FBN2, fibrillin 2, 2201

N. diseases: 211; N. variants: 42
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: rs1206843725
rs1206843725 		1.000 0.080 5 128338938 missense variant C/A snv
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 14 1973 2016
dbSNP: rs137852825
rs137852825 		1.000 0.080 5 128335544 missense variant C/T snv
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 10 1995 2016
dbSNP: rs137852826
rs137852826 		1.000 0.080 5 128395182 missense variant C/T snv
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 10 1995 2016
dbSNP: rs137852827
rs137852827 		1.000 0.080 5 128344385 missense variant C/G snv
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 10 1995 2016
dbSNP: rs137852828
rs137852828 		1.000 0.080 5 128338980 missense variant C/A snv 4.0E-06
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 10 1995 2016
dbSNP: rs1554123065
rs1554123065 		1.000 0.080 5 128338114 missense variant C/T snv
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 10 1995 2016
dbSNP: rs28931602
rs28931602 		1.000 0.080 5 128335543 missense variant A/C snv
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 10 1995 2016
dbSNP: rs794727560
rs794727560 		1.000 0.080 5 128332983 missense variant C/T snv
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 10 1995 2016
dbSNP: rs145259927
rs145259927 		1.000 0.080 5 128366419 missense variant C/T snv 1.5E-03 1.4E-03
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 9 1995 2016
dbSNP: rs1085307066
rs1085307066 		1.000 0.080 5 128274648 stop gained G/A snv
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 3 2001 2002
dbSNP: rs6595838
rs6595838 		5 128532506 intron variant G/A snv 0.41
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 3 2017 2019
dbSNP: rs154001
rs154001 		1.000 0.040 5 128349443 missense variant C/G;T snv 0.73
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2019 2019
dbSNP: rs1057519321
rs1057519321 		0.807 0.160 5 128349391 missense variant C/A;T snv
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1057519321
rs1057519321 		0.807 0.160 5 128349391 missense variant C/A;T snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2018 2018
dbSNP: rs1057519321
rs1057519321 		0.807 0.160 5 128349391 missense variant C/A;T snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1057519321
rs1057519321 		0.807 0.160 5 128349391 missense variant C/A;T snv
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2018 2018
dbSNP: rs145085279
rs145085279 		5 128342769 intron variant C/A snv 4.4E-02
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs145085279
rs145085279 		5 128342769 intron variant C/A snv 4.4E-02
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs147450666
rs147450666 		5 128619201 intron variant G/A;T snv
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs147450666
rs147450666 		5 128619201 intron variant G/A;T snv
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs149281955
rs149281955 		5 128491563 intron variant C/T snv 3.3E-03
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs149281955
rs149281955 		5 128491563 intron variant C/T snv 3.3E-03
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs154001
rs154001 		1.000 0.040 5 128349443 missense variant C/G;T snv 0.73
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs154001
rs154001 		1.000 0.040 5 128349443 missense variant C/G;T snv 0.73
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs1554123136
rs1554123136 		1.000 0.080 5 128338932 splice donor variant C/T snv
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2002 2002