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: 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: rs370103949
rs370103949 		1.000 0.120 2 215406438 missense variant G/A;T snv 2.0E-05; 4.0E-06
CUI: C0268398
Disease: Familial lichen amyloidosis
Familial lichen amyloidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
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: rs6725958
rs6725958 		1.000 0.040 2 215397898 intron variant A/C snv 0.61 0.61
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		Musculoskeletal Diseases 0.010 1.000 1 2014 2014
dbSNP: rs757231578
rs757231578 		1.000 0.080 2 215433387 missense variant A/C;T snv 2.8E-05
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs777763524
rs777763524 		1.000 0.040 2 215431961 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0012736
Disease: Dissecting aortic aneurysm
Dissecting aortic aneurysm 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
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