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
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: rs104893989
rs104893989
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: rs104893990
rs104893990
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: rs104893992
rs104893992
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
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
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
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: rs1428979499
rs1428979499
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: rs759100705
rs759100705
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: rs864621970
rs864621970
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: rs104893988
rs104893988
1.000 0.080 6 45512277 stop gained G/A snv
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
0.700 0
dbSNP: rs104893994
rs104893994
1.000 0.080 6 45547304 stop lost G/C snv
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
0.700 0
dbSNP: rs1057521068
rs1057521068
1.000 0.080 6 45432008 missense variant G/A snv
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
0.700 0
dbSNP: rs201647225
rs201647225
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
dbSNP: rs397515537
rs397515537
1.000 0.080 6 45546910 stop gained C/T snv
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
0.700 0
dbSNP: rs397515538
rs397515538
1.000 0.080 6 45422618 frameshift variant C/-;CC delins
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
0.700 0
dbSNP: rs730880313
rs730880313
1.000 0.080 6 45422723 frameshift variant GCAGCAACAGCAGCA/ACAGCAGCAGCAGCAGCAGCAACAGCAGCCG delins
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
0.700 0
dbSNP: rs730880315
rs730880315
1.000 0.080 6 45546964 frameshift variant -/C delins
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
0.700 0