COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
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: rs72648337
rs72648337 		1.000 0.120 17 50194840 intron variant C/T snv 7.0E-06
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 7 1998 2017
dbSNP: rs2075555
rs2075555 		0.807 0.240 17 50196930 intron variant T/A;G snv
CUI: C0271183
Disease: Severe myopia
Severe myopia 		Eye Diseases 0.040 0.500 4 2007 2011
dbSNP: rs2269336
rs2269336 		1.000 0.040 17 50202995 intron variant G/A;C snv
CUI: C0271183
Disease: Severe myopia
Severe myopia 		Eye Diseases 0.030 0.667 3 2007 2011
dbSNP: rs2075555
rs2075555 		0.807 0.240 17 50196930 intron variant T/A;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.710 0.500 2 2007 2011
dbSNP: rs2075555
rs2075555 		0.807 0.240 17 50196930 intron variant T/A;G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.710 0.500 2 2007 2011
dbSNP: rs1107946
rs1107946 		1.000 0.040 17 50203629 intron variant A/C snv 0.80
CUI: C0271183
Disease: Severe myopia
Severe myopia 		Eye Diseases 0.010 1.000 1 2007 2007
dbSNP: rs11327935
rs11327935 		1.000 0.040 17 50203295 intron variant AA/-;A;AAA delins 0.18
CUI: C0029899
Disease: Otosclerosis
Otosclerosis 		Otorhinolaryngologic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1800012
rs1800012 		0.763 0.320 17 50200388 intron variant C/A snv 0.14
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome 		Nervous System Diseases; Wounds and Injuries 0.010 1.000 1 2016 2016
dbSNP: rs1800012
rs1800012 		0.763 0.320 17 50200388 intron variant C/A snv 0.14
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1800012
rs1800012 		0.763 0.320 17 50200388 intron variant C/A snv 0.14
CUI: C0012819
Disease: Diverticular disease of colon
Diverticular disease of colon 		Digestive System Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs1800012
rs1800012 		0.763 0.320 17 50200388 intron variant C/A snv 0.14
CUI: C0033377
Disease: Ptosis
Ptosis 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2015 2015
dbSNP: rs1800012
rs1800012 		0.763 0.320 17 50200388 intron variant C/A snv 0.14
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1800012
rs1800012 		0.763 0.320 17 50200388 intron variant C/A snv 0.14
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1800012
rs1800012 		0.763 0.320 17 50200388 intron variant C/A snv 0.14
CUI: C0158266
Disease: Intervertebral Disc Degeneration
Intervertebral Disc Degeneration 		Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1800012
rs1800012 		0.763 0.320 17 50200388 intron variant C/A snv 0.14
CUI: C0231528
Disease: Myalgia
Myalgia 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1800012
rs1800012 		0.763 0.320 17 50200388 intron variant C/A snv 0.14
CUI: C0521170
Disease: Osteoporotic Fractures
Osteoporotic Fractures 		Wounds and Injuries 0.010 1.000 1 2019 2019
dbSNP: rs1800012
rs1800012 		0.763 0.320 17 50200388 intron variant C/A snv 0.14
CUI: C0039516
Disease: Tennis Elbow
Tennis Elbow 		Musculoskeletal Diseases; Wounds and Injuries 0.010 1.000 1 2017 2017
dbSNP: rs1800012
rs1800012 		0.763 0.320 17 50200388 intron variant C/A snv 0.14
CUI: C1510475
Disease: Diverticulosis
Diverticulosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1800012
rs1800012 		0.763 0.320 17 50200388 intron variant C/A snv 0.14
CUI: C0042025
Disease: Urinary Stress Incontinence
Urinary Stress Incontinence 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2075555
rs2075555 		0.807 0.240 17 50196930 intron variant T/A;G snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2075555
rs2075555 		0.807 0.240 17 50196930 intron variant T/A;G snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2075555
rs2075555 		0.807 0.240 17 50196930 intron variant T/A;G snv
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs2075559
rs2075559 		0.882 0.040 17 50189930 intron variant G/A;C;T snv 0.52; 4.0E-06
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2075559
rs2075559 		0.882 0.040 17 50189930 intron variant G/A;C;T snv 0.52; 4.0E-06
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2075559
rs2075559 		0.882 0.040 17 50189930 intron variant G/A;C;T snv 0.52; 4.0E-06
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 1.000 1 2014 2014