variant G/A snv
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.810 1.000 1 1997 2018
dbSNP: rs104893991
rs104893991
RUNX2
0.925 0.120 6 45438040 missense variant G/A snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.010 1.000 1 2014 2014
dbSNP: rs1405419494
rs1405419494
RUNX2
1.000 0.040 6 45422762 synonymous variant G/A;T snv 2.4E-05; 8.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2002 2002
dbSNP: rs1428979499
rs1428979499
RUNX2
1.000 0.080 6 45431875 missense variant G/A snv 4.0E-06
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.010 1.000 1 2010 2010
dbSNP: rs1477135017
rs1477135017
RUNX2
0.851 0.160 6 45546938 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0007659
Disease: Cementoma
Cementoma 		0.010 1.000 1 2017 2017
dbSNP: rs1477135017
rs1477135017
RUNX2
0.851 0.160 6 45546938 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0555197
Disease: Florid cemento-osseous dysplasia
Florid cemento-osseous dysplasia 		0.010 1.000 1 2017 2017
dbSNP: rs1477135017
rs1477135017
RUNX2
0.851 0.160 6 45546938 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis 		0.010 1.000 1 2017 2017
dbSNP: rs1477135017
rs1477135017
RUNX2
0.851 0.160 6 45546938 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C3495361
Disease: Gigantiform Cementoma, Familial
Gigantiform Cementoma, Familial 		0.010 1.000 1 2017 2017
dbSNP: rs6908650
rs6908650
RUNX2
1.000 0.080 6 45390370 intron variant G/A snv 0.42
CUI: C1865343
Disease: OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE 		0.010 1.000 1 2017 2017
dbSNP: rs759100705
rs759100705
RUNX2
1.000 0.080 6 45431872 missense variant C/T snv 8.0E-06
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.010 1.000 1 2012 2012
dbSNP: rs766812325
rs766812325
RUNX2
0.882 0.080 6 45492058 missense variant C/G snv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.010 1.000 1 2004 2004
dbSNP: rs766812325
rs766812325
RUNX2
0.882 0.080 6 45492058 missense variant C/G snv
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.010 1.000 1 2004 2004
dbSNP: rs766812325
rs766812325
RUNX2
0.882 0.080 6 45492058 missense variant C/G snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.010 1.000 1 2004 2004
dbSNP: rs768569177
rs768569177
RUNX2
1.000 0.040 6 45422720 synonymous variant G/A snv 3.2E-05; 1.4E-05 7.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2002 2002