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: rs137854461
rs137854461
1.000 0.143 15 48437026 missense variant T/C snp
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases 0.820 1.000 9 1993 2017
dbSNP: rs137854467
rs137854467
0.821 0.214 15 48600217 missense variant G/A snp
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases 0.810 1.000 7 1994 2017
dbSNP: rs137854478
rs137854478
0.923 0.143 15 48488233 missense variant C/T snp
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases 0.810 1.000 4 1995 2017
dbSNP: rs137854462
rs137854462
1.000 0.143 15 48510115 missense variant T/A snp
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases 0.810 1.000 3 1992 2000
dbSNP: rs111401431
rs111401431
0.756 0.179 15 48468097 missense variant G/A snp
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases 0.800 16 2000 2017
dbSNP: rs140593
rs140593
1.000 0.143 15 48489896 missense variant C/G,T snp
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases 0.800 16 1995 2017
dbSNP: rs137854480
rs137854480
0.744 0.179 15 48537629 missense variant G/A snp
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases 0.800 14 1995 2017
dbSNP: rs140603
rs140603
1.000 0.143 15 48503845 stop gained G/A,C,T snp 7.6E-04 2.6E-03
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases 0.800 10 2000 2017
dbSNP: rs111984349
rs111984349
1.000 0.143 15 48415759 missense variant C/T snp
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases 0.800 9 1999 2017
dbSNP: rs112728248
rs112728248
1.000 0.143 15 48448812 missense variant C/T snp
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases 0.800 9 1973 2017
dbSNP: rs140592
rs140592
1.000 0.143 15 48489947 stop lost A/G snp 3.2E-05
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases 0.800 7 1998 2017
dbSNP: rs111929350
rs111929350
1.000 0.143 15 48452603 missense variant C/G,T snp
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases 0.800 6 2000 2017
dbSNP: rs113544411
rs113544411
1.000 0.143 15 48421652 synonymous variant G/A snp 1.2E-05
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases 0.800 5 2000 2017
dbSNP: rs25403
rs25403
0.923 0.179 15 48613073 missense variant G/A snp
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases 0.800 5 2002 2015
dbSNP: rs137854469
rs137854469
1.000 0.143 15 48485418 missense variant C/A,T snp
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases 0.800 4 1993 2014
dbSNP: rs363853
rs363853
1.000 0.143 15 48596292 stop lost A/G snp
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases 0.800 4 2000 2013
dbSNP: rs137854457
rs137854457
1.000 0.143 15 48428423 stop gained C/G,T snp
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases 0.800 3 1992 2013
dbSNP: rs140599
rs140599
1.000 0.143 15 48487317 missense variant C/T snp
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases 0.800 3 1996 2017
dbSNP: rs141133182
rs141133182
1.000 0.143 15 48415735 missense variant C/A,T snp 2.1E-04 9.6E-05
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases 0.800 3 2001 2017
dbSNP: rs112375043
rs112375043
1.000 0.143 15 48472594 missense variant G/A snp 3.6E-05
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases 0.800 2 2014 2017
dbSNP: rs112660651
rs112660651
1.000 0.143 15 48610808 missense variant C/A,G,T snp
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases 0.800 2 2001 2017
dbSNP: rs137854463
rs137854463
1.000 0.143 15 48497391 missense variant T/G snp
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases 0.800 2 1992 1993
dbSNP: rs137854470
rs137854470
1.000 0.143 15 48487425 missense variant C/T snp
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases 0.800 2 1994 2004
dbSNP: rs1036476
rs1036476
1.000 0.036 15 48622578 intron variant T/C snp 7.0E-02
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic
Cardiovascular Diseases 0.800 1 2011 2011
dbSNP: rs137854458
rs137854458
1.000 0.143 15 48483910 missense variant C/G snp
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases 0.800 1 1993 1993