SERPINF1, serpin family F member 1, 5176

N. diseases: 294; N. variants: 15
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: rs1136287
rs1136287 		0.790 0.280 17 1769982 missense variant C/T snv 0.61 0.69
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs34386380
rs34386380 		17 1765144 intron variant TT/-;T;TTT;TTTT;TTTTTTTTTTTT delins
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs62088172
rs62088172 		17 1762959 intron variant C/T snv 0.31
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs193302872
rs193302872 		1.000 0.120 17 1775110 stop gained C/G snv
CUI: C3279564
Disease: Osteogenesis Imperfecta, Type VI
Osteogenesis Imperfecta, Type VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs193302873
rs193302873 		1.000 0.120 17 1777321 stop gained C/G;T snv
CUI: C3279564
Disease: Osteogenesis Imperfecta, Type VI
Osteogenesis Imperfecta, Type VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs398122518
rs398122518 		1.000 0.120 17 1769885 frameshift variant TG/- delins
CUI: C3279564
Disease: Osteogenesis Imperfecta, Type VI
Osteogenesis Imperfecta, Type VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs398122519
rs398122519 		1.000 0.120 17 1762114 splice donor variant -/T delins
CUI: C3279564
Disease: Osteogenesis Imperfecta, Type VI
Osteogenesis Imperfecta, Type VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs398122520
rs398122520 		1.000 0.120 17 1775067 frameshift variant T/- del
CUI: C3279564
Disease: Osteogenesis Imperfecta, Type VI
Osteogenesis Imperfecta, Type VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs869312908
rs869312908 		1.000 0.120 17 1777334 frameshift variant CCCGCTGGACTATCACCTT/- delins
CUI: C3279564
Disease: Osteogenesis Imperfecta, Type VI
Osteogenesis Imperfecta, Type VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1136287
rs1136287 		0.790 0.280 17 1769982 missense variant C/T snv 0.61 0.69
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.060 1.000 6 2005 2018
dbSNP: rs1136287
rs1136287 		0.790 0.280 17 1769982 missense variant C/T snv 0.61 0.69
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2009 2011
dbSNP: rs1136287
rs1136287 		0.790 0.280 17 1769982 missense variant C/T snv 0.61 0.69
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.020 1.000 2 2009 2012
dbSNP: rs1136287
rs1136287 		0.790 0.280 17 1769982 missense variant C/T snv 0.61 0.69
CUI: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		Eye Diseases 0.020 1.000 2 2009 2012
dbSNP: rs12150053
rs12150053 		1.000 0.120 17 1761175 upstream gene variant T/A;C snv
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.020 0.500 2 2007 2009
dbSNP: rs12948385
rs12948385 		1.000 0.120 17 1761607 upstream gene variant G/A snv 0.26
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.020 0.500 2 2007 2009
dbSNP: rs1136287
rs1136287 		0.790 0.280 17 1769982 missense variant C/T snv 0.61 0.69
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1136287
rs1136287 		0.790 0.280 17 1769982 missense variant C/T snv 0.61 0.69
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1136287
rs1136287 		0.790 0.280 17 1769982 missense variant C/T snv 0.61 0.69
CUI: C3888896
Disease: Wet age-related macular degeneration
Wet age-related macular degeneration 		0.010 1.000 1 2008 2008
dbSNP: rs12603825
rs12603825 		1.000 0.040 17 1770111 intron variant G/A;T snv
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1418184396
rs1418184396 		1.000 0.040 17 1776722 missense variant C/T snv 4.0E-06
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		Cardiovascular Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs1894286
rs1894286 		1.000 0.040 17 1773615 intron variant C/T snv 0.11
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2018 2018
dbSNP: rs9913583
rs9913583 		0.925 0.120 17 1762036 5 prime UTR variant C/A snv 6.6E-02
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs9913583
rs9913583 		0.925 0.120 17 1762036 5 prime UTR variant C/A snv 6.6E-02
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2007 2007