COL11A2, collagen type XI alpha 2 chain, 1302

N. diseases: 399; N. variants: 37
Disease: Otospondylomegaepiphyseal dysplasia ×
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: rs121912945
rs121912945 		1.000 0.120 6 33177216 missense variant C/G;T snv 4.1E-06; 8.1E-06
CUI: C4520892
Disease: Otospondylomegaepiphyseal dysplasia
Otospondylomegaepiphyseal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.800 1.000 2 1995 2000
dbSNP: rs121912949
rs121912949 		1.000 0.120 6 33174048 stop gained G/A;T snv 7.2E-05
CUI: C4520892
Disease: Otospondylomegaepiphyseal dysplasia
Otospondylomegaepiphyseal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121912951
rs121912951 		1.000 0.120 6 33167822 stop gained G/A snv 1.4E-05
CUI: C4520892
Disease: Otospondylomegaepiphyseal dysplasia
Otospondylomegaepiphyseal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1562315748
rs1562315748 		1.000 0.120 6 33167851 splice acceptor variant C/- delins
CUI: C4520892
Disease: Otospondylomegaepiphyseal dysplasia
Otospondylomegaepiphyseal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0