Disease: Craniosynostosis, Type 1 ×
Source: ALL
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: rs121909190
rs121909190 		1.000 0.080 7 19116766 missense variant C/T snv
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2007 2007
dbSNP: rs121909191
rs121909191 		1.000 0.080 7 19116759 missense variant G/A;C snv 4.0E-06
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2007 2007
dbSNP: rs1554441995
rs1554441995 		0.925 0.080 7 19116927 missense variant C/G snv
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 10 1998 2015
dbSNP: rs1554441991
rs1554441991 		0.925 0.080 7 19116905 inframe insertion -/GGCAGCGTGGGGATGATCTTC delins
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 7 1997 2010
dbSNP: rs121909188
rs121909188 		0.925 0.080 7 19116946 stop gained C/A snv
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 5 1997 2013
dbSNP: rs1554442019
rs1554442019 		0.925 0.080 7 19116976 missense variant G/C snv
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 4 1998 2011
dbSNP: rs1554442082
rs1554442082 		0.925 0.080 7 19117180 frameshift variant CGCGCTGCGCC/- delins
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2003 2013
dbSNP: rs1554441993
rs1554441993 		0.925 0.080 7 19116913 frameshift variant -/G delins
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1085307555
rs1085307555 		0.925 0.080 7 19116993 missense variant C/G;T snv
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1563159980
rs1563159980 		0.925 0.080 7 19116903 stop gained -/AGGGCAGCGTGGGGATGATCT delins
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1563160116
rs1563160116 		0.925 0.080 7 19117021 stop gained G/A snv
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1563160337
rs1563160337 		0.925 0.080 7 19117211 frameshift variant CGTCCCCCGCGCTTGCCGCTCG/- delins
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0