FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
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: rs1036477
rs1036477 		0.882 0.040 15 48622729 intron variant A/G snv 0.24
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1036477
rs1036477 		0.882 0.040 15 48622729 intron variant A/G snv 0.24
CUI: C0856747
Disease: Aneurysm of ascending aorta
Aneurysm of ascending aorta 		Respiratory Tract Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1036477
rs1036477 		0.882 0.040 15 48622729 intron variant A/G snv 0.24
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs10519177
rs10519177 		0.925 0.040 15 48464998 intron variant A/G snv 0.35
CUI: C0729233
Disease: Dissecting aneurysm of the thoracic aorta
Dissecting aneurysm of the thoracic aorta 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1057519320
rs1057519320 		0.807 0.160 15 48444574 missense variant G/A snv
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1057519320
rs1057519320 		0.807 0.160 15 48444574 missense variant G/A snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1057519320
rs1057519320 		0.807 0.160 15 48444574 missense variant G/A snv
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2018 2018
dbSNP: rs1057519320
rs1057519320 		0.807 0.160 15 48444574 missense variant G/A snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2018 2018
dbSNP: rs1057520131
rs1057520131 		0.925 0.240 15 48508633 missense variant A/C snv
CUI: C0015310
Disease: Exotropia
Exotropia 		Eye Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1057520131
rs1057520131 		0.925 0.240 15 48508633 missense variant A/C snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1064793118
rs1064793118 		1.000 0.160 15 48437038 missense variant C/T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1085307528
rs1085307528 		1.000 0.160 15 48508666 missense variant C/T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1131691804
rs1131691804 		0.807 0.200 15 48463123 missense variant G/A snv
CUI: C0013336
Disease: Dwarfism
Dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1131691804
rs1131691804 		0.807 0.200 15 48463123 missense variant G/A snv
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs11635140
rs11635140 		1.000 0.040 15 48490366 intron variant T/A;C snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs11856553
rs11856553 		15 48488010 intron variant G/A snv 4.3E-03
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs12916536
rs12916536 		1.000 0.160 15 48414374 intron variant A/G;T snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs137854464
rs137854464 		0.851 0.200 15 48425483 missense variant C/T snv 7.0E-06
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 1999 1999
dbSNP: rs137854467
rs137854467 		0.790 0.280 15 48600217 missense variant G/A snv
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs137854468
rs137854468 		0.851 0.160 15 48487396 missense variant C/T snv
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		Skin and Connective Tissue Diseases 0.010 1.000 1 2001 2001
dbSNP: rs137854468
rs137854468 		0.851 0.160 15 48487396 missense variant C/T snv
CUI: C0856747
Disease: Aneurysm of ascending aorta
Aneurysm of ascending aorta 		Respiratory Tract Diseases; Cardiovascular Diseases 0.010 1.000 1 1995 1995
dbSNP: rs137854468
rs137854468 		0.851 0.160 15 48487396 missense variant C/T snv
CUI: C1812607
Disease: Aortic aneurysm and dissection
Aortic aneurysm and dissection 		0.010 1.000 1 1995 1995
dbSNP: rs137854475
rs137854475 		0.882 0.200 15 48487155 missense variant C/T snv 1.3E-03 1.6E-03
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1994 1994
dbSNP: rs137854479
rs137854479 		0.925 0.200 15 48497298 missense variant T/C snv
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs137854480
rs137854480 		0.742 0.200 15 48537629 missense variant G/A snv
CUI: C1851286
Disease: Ectopia lentis isolated
Ectopia lentis isolated 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2007 2007