FBN2, fibrillin 2, 2201

N. diseases: 211; N. variants: 42
Disease: Congenital contractural arachnodactyly ×
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: 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: rs267606802
rs267606802 		1.000 0.080 5 128335525 missense variant A/T snv
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2012 2012
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: 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: 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
dbSNP: rs565227443
rs565227443 		1.000 0.080 5 128378884 missense variant T/A;C snv 4.0E-06 7.0E-06
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2019 2019
dbSNP: rs587776518
rs587776518 		1.000 0.080 5 128328823 splice acceptor variant T/A snv
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 1996 1996
dbSNP: rs1057519321
rs1057519321 		0.807 0.160 5 128349391 missense variant C/A;T snv
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1060503498
rs1060503498 		1.000 0.080 5 128332911 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 0
dbSNP: rs1060503510
rs1060503510 		1.000 0.080 5 128330612 missense variant A/G snv
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1060503511
rs1060503511 		1.000 0.080 5 128330633 missense variant G/T snv
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs138303817
rs138303817 		1.000 0.080 5 128338081 missense variant C/A;T snv 8.0E-06 7.0E-06
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554122802
rs1554122802 		0.742 0.160 5 128335170 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 0
dbSNP: rs1554122897
rs1554122897 		1.000 0.080 5 128335994 missense variant A/C snv
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554123139
rs1554123139 		1.000 0.080 5 128338941 inframe deletion TTC/- delins
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1561461125
rs1561461125 		1.000 0.080 5 128446608 splice acceptor variant T/C snv
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1561758622
rs1561758622 		1.000 0.080 5 128302968 splice region variant C/T snv
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs587776519
rs587776519 		1.000 0.080 5 128335592 intron variant T/C snv
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0