COL9A1, collagen type IX alpha 1 chain, 1297

N. diseases: 116; 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: rs761249181
rs761249181 		6 70252139 missense variant C/T snv 1.6E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2011 2011
dbSNP: rs6910140
rs6910140 		1.000 0.040 6 70234554 missense variant T/C;G snv 3.9E-02
CUI: C2745963
Disease: Kashin-Beck Disease
Kashin-Beck Disease 		Musculoskeletal Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1135056
rs1135056 		1.000 0.080 6 70252130 missense variant T/C snv 0.37 0.38
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs592121
rs592121 		1.000 0.080 6 70274733 missense variant A/G;T snv 0.40
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 < 0.001 1 2016 2016