COL11A2, collagen type XI alpha 2 chain, 1302

N. diseases: 399; N. variants: 37
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: rs121912952
rs121912952 		1.000 0.120 6 33178143 missense variant G/T snv 9.0E-05 5.6E-05
CUI: C1864746
Disease: Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 53 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 2 2005 2015
dbSNP: rs864309523
rs864309523 		1.000 0.120 6 33173522 missense variant G/T snv
CUI: C1864746
Disease: Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 53 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 2 2005 2015
dbSNP: rs121912947
rs121912947 		1.000 0.120 6 33171763 missense variant G/A snv
CUI: C1866095
Disease: Deafness, Autosomal Dominant 13
Deafness, Autosomal Dominant 13 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 1999 1999
dbSNP: rs121912948
rs121912948 		1.000 0.120 6 33174534 missense variant C/T snv
CUI: C1866095
Disease: Deafness, Autosomal Dominant 13
Deafness, Autosomal Dominant 13 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 1999 1999
dbSNP: rs2254287
rs2254287 		1.000 0.040 6 33176171 intron variant C/A;G;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 1 2008 2008
dbSNP: rs606231410
rs606231410 		0.925 0.120 6 33189443 missense variant C/A;T snv 4.1E-06
CUI: C1864746
Disease: Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 53 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 0
dbSNP: rs797044915
rs797044915 		1.000 6 33176015 splice donor variant C/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 17 1975 2012
dbSNP: rs797044915
rs797044915 		1.000 6 33176015 splice donor variant C/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 17 1975 2012
dbSNP: rs121912946
rs121912946 		0.925 0.160 6 33166736 missense variant C/T snv
CUI: C1848488
Disease: Pierre Robin syndrome with fetal chondrodysplasia
Pierre Robin syndrome with fetal chondrodysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 3 1995 1998
dbSNP: rs986521
rs986521 		1.000 0.120 6 33168368 intron variant G/A;C snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs1050673
rs1050673 		6 33193884 3 prime UTR variant A/C;G;T snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs121912950
rs121912950 		0.925 0.200 6 33167305 stop gained G/A snv
CUI: C1866095
Disease: Deafness, Autosomal Dominant 13
Deafness, Autosomal Dominant 13 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2004 2004
dbSNP: rs144092339
rs144092339 		6 33192440 5 prime UTR variant C/T snv 2.9E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2229790
rs2229790 		6 33164453 missense variant C/G snv 1.1E-03 6.7E-04
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs2254287
rs2254287 		1.000 0.040 6 33176171 intron variant C/A;G;T snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2254287
rs2254287 		1.000 0.040 6 33176171 intron variant C/A;G;T snv
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2008 2008
dbSNP: rs2269346
rs2269346 		1.000 0.120 6 33191121 intron variant C/T snv 8.8E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs2855430
rs2855430 		1.000 0.120 6 33173503 missense variant G/A snv 0.12 9.9E-02
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs606231410
rs606231410 		0.925 0.120 6 33189443 missense variant C/A;T snv 4.1E-06
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs9368758
rs9368758 		1.000 0.120 6 33170244 intron variant G/A snv 9.0E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2009 2009
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: 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: 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: 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