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: rs397514623
rs397514623 		1.000 0.120 18 2707567 missense variant C/T snv
CUI: C1834671
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 8 2012 2018
dbSNP: rs397518422
rs397518422 		1.000 0.120 18 2700851 missense variant C/T snv 7.0E-06
CUI: C1834671
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 8 2012 2018
dbSNP: rs1135402737
rs1135402737 		1.000 0.160 18 2666927 missense variant T/C snv
CUI: C1863878
Disease: Arhinia, choanal atresia, and microphthalmia
Arhinia, choanal atresia, and microphthalmia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.800 1.000 3 2017 2018
dbSNP: rs1135402738
rs1135402738 		1.000 0.160 18 2666993 missense variant T/A snv
CUI: C1863878
Disease: Arhinia, choanal atresia, and microphthalmia
Arhinia, choanal atresia, and microphthalmia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.800 1.000 3 2017 2018
dbSNP: rs1135402739
rs1135402739 		1.000 0.160 18 2667022 missense variant A/C snv
CUI: C1863878
Disease: Arhinia, choanal atresia, and microphthalmia
Arhinia, choanal atresia, and microphthalmia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.800 1.000 3 2017 2018
dbSNP: rs1057519639
rs1057519639 		1.000 0.160 18 2694687 missense variant A/G snv
CUI: C1863878
Disease: Arhinia, choanal atresia, and microphthalmia
Arhinia, choanal atresia, and microphthalmia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 2017 2017
dbSNP: rs1057519640
rs1057519640 		1.000 0.160 18 2697034 missense variant A/G snv
CUI: C1863878
Disease: Arhinia, choanal atresia, and microphthalmia
Arhinia, choanal atresia, and microphthalmia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 2017 2017
dbSNP: rs1057519641
rs1057519641 		1.000 0.160 18 2667030 missense variant G/A;C;T snv 5.4E-06
CUI: C1863878
Disease: Arhinia, choanal atresia, and microphthalmia
Arhinia, choanal atresia, and microphthalmia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 2017 2017
dbSNP: rs1057519642
rs1057519642 		1.000 0.160 18 2697898 missense variant A/T snv
CUI: C1863878
Disease: Arhinia, choanal atresia, and microphthalmia
Arhinia, choanal atresia, and microphthalmia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 2017 2017
dbSNP: rs1057519643
rs1057519643 		0.925 0.240 18 2667015 missense variant A/C snv
CUI: C1863878
Disease: Arhinia, choanal atresia, and microphthalmia
Arhinia, choanal atresia, and microphthalmia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 2017 2017
dbSNP: rs1057519644
rs1057519644 		0.925 0.240 18 2667017 missense variant G/A snv
CUI: C1863878
Disease: Arhinia, choanal atresia, and microphthalmia
Arhinia, choanal atresia, and microphthalmia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 2017 2017
dbSNP: rs1057519645
rs1057519645 		1.000 0.160 18 2667010 missense variant A/T snv
CUI: C1863878
Disease: Arhinia, choanal atresia, and microphthalmia
Arhinia, choanal atresia, and microphthalmia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 2017 2017
dbSNP: rs1057519646
rs1057519646 		1.000 0.160 18 2667011 missense variant G/A;T snv
CUI: C1863878
Disease: Arhinia, choanal atresia, and microphthalmia
Arhinia, choanal atresia, and microphthalmia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 2017 2017
dbSNP: rs1135402740
rs1135402740 		0.925 0.240 18 2674018 missense variant T/G snv
CUI: C1863878
Disease: Arhinia, choanal atresia, and microphthalmia
Arhinia, choanal atresia, and microphthalmia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 2017 2017
dbSNP: rs1135402741
rs1135402741 		1.000 0.160 18 2688480 missense variant C/G snv
CUI: C1863878
Disease: Arhinia, choanal atresia, and microphthalmia
Arhinia, choanal atresia, and microphthalmia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 2017 2017
dbSNP: rs1135402742
rs1135402742 		1.000 0.160 18 2697958 missense variant A/T snv
CUI: C1863878
Disease: Arhinia, choanal atresia, and microphthalmia
Arhinia, choanal atresia, and microphthalmia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 2017 2017
dbSNP: rs1135402743
rs1135402743 		1.000 0.160 18 2700613 missense variant G/C snv
CUI: C1863878
Disease: Arhinia, choanal atresia, and microphthalmia
Arhinia, choanal atresia, and microphthalmia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 2017 2017
dbSNP: rs1135402744
rs1135402744 		1.000 0.160 18 2700839 missense variant C/A snv
CUI: C1863878
Disease: Arhinia, choanal atresia, and microphthalmia
Arhinia, choanal atresia, and microphthalmia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 2017 2017
dbSNP: rs1135402745
rs1135402745 		1.000 0.160 18 2700842 missense variant A/G snv
CUI: C1863878
Disease: Arhinia, choanal atresia, and microphthalmia
Arhinia, choanal atresia, and microphthalmia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 2017 2017
dbSNP: rs886041921
rs886041921 		1.000 0.120 18 2688722 missense variant A/G snv
CUI: C1834671
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 8 2012 2018
dbSNP: rs1057519639
rs1057519639 		1.000 0.160 18 2694687 missense variant A/G snv
CUI: C0003126
Disease: Anosmia
Anosmia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1057519642
rs1057519642 		1.000 0.160 18 2697898 missense variant A/T snv
CUI: C1854114
Disease: Short nose
Short nose 		0.700 1.000 1 2017 2017
dbSNP: rs1057519642
rs1057519642 		1.000 0.160 18 2697898 missense variant A/T snv
CUI: C0003126
Disease: Anosmia
Anosmia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1057519643
rs1057519643 		0.925 0.240 18 2667015 missense variant A/C snv
CUI: C1834671
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1135402740
rs1135402740 		0.925 0.240 18 2674018 missense variant T/G snv
CUI: C1854114
Disease: Short nose
Short nose 		0.700 1.000 1 2017 2017