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: rs10225279
rs10225279 		1.000 0.080 7 19093449 intron variant G/T snv 0.57
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs73071393
rs73071393 		1.000 0.080 7 19056601 intron variant A/G snv 2.8E-02
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1331959399
rs1331959399 		0.925 0.120 7 19117256 synonymous variant T/C snv
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1554442015
rs1554442015 		0.851 0.120 7 19116970 missense variant G/C snv
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs4721745
rs4721745 		0.925 0.080 7 19113889 3 prime UTR variant C/G snv 0.18
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2016 2016
dbSNP: rs4721745
rs4721745 		0.925 0.080 7 19113889 3 prime UTR variant C/G snv 0.18
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2016 2016
dbSNP: rs1554442015
rs1554442015 		0.851 0.120 7 19116970 missense variant G/C snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		Eye Diseases 0.700 0
dbSNP: rs774600019
rs774600019 		1.000 0.080 7 19116836 synonymous variant G/A snv
CUI: C1744559
Disease: Congenital ectodermal dysplasia of face
Congenital ectodermal dysplasia of face 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1331959399
rs1331959399 		0.925 0.120 7 19117256 synonymous variant T/C snv
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2010 2010
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