FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Marfan Syndrome ×
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: rs1060501029
rs1060501029 		0.925 0.160 15 48446909 intron variant T/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 0.700 1.000 1 2016 2016
dbSNP: rs1566915335
rs1566915335 		1.000 0.160 15 48510183 intron variant T/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 0.700 1.000 1 2019 2019
dbSNP: rs181681840
rs181681840 		1.000 0.160 15 48494269 intron variant G/A;T snv 7.7E-04; 2.0E-05 3.2E-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 0
dbSNP: rs140603
rs140603 		0.925 0.160 15 48503845 stop gained G/A;C;T snv 7.6E-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 37 1993 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: 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: 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: rs111231312
rs111231312 		0.925 0.160 15 48468070 stop gained 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 0.700 1.000 9 2001 2015
dbSNP: rs113001196
rs113001196 		0.882 0.160 15 48432947 stop gained 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 0.700 1.000 7 2001 2018
dbSNP: rs794728228
rs794728228 		0.925 0.160 15 48468064 stop gained 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 0.700 1.000 7 1999 2013
dbSNP: rs113249837
rs113249837 		0.925 0.160 15 48456691 stop gained 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 0.700 1.000 6 2005 2016
dbSNP: rs140583
rs140583 		0.763 0.200 15 48495219 stop gained 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 0.700 1.000 6 1991 2015
dbSNP: rs193922183
rs193922183 		0.925 0.160 15 48510048 stop gained A/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 0.700 1.000 6 1973 2007
dbSNP: rs200309328
rs200309328 		0.925 0.160 15 48412715 stop gained G/A;C snv 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 0.700 1.000 6 2004 2016
dbSNP: rs727505006
rs727505006 		0.925 0.160 15 48487402 stop gained 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 0.700 1.000 6 2005 2012
dbSNP: rs113871094
rs113871094 		0.683 0.320 15 48465820 stop gained 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 0.700 1.000 5 2001 2011
dbSNP: rs140630
rs140630 		0.925 0.160 15 48465580 stop gained G/A;T snv 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 0.700 1.000 5 2001 2014
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: rs111687884
rs111687884 		0.925 0.160 15 48537704 stop gained G/A;C snv 1.6E-05
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 4 2001 2016
dbSNP: rs113905529
rs113905529 		0.925 0.160 15 48596328 stop gained G/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 0.700 1.000 4 2005 2015
dbSNP: rs397515848
rs397515848 		0.925 0.160 15 48427591 stop gained 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 0.700 1.000 4 1999 2016
dbSNP: rs794728165
rs794728165 		0.882 0.160 15 48520716 stop gained 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 0.700 1.000 4 2003 2015
dbSNP: rs113812345
rs113812345 		0.790 0.160 15 48513591 stop gained 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 0.700 1.000 3 2005 2016
dbSNP: rs137854466
rs137854466 		0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 3 1994 2002
dbSNP: rs137854476
rs137854476 		0.925 0.160 15 48513552 stop gained 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 0.700 1.000 3 1998 2016