COL9A2, collagen type IX alpha 2 chain, 1298

N. diseases: 116; N. variants: 10
Disease: Intervertebral disc disorder ×
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: rs137853213
rs137853213 		1 40307477 missense variant TG/CA mnv
CUI: C0158252
Disease: Intervertebral disc disorder
Intervertebral disc disorder 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.700 1.000 1 1999 1999
dbSNP: rs2228564
rs2228564 		1 40307477 missense variant T/A;C;G snv 0.30
CUI: C0158252
Disease: Intervertebral disc disorder
Intervertebral disc disorder 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs879373188
rs879373188 		1 40307477 frameshift variant TG/A;C delins
CUI: C0158252
Disease: Intervertebral disc disorder
Intervertebral disc disorder 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.010 1.000 1 2016 2016