COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Disease: Degenerative polyarthritis ×
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: rs1034762
rs1034762 		1.000 0.040 12 47995860 intron variant A/C snv 0.74 0.79
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2070739
rs2070739 		1.000 0.040 12 47974193 missense variant C/T snv 0.16 1.0E-01
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2276454
rs2276454 		0.925 0.040 12 47982508 synonymous variant G/A snv 0.39 0.38
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs2276455
rs2276455 		1.000 0.040 12 47982354 intron variant G/A snv 0.38
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2009 2009
dbSNP: rs3737548
rs3737548 		1.000 0.040 12 47997633 synonymous variant G/A;T snv 8.1E-06; 0.21
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2009 2009