FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: 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: rs1085308004
rs1085308004 		0.807 0.240 15 48425420 missense variant A/G snv
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs112550005
rs112550005 		0.742 0.240 15 48425829 stop gained G/A snv
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs113422242
rs113422242 		0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs113812345
rs113812345 		0.790 0.160 15 48513591 stop gained G/A snv
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1232880706
rs1232880706 		0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs137854461
rs137854461 		0.790 0.280 15 48437026 missense variant T/C snv
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs137854466
rs137854466 		0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs137854467
rs137854467 		0.790 0.280 15 48600217 missense variant G/A snv
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555398673
rs1555398673 		0.807 0.200 15 48488433 missense variant A/G snv
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1566911709
rs1566911709 		0.742 0.240 15 48495502 frameshift variant T/- delins
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1566913974
rs1566913974 		0.807 0.200 15 48505029 missense variant A/C snv
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs193922219
rs193922219 		0.763 0.280 15 48446701 splice region variant C/A;T snv
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs397515789
rs397515789 		0.776 0.240 15 48488112 splice donor variant C/A;T snv
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs397515804
rs397515804 		0.776 0.200 15 48472628 missense variant C/A;T snv
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs137854475
rs137854475 		0.882 0.200 15 48487155 missense variant C/T snv 1.3E-03 1.6E-03
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1994 1994