Source: ALL

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 20 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 18 1997 2018
dbSNP: rs104893989
rs104893989
RUNX2
1.000 0.080 6 45431963 missense variant T/C;G snv 2.0E-05
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.800 1.000 18 1997 2018
dbSNP: rs104893992
rs104893992
RUNX2
1.000 0.080 6 45438039 missense variant C/T snv
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.800 1.000 18 1997 2018
dbSNP: rs104893993
rs104893993
RUNX2
0.925 0.120 6 45437964 missense variant A/G snv
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.800 1.000 18 1997 2018
dbSNP: rs104893995
rs104893995
RUNX2
1.000 0.080 6 45431945 missense variant G/A;C snv 4.0E-06
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.800 1.000 18 1997 2018
dbSNP: rs752933596
rs752933596
RUNX2
1.000 0.080 6 45438020 missense variant A/T snv
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.700 1.000 18 1997 2018
dbSNP: rs1755056
rs1755056
RUNX2 ; RUNX2-AS1
6 45554923 intron variant C/A;T snv
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 2 2018 2018
dbSNP: rs12201899
rs12201899
RUNX2 ; SUPT3H
6 45330467 intron variant C/A;T snv
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2018 2018
dbSNP: rs13191376
rs13191376
RUNX2 ; RUNX2-AS1
6 45554402 intron variant C/G;T snv 0.27
CUI: C1720164
Disease: Central corneal thickness
Central corneal thickness 		0.700 1.000 1 2018 2018
dbSNP: rs145364349
rs145364349
RUNX2 ; SUPT3H
6 45328602 5 prime UTR variant A/G snv 7.7E-03
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs147081589
rs147081589
RUNX2
6 45454462 intron variant C/G snv 7.7E-03
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs1997995
rs1997995
RUNX2
1.000 0.040 6 45406446 intron variant A/G snv 0.35
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		0.700 1.000 1 2018 2018
dbSNP: rs2396502
rs2396502
RUNX2
1.000 0.040 6 45389962 intron variant A/C snv 0.63
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		0.700 1.000 1 2019 2019
dbSNP: rs2677108
rs2677108
RUNX2
6 45436037 intron variant C/T snv 0.55
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs35740963
rs35740963
RUNX2
1.000 0.120 6 45531876 intron variant -/T delins
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.700 1.000 1 2018 2018
dbSNP: rs864621970
rs864621970
RUNX2
1.000 0.080 6 45431915 missense variant G/A snv
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.700 1.000 1 2015 2015
dbSNP: rs9472521
rs9472521
RUNX2
6 45602126 intron variant A/G snv 0.18
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs9472541
rs9472541
RUNX2
6 45655011 intron variant T/A snv 0.47
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs104893988
rs104893988
RUNX2
1.000 0.080 6 45512277 stop gained G/A snv
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.700 0
dbSNP: rs104893993
rs104893993
RUNX2
0.925 0.120 6 45437964 missense variant A/G snv
CUI: C1838416
Disease: CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY
CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY 		0.700 0
dbSNP: rs104893994
rs104893994
RUNX2
1.000 0.080 6 45547304 stop lost G/C snv
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.700 0
dbSNP: rs1057521068
rs1057521068
RUNX2
1.000 0.080 6 45432008 missense variant G/A snv
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.700 0
dbSNP: rs1554384228
rs1554384228
RUNX2
1.000 6 45422750 frameshift variant G/- delins
CUI: C3549874
Disease: METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY
METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY 		0.700 0
dbSNP: rs201647225
rs201647225
RUNX2
1.000 0.080 6 45431962 missense variant A/G snv 1.1E-04 6.3E-05
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.700 0