COL11A2, collagen type XI alpha 2 chain, 1302

N. diseases: 399; N. variants: 37
Disease: Stickler syndrome, type 3 ×
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: rs121912946
rs121912946 		0.925 0.160 6 33166736 missense variant C/T snv
CUI: C1861481
Disease: Stickler syndrome, type 3
Stickler syndrome, type 3 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs121912950
rs121912950 		0.925 0.200 6 33167305 stop gained G/A snv
CUI: C1861481
Disease: Stickler syndrome, type 3
Stickler syndrome, type 3 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs750995470
rs750995470 		1.000 0.080 6 33166512 splice donor variant C/T snv 1.2E-05
CUI: C1861481
Disease: Stickler syndrome, type 3
Stickler syndrome, type 3 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs864309477
rs864309477 		1.000 0.080 6 33172580 inframe deletion GCCCCGGGGGGCCTGGGTGACCTCTCT/- del
CUI: C1861481
Disease: Stickler syndrome, type 3
Stickler syndrome, type 3 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0