FN1, fibronectin 1, 2335

N. diseases: 724; N. variants: 33
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: rs1250248
rs1250248 		1.000 0.040 2 215422370 intron variant A/G snv 0.77
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.030 1.000 3 2013 2019
dbSNP: rs1250247
rs1250247 		2 215434906 intron variant C/G;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
dbSNP: rs1250248
rs1250248 		1.000 0.040 2 215422370 intron variant A/G snv 0.77
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2017 2017
dbSNP: rs1250248
rs1250248 		1.000 0.040 2 215422370 intron variant A/G snv 0.77
CUI: C0029928
Disease: Ovarian Diseases
Ovarian Diseases 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1250248
rs1250248 		1.000 0.040 2 215422370 intron variant A/G snv 0.77
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs1250258
rs1250258 		1.000 0.040 2 215435462 intron variant C/T snv 0.79
CUI: C0523633
Disease: Fibronectin measurement
Fibronectin measurement 		0.700 1.000 1 2017 2017
dbSNP: rs1250258
rs1250258 		1.000 0.040 2 215435462 intron variant C/T snv 0.79
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs1250258
rs1250258 		1.000 0.040 2 215435462 intron variant C/T snv 0.79
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2017 2017
dbSNP: rs1277989297
rs1277989297 		0.925 0.200 2 215428270 stop gained G/A snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1277989297
rs1277989297 		0.925 0.200 2 215428270 stop gained G/A snv
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs137854486
rs137854486 		1.000 0.120 2 215376612 missense variant A/T snv
CUI: C1866075
Disease: GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)
GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder) 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.800 1.000 1 2008 2008
dbSNP: rs137854487
rs137854487 		1.000 0.120 2 215375685 missense variant A/C;G snv
CUI: C1866075
Disease: GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)
GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder) 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.800 1.000 1 2008 2008
dbSNP: rs137854488
rs137854488 		1.000 0.120 2 215406306 missense variant T/C snv
CUI: C1866075
Disease: GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)
GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder) 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.800 1.000 1 2008 2008
dbSNP: rs1553658926
rs1553658926 		0.925 0.160 2 215428246 missense variant A/C snv
CUI: C0432221
Disease: Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, 'corner fracture' type 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and Injuries 0.800 1.000 1 2017 2017
dbSNP: rs1553659131
rs1553659131 		0.925 0.160 2 215428306 missense variant A/C snv
CUI: C0432221
Disease: Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, 'corner fracture' type 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and Injuries 0.800 1.000 1 2017 2017
dbSNP: rs1553667072
rs1553667072 		0.882 0.200 2 215433372 missense variant A/G snv
CUI: C0432221
Disease: Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, 'corner fracture' type 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and Injuries 0.800 1.000 1 2017 2017
dbSNP: rs1553667072
rs1553667072 		0.882 0.200 2 215433372 missense variant A/G snv
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
Lattice corneal dystrophy Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1553669703
rs1553669703 		0.925 0.160 2 215434713 missense variant C/A snv
CUI: C0432221
Disease: Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, 'corner fracture' type 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and Injuries 0.800 1.000 1 2017 2017
dbSNP: rs17517928
rs17517928 		1.000 0.040 2 215426636 intron variant C/T snv 0.24
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs6707530
rs6707530 		2 215375861 intron variant T/C;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs940739
rs940739 		1.000 0.040 2 215391428 intron variant T/A snv 0.32
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		Musculoskeletal Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1064795155
rs1064795155 		1.000 0.080 2 215428331 missense variant G/C snv
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1553658926
rs1553658926 		0.925 0.160 2 215428246 missense variant A/C snv
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1553659131
rs1553659131 		0.925 0.160 2 215428306 missense variant A/C snv
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1553667072
rs1553667072 		0.882 0.200 2 215433372 missense variant A/G snv
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0