Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918501
rs121918501
0.807 0.080 10 121520050 missense variant A/C;G snv
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.030 1.000 3 1995 2014
dbSNP: rs121918487
rs121918487
0.716 0.440 10 121517378 missense variant C/A;G;T snv
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.020 1.000 2 1996 2006
dbSNP: rs121918496
rs121918496
0.851 0.120 10 121517377 missense variant G/C snv
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.020 1.000 2 1995 2002
dbSNP: rs79184941
rs79184941
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.020 1.000 2 1997 2014
dbSNP: rs1057519038
rs1057519038
0.882 0.120 10 121520076 missense variant T/C snv
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1057519043
rs1057519043
0.851 0.120 10 121517391 missense variant C/A;G;T snv
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs121913474
rs121913474
0.790 0.200 10 121515260 missense variant A/G snv
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121918488
rs121918488
0.790 0.120 10 121517379 missense variant A/C;G;T snv
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2012 2012
dbSNP: rs121918490
rs121918490
0.851 0.080 10 121517342 missense variant G/C snv
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1995 1995
dbSNP: rs121918492
rs121918492
0.882 0.080 10 121517372 missense variant G/C snv 7.0E-06
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1995 1995
dbSNP: rs121918497
rs121918497
0.776 0.160 10 121520052 missense variant T/G snv
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2001 2001
dbSNP: rs121918502
rs121918502
0.790 0.160 10 121517351 missense variant G/C snv
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2014 2014
dbSNP: rs121918505
rs121918505
0.851 0.080 10 121520119 missense variant A/G snv
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121918507
rs121918507
0.882 0.280 10 121498591 missense variant T/C snv
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1265366960
rs1265366960
0.925 0.080 10 121503857 missense variant G/C snv 7.0E-06
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1354205157
rs1354205157
0.925 0.080 10 121565633 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1490997619
rs1490997619
0.925 0.080 10 121488065 missense variant T/C snv 4.0E-06
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2005 2005
dbSNP: rs374608214
rs374608214
0.742 0.160 10 121520010 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1999 1999
dbSNP: rs751047267
rs751047267
0.925 0.080 10 121496555 missense variant T/C snv 7.0E-06
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2005 2005
dbSNP: rs77543610
rs77543610
0.667 0.560 10 121520160 missense variant G/C snv
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2014 2014
dbSNP: rs777169135
rs777169135
0.851 0.080 10 121488064 missense variant T/C;G snv 4.0E-06
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs780497781
rs780497781
0.925 0.080 10 121479954 missense variant C/T snv 2.4E-05 2.8E-05
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1995 1995
dbSNP: rs974173968
rs974173968
0.882 0.080 10 121551382 missense variant G/A;T snv 8.0E-06
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2012 2012