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: 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
dbSNP: rs1553669703
rs1553669703 		0.925 0.160 2 215434713 missense variant C/A snv
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1559604072
rs1559604072 		1.000 0.080 2 215430762 missense variant C/T snv
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1559609410
rs1559609410 		1.000 0.080 2 215431874 missense variant C/T snv
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1559616744
rs1559616744 		1.000 0.080 2 215433371 missense variant C/T snv
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs752106647
rs752106647 		1.000 0.080 2 215406406 missense variant C/T snv 8.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs869025198
rs869025198 		1.000 0.120 2 215376610 missense variant 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 0.700 0
dbSNP: rs869025199
rs869025199 		1.000 0.120 2 215386884 inframe deletion GAG/- delins
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 0.700 0
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: 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: rs1224741906
rs1224741906 		1.000 0.120 2 215408182 missense variant G/A snv 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: 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: 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: 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
dbSNP: rs1418810723
rs1418810723 		0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1418810723
rs1418810723 		0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs1418810723
rs1418810723 		0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1418810723
rs1418810723 		0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06
CUI: C0007097
Disease: Carcinoma
Carcinoma 		Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs1418810723
rs1418810723 		0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2011 2011