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: 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: rs16868943
rs16868943 		1.000 0.040 6 33179950 intron variant G/A snv 2.9E-02
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.010 < 0.001 1 2018 2018
dbSNP: rs16868943
rs16868943 		1.000 0.040 6 33179950 intron variant G/A snv 2.9E-02
CUI: C0231749
Disease: Knee pain
Knee pain 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs16868943
rs16868943 		1.000 0.040 6 33179950 intron variant G/A snv 2.9E-02
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		Musculoskeletal Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs2071025
rs2071025 		6 33175979 intron variant A/G snv 0.28 0.29
CUI: C0023895
Disease: Liver diseases
Liver diseases 		Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2076311
rs2076311 		1.000 0.120 6 33177592 intron variant C/A snv 0.32
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2010 2010
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: 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: rs2855429
rs2855429 		0.925 0.120 6 33190412 intron variant A/C snv 0.78
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2855429
rs2855429 		0.925 0.120 6 33190412 intron variant A/C snv 0.78
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
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: 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: 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
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: rs984755949
rs984755949 		1.000 0.080 6 33172302 missense variant A/C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2011 2018
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: rs1487152821
rs1487152821 		1.000 0.080 6 33180274 missense variant G/A snv 7.0E-06
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.020 1.000 2 2015 2015
dbSNP: rs776761577
rs776761577 		1.000 0.040 6 33179444 missense variant C/A;T snv 2.9E-05
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.020 1.000 2 2010 2011
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: rs1031245702
rs1031245702 		1.000 0.080 6 33171534 missense variant A/G snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010