COL9A2, collagen type IX alpha 2 chain, 1298

N. diseases: 116; N. variants: 10
Disease: Lumbar disc disease ×
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: rs7533552
rs7533552 		0.882 0.160 1 40307477 missense variant T/A;C;G snv
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.030 0.333 3 2014 2018
dbSNP: rs12077871
rs12077871 		0.925 0.160 1 40307478 stop gained G/A;T snv 3.1E-02; 4.0E-06
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.020 < 0.001 2 2014 2018
dbSNP: rs12722877
rs12722877 		0.925 0.160 1 40307451 missense variant G/A;C snv
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.020 < 0.001 2 2014 2018