FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
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: rs1232880706
rs1232880706 		0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		Stomatognathic Diseases 0.700 0
dbSNP: rs1232880706
rs1232880706 		0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs1232880706
rs1232880706 		0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		Respiratory Tract Diseases 0.700 0
dbSNP: rs1232880706
rs1232880706 		0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C0032326
Disease: Pneumothorax
Pneumothorax 		Respiratory Tract Diseases 0.700 0
dbSNP: rs1232880706
rs1232880706 		0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		Cardiovascular Diseases 0.700 0
dbSNP: rs1232880706
rs1232880706 		0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1232880706
rs1232880706 		0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs1232880706
rs1232880706 		0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C1704375
Disease: Hypophosphatemic Rickets
Hypophosphatemic Rickets 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1232880706
rs1232880706 		0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.700 0
dbSNP: rs1232880706
rs1232880706 		0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1232880706
rs1232880706 		0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C1837731
Disease: Overfolded helix
Overfolded helix 		0.700 0
dbSNP: rs1232880706
rs1232880706 		0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1232880706
rs1232880706 		0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1232880706
rs1232880706 		0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1232880706
rs1232880706 		0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C0565599
Disease: Maternal hypertension
Maternal hypertension 		Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases 0.700 0
dbSNP: rs1232880706
rs1232880706 		0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C0032461
Disease: Polycythemia
Polycythemia 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1232880706
rs1232880706 		0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C2316787
Disease: Chronic kidney disease stage 3
Chronic kidney disease stage 3 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1232880706
rs1232880706 		0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C0151526
Disease: Premature Birth
Premature Birth 		Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs1232880706
rs1232880706 		0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1232880706
rs1232880706 		0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		0.700 0
dbSNP: rs1232880706
rs1232880706 		0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1232880706
rs1232880706 		0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1232880706
rs1232880706 		0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C0004045
Disease: Asphyxia Neonatorum
Asphyxia Neonatorum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1232880706
rs1232880706 		0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		0.700 0
dbSNP: rs1232880706
rs1232880706 		0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C4023359
Disease: Abnormal maternal serum screening
Abnormal maternal serum screening 		0.700 0