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: rs121918488
rs121918488
0.801 0.107 10 121517379 missense variant A/C,G,T snp
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 7 1995 2016
dbSNP: rs121918496
rs121918496
0.878 0.107 10 121517377 missense variant G/C snp
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 6 1990 2002
dbSNP: rs121918487
rs121918487
0.846 0.071 10 121517378 missense variant C/A,G,T snp
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 5 1995 2007
dbSNP: rs121918492
rs121918492
0.878 0.071 10 121517372 missense variant G/C snp
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 4 1995 1995
dbSNP: rs121918497
rs121918497
0.878 0.071 10 121520052 stop lost T/G snp
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 3 1995 2001
dbSNP: rs121918501
rs121918501
0.878 0.071 10 121520050 missense variant A/C,G snp
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 3 1995 2013
dbSNP: rs121918507
rs121918507
0.878 0.250 10 121498591 missense variant T/C snp
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 2 2005 2006
dbSNP: rs121918491
rs121918491
0.923 0.071 10 121517371 synonymous variant C/T snp 4.0E-06
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 5 1995 2008
dbSNP: rs121918494
rs121918494
0.878 0.107 10 121517363 missense variant G/C snp
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 2 1995 2014
dbSNP: rs879253721
rs879253721
1.000 0.071 10 121517316 splice region variant T/C snp
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 2 1999 2004
dbSNP: rs121918489
rs121918489
0.923 0.071 10 121517385 missense variant A/G snp
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1 1995 1995
dbSNP: rs121918490
rs121918490
0.923 0.071 10 121517342 missense variant G/C snp
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1 1995 1995
dbSNP: rs121918493
rs121918493
0.923 0.071 10 121517420 missense variant T/C snp
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1 1995 1995
dbSNP: rs121918500
rs121918500
0.923 0.071 10 121520044 missense variant T/C snp
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1 1997 1997
dbSNP: rs387906676
rs387906676
0.923 0.071 10 121517394 missense variant C/G,T snp
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1 1998 1998
dbSNP: rs1057519036
rs1057519036
0.923 0.071 10 121520092 missense variant A/C snp
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057519038
rs1057519038
0.923 0.071 10 121520076 missense variant T/C snp
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057519039
rs1057519039
1.000 0.071 10 121520049 missense variant C/G snp
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057519040
rs1057519040
1.000 0.071 10 121519995 missense variant T/C snp
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057519042
rs1057519042
1.000 0.071 10 121517396 missense variant T/C snp
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057519043
rs1057519043
0.923 0.071 10 121517391 missense variant C/G snp
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057519044
rs1057519044
0.923 0.071 10 121517390 missense variant C/T snp
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057519045
rs1057519045
0.821 0.179 10 121498522 missense variant T/G snp
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121918505
rs121918505
0.846 0.143 10 121520119 missense variant A/G snp
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121913478
rs121913478
0.756 0.321 10 121515280 missense variant T/C snp
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1995 1995