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: 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: rs6707530
rs6707530 		2 215375861 intron variant T/C;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs6728999
rs6728999 		2 215370323 missense variant C/A;G;T snv 4.0E-06; 8.6E-03
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
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: rs1250259
rs1250259 		1.000 0.040 2 215435759 missense variant T/A snv 0.76 0.79
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 2 2019 2019
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: rs1250259
rs1250259 		1.000 0.040 2 215435759 missense variant T/A snv 0.76 0.79
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1250259
rs1250259 		1.000 0.040 2 215435759 missense variant T/A snv 0.76 0.79
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs1250259
rs1250259 		1.000 0.040 2 215435759 missense variant T/A snv 0.76 0.79
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1250259
rs1250259 		1.000 0.040 2 215435759 missense variant T/A snv 0.76 0.79
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2019 2019
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: 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: 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
dbSNP: rs1418810723
rs1418810723 		0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.030 1.000 3 2007 2016
dbSNP: rs1418810723
rs1418810723 		0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.020 1.000 2 2006 2011
dbSNP: rs1418810723
rs1418810723 		0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 1.000 2 2007 2011
dbSNP: rs530514393
rs530514393 		1.000 0.080 2 215408367 missense variant T/A;C snv 2.2E-04; 4.0E-06
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.020 1.000 2 1997 2012
dbSNP: rs80101897
rs80101897 		1.000 0.080 2 215399334 missense variant T/C snv 4.0E-06 2.1E-05
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.020 1.000 2 1997 2012
dbSNP: rs1418810723
rs1418810723 		0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2011 2011