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: rs112728248
rs112728248 		0.925 0.160 15 48448812 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 0.800 1.000 18 1973 2017
dbSNP: rs113544411
rs113544411 		0.925 0.160 15 48421652 stop gained G/A;C;T snv 1.2E-05
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 17 1996 2017
dbSNP: rs111929350
rs111929350 		1.000 0.160 15 48452603 missense variant C/A;G;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 0.800 1.000 12 1996 2017
dbSNP: rs111588631
rs111588631 		1.000 0.160 15 48428391 missense variant A/G snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 10 1996 2017
dbSNP: rs112375043
rs112375043 		0.925 0.160 15 48472594 stop gained G/A;C;T snv 3.6E-05 1.4E-05
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 10 1996 2017
dbSNP: rs112660651
rs112660651 		0.925 0.160 15 48610808 missense variant C/A;G;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 0.800 1.000 10 1996 2017
dbSNP: rs141133182
rs141133182 		1.000 0.160 15 48415735 stop gained C/A;T snv 2.1E-04
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 10 1996 2017
dbSNP: rs111984349
rs111984349 		0.763 0.200 15 48415759 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 0.800 1.000 7 1999 2014
dbSNP: rs25403
rs25403 		0.882 0.200 15 48613073 missense variant G/A snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 7 2002 2016
dbSNP: rs137854480
rs137854480 		0.742 0.200 15 48537629 missense variant G/A snv
CUI: C3541518
Disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT 		0.800 1.000 6 1994 2012
dbSNP: rs112836174
rs112836174 		0.925 0.160 15 48430791 missense variant A/G;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 0.800 1.000 5 2002 2009
dbSNP: rs137854464
rs137854464 		0.851 0.200 15 48425483 missense variant C/T snv 7.0E-06
CUI: C3541518
Disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT 		0.800 1.000 5 1994 2007
dbSNP: rs1036476
rs1036476 		1.000 0.040 15 48622578 intron variant T/C snv 7.5E-02
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.800 1.000 1 2011 2011
dbSNP: rs111401431
rs111401431 		0.763 0.200 15 48468097 missense variant G/A snv
CUI: C3541518
Disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT 		0.800 0
dbSNP: rs193922185
rs193922185 		0.752 0.200 15 48505037 missense variant G/A snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.710 1.000 8 1973 2017
dbSNP: rs397515812
rs397515812 		0.925 0.160 15 48468427 stop gained G/A;C snv 4.0E-06; 4.0E-06
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.710 1.000 5 2000 2015
dbSNP: rs794728334
rs794728334 		0.763 0.200 15 48437069 stop gained C/A;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 0.710 1.000 2 2019 2019
dbSNP: rs113393517
rs113393517 		1.000 0.160 15 48481660 missense variant C/A;G snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.710 1.000 1 2000 2000
dbSNP: rs113422242
rs113422242 		0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.710 1.000 1 2000 2000
dbSNP: rs137854478
rs137854478 		0.851 0.160 15 48488233 missense variant C/T snv
CUI: C4016054
Disease: Neonatal Marfan syndrome
Neonatal Marfan syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.710 1.000 1 2017 2017
dbSNP: rs794728249
rs794728249 		0.925 0.160 15 48437039 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 0.710 1.000 1 2010 2010
dbSNP: rs137854475
rs137854475 		0.882 0.200 15 48487155 missense variant C/T snv 1.3E-03 1.6E-03
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 30 1993 2017
dbSNP: rs113001196
rs113001196 		0.882 0.160 15 48432947 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 29 1986 2016
dbSNP: rs113001196
rs113001196 		0.882 0.160 15 48432947 stop gained G/A snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 29 1986 2016
dbSNP: rs113001196
rs113001196 		0.882 0.160 15 48432947 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 29 1986 2016