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: rs1554442016
rs1554442016 		0.882 0.080 7 19116972 missense variant T/A;C snv
CUI: C4540299
Disease: SWEENEY-COX SYNDROME
SWEENEY-COX SYNDROME 		0.800 1.000 1 2017 2017
dbSNP: rs1554442016
rs1554442016 		0.882 0.080 7 19116972 missense variant T/A;C snv
CUI: C0432106
Disease: Midline facial cleft - Tessier cleft 0
Midline facial cleft - Tessier cleft 0 		0.010 1.000 1 2017 2017
dbSNP: rs2717329
rs2717329 		7 19023152 intron variant G/A snv 0.47
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs430
rs430 		7 19066916 intron variant G/A snv 5.3E-02
CUI: C0162701
Disease: Polysomnography
Polysomnography 		0.700 1.000 1 2012 2012
dbSNP: rs1554442015
rs1554442015 		0.851 0.120 7 19116970 missense variant G/C snv
CUI: C4021377
Disease: Prominent crus of helix
Prominent crus of helix 		0.700 0
dbSNP: rs1554442016
rs1554442016 		0.882 0.080 7 19116972 missense variant T/A;C snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2017 2017
dbSNP: rs1554441995
rs1554441995 		0.925 0.080 7 19116927 missense variant C/G snv
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 10 1998 2015
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: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 7 1997 2010
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: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 5 1997 2013
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: rs1554442019
rs1554442019 		0.925 0.080 7 19116976 missense variant G/C snv
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 4 1998 2011
dbSNP: rs104894057
rs104894057 		1.000 0.080 7 19116966 missense variant T/G snv
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 3 1997 2001
dbSNP: rs104894059
rs104894059 		1.000 0.080 7 19116856 missense variant T/C snv
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 3 1997 2001
dbSNP: rs121909189
rs121909189 		1.000 0.080 7 19116930 missense variant A/G snv
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 3 1997 2001
dbSNP: rs1554442082
rs1554442082 		0.925 0.080 7 19117180 frameshift variant CGCGCTGCGCC/- delins
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2003 2013
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: rs104894054
rs104894054 		1.000 0.080 7 19117013 stop gained G/C;T snv
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 1 2002 2002
dbSNP: rs104894055
rs104894055 		0.925 0.080 7 19117240 stop gained G/A snv
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2002 2002
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: rs1554441993
rs1554441993 		0.925 0.080 7 19116913 frameshift variant -/G delins
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2013 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