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: rs1555393647
rs1555393647
1.000 15 48412588 frameshift variant -/T delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 29 1986 2016
dbSNP: rs1156984408
rs1156984408
1.000 15 48481682 missense variant C/T snv 4.0E-06 2.1E-05
Familial thoracic aortic aneurysm and aortic dissection
0.700 1.000 2 2014 2019
dbSNP: rs1018148
rs1018148
15 48610929 intron variant A/G;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2019 2019
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: rs1566891701
rs1566891701
1.000 15 48421675 missense variant A/G snv
Familial thoracic aortic aneurysm and aortic dissection
0.700 1.000 1 2019 2019
dbSNP: rs1678981
rs1678981
15 48607900 intron variant C/T snv 7.7E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2017 2017
dbSNP: rs17361868
rs17361868
15 48504949 intron variant C/T snv 4.7E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs4775769
rs4775769
15 48647691 intron variant T/G snv 0.93
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2019 2019
dbSNP: rs4775769
rs4775769
15 48647691 intron variant T/G snv 0.93
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs545317462
rs545317462
15 48530561 intron variant TT/-;T;TTT;TTTT;TTTTT delins
CUI: C0040420
Disease: Tonometry
Tonometry
0.700 1.000 1 2018 2018
dbSNP: rs627634
rs627634
15 48587094 intron variant C/T snv 7.7E-02
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption
Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs668842
rs668842
15 48599768 intron variant C/T snv 0.48
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs686861
rs686861
15 48592808 intron variant A/G snv 9.1E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2018 2018
dbSNP: rs686861
rs686861
15 48592808 intron variant A/G snv 9.1E-02
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption
Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs764203302
rs764203302
1.000 15 48452612 missense variant C/T snv 7.0E-06
Familial thoracic aortic aneurysm and aortic dissection
0.700 1.000 1 2019 2019
dbSNP: rs76610457
rs76610457
15 48456447 intron variant T/A snv 1.3E-02
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs8030753
rs8030753
15 48509738 intron variant C/T snv 0.15
CUI: C1720164
Disease: Central corneal thickness
Central corneal thickness
0.700 1.000 1 2018 2018
dbSNP: rs1555398830
rs1555398830
1.000 15 48490037 stop gained C/A snv
Familial thoracic aortic aneurysm and aortic dissection
0.700 0
dbSNP: rs1555401011
rs1555401011
1.000 15 48526207 missense variant C/T snv
Familial thoracic aortic aneurysm and aortic dissection
0.700 0
dbSNP: rs1566888718
rs1566888718
1.000 15 48411315 frameshift variant GATGGCTGTCTTCTCAA/- delins
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME
0.700 0
dbSNP: rs1566892872
rs1566892872
1.000 15 48425770 stop gained G/C snv
Familial thoracic aortic aneurysm and aortic dissection
0.700 0
dbSNP: rs1566898120
rs1566898120
1.000 15 48444614 frameshift variant G/- delins
Familial thoracic aortic aneurysm and aortic dissection
0.700 0
dbSNP: rs1566900492
rs1566900492
1.000 15 48452602 frameshift variant CA/- delins
Familial thoracic aortic aneurysm and aortic dissection
0.700 0
dbSNP: rs1566900540
rs1566900540
1.000 15 48452686 splice acceptor variant T/C snv
Familial thoracic aortic aneurysm and aortic dissection
0.700 0
dbSNP: rs1566903914
rs1566903914
1.000 15 48465582 frameshift variant -/T delins
Familial thoracic aortic aneurysm and aortic dissection
0.700 0