GDF5, growth differentiation factor 5, 8200

N. diseases: 238; N. variants: 24
Disease: Brachydactyly type C ×
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: rs28936397
rs28936397 		1.000 0.080 20 35437412 missense variant T/C;G snv 8.0E-06; 4.0E-06
CUI: C1862103
Disease: Brachydactyly type C
Brachydactyly type C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 4 2004 2015
dbSNP: rs121909348
rs121909348 		1.000 0.080 20 35433954 stop gained A/C snv
CUI: C1862103
Disease: Brachydactyly type C
Brachydactyly type C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs74315386
rs74315386 		1.000 0.080 20 35434514 stop gained G/A snv
CUI: C1862103
Disease: Brachydactyly type C
Brachydactyly type C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs886039878
rs886039878 		1.000 0.080 20 35434018 missense variant C/T snv
CUI: C1862103
Disease: Brachydactyly type C
Brachydactyly type C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs368375586
rs368375586 		1.000 0.080 20 35434459 missense variant C/A;T snv 6.1E-05
CUI: C1862103
Disease: Brachydactyly type C
Brachydactyly type C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2015 2015