GDF5, growth differentiation factor 5, 8200

N. diseases: 238; N. variants: 24
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: rs397514668
rs397514668 		1.000 0.080 20 35434276 missense variant C/T snv 4.0E-06
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 3 2005 2012
dbSNP: rs121909347
rs121909347 		1.000 0.080 20 35433991 missense variant C/T snv
CUI: C1832708
Disease: MULTIPLE SYNOSTOSES SYNDROME 2
MULTIPLE SYNOSTOSES SYNDROME 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 4 2006 2013
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: rs74315388
rs74315388 		0.882 0.080 20 35434102 missense variant C/A;T snv
CUI: C1832708
Disease: MULTIPLE SYNOSTOSES SYNDROME 2
MULTIPLE SYNOSTOSES SYNDROME 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 4 2006 2013
dbSNP: rs121909349
rs121909349 		0.882 0.040 20 35434297 missense variant A/C snv
CUI: C3809104
Disease: SYMPHALANGISM, PROXIMAL, 1B
SYMPHALANGISM, PROXIMAL, 1B 		0.800 1.000 3 2005 2008
dbSNP: rs121909350
rs121909350 		1.000 0.080 20 35434282 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C1856738
Disease: Fibular hypoplasia and complex brachydactyly
Fibular hypoplasia and complex brachydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 3 2002 2008
dbSNP: rs121909351
rs121909351 		1.000 0.080 20 35434109 missense variant G/T snv
CUI: C1856738
Disease: Fibular hypoplasia and complex brachydactyly
Fibular hypoplasia and complex brachydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 3 2002 2008
dbSNP: rs74315388
rs74315388 		0.882 0.080 20 35434102 missense variant C/A;T snv
CUI: C3809104
Disease: SYMPHALANGISM, PROXIMAL, 1B
SYMPHALANGISM, PROXIMAL, 1B 		0.800 1.000 3 2005 2008
dbSNP: rs74315389
rs74315389 		0.925 0.080 20 35433944 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C3809104
Disease: SYMPHALANGISM, PROXIMAL, 1B
SYMPHALANGISM, PROXIMAL, 1B 		0.800 1.000 3 2005 2008
dbSNP: rs397514519
rs397514519 		0.925 0.080 20 35434220 missense variant G/A snv 4.0E-06
CUI: C3554446
Disease: BRACHYDACTYLY, TYPE A1, C
BRACHYDACTYLY, TYPE A1, C 		0.800 1.000 2 2010 2013
dbSNP: rs74315387
rs74315387 		1.000 0.080 20 35434216 stop gained C/T snv
CUI: C0265260
Disease: Chondrodysplasia, Grebe type
Chondrodysplasia, Grebe type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 1997 1997
dbSNP: rs28936683
rs28936683 		0.882 0.080 20 35434093 missense variant A/G snv 7.0E-06
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 0
dbSNP: rs28936683
rs28936683 		0.882 0.080 20 35434093 missense variant A/G snv 7.0E-06
CUI: C1856738
Disease: Fibular hypoplasia and complex brachydactyly
Fibular hypoplasia and complex brachydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 0
dbSNP: rs143383
rs143383 		0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		Musculoskeletal Diseases 0.760 1.000 8 2011 2019
dbSNP: rs143384
rs143384 		0.827 0.200 20 35437976 5 prime UTR variant G/A snv 0.44
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 5 2010 2019
dbSNP: rs143384
rs143384 		0.827 0.200 20 35437976 5 prime UTR variant G/A snv 0.44
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		Musculoskeletal Diseases 0.700 1.000 2 2018 2019
dbSNP: rs143384
rs143384 		0.827 0.200 20 35437976 5 prime UTR variant G/A snv 0.44
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 2 2019 2019
dbSNP: rs143384
rs143384 		0.827 0.200 20 35437976 5 prime UTR variant G/A snv 0.44
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 2 2018 2019
dbSNP: rs224333
rs224333 		20 35436182 intron variant A/G snv 0.47
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2013 2019
dbSNP: rs143383
rs143383 		0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs143383
rs143383 		0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2008 2008
dbSNP: rs143384
rs143384 		0.827 0.200 20 35437976 5 prime UTR variant G/A snv 0.44
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs143384
rs143384 		0.827 0.200 20 35437976 5 prime UTR variant G/A snv 0.44
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2010 2010
dbSNP: rs143384
rs143384 		0.827 0.200 20 35437976 5 prime UTR variant G/A snv 0.44
CUI: C0005910
Disease: Body Weight
Body Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2017 2017
dbSNP: rs143384
rs143384 		0.827 0.200 20 35437976 5 prime UTR variant G/A snv 0.44
CUI: C0562350
Disease: Hip circumference
Hip circumference 		0.700 1.000 1 2015 2015