CEP295NL, CEP295 N-terminal like, 100653515

N. diseases: 6; N. variants: 11
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: rs2376999
rs2376999 		17 78894782 intron variant A/G snv 0.28
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3744787
rs3744787 		17 78897589 non coding transcript exon variant A/G snv 0.28
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs3744790
rs3744790 		1.000 0.120 17 78897053 intron variant C/T snv 0.14
CUI: C0341106
Disease: Eosinophilic esophagitis
Eosinophilic esophagitis 		Digestive System Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs4789937
rs4789937 		17 78898598 non coding transcript exon variant A/G snv 0.97
CUI: C2700366
Disease: Adiponectin Measurement
Adiponectin Measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4789939
rs4789939 		0.925 0.120 17 78885621 intron variant T/A;C snv
CUI: C0013312
Disease: Dupuytren Contracture
Dupuytren Contracture 		Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2011 2011
dbSNP: rs4789939
rs4789939 		0.925 0.120 17 78885621 intron variant T/A;C snv
CUI: C4082974
Disease: Dupuytren's Disease
Dupuytren's Disease 		Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2011 2011
dbSNP: rs11658743
rs11658743 		1.000 0.040 17 78877679 intron variant T/C snv 0.17
CUI: C0595995
Disease: Idiopathic scoliosis
Idiopathic scoliosis 		Musculoskeletal Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs2277698
rs2277698 		0.807 0.320 17 78870935 synonymous variant C/T snv 0.13 0.11
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2277698
rs2277698 		0.807 0.320 17 78870935 synonymous variant C/T snv 0.13 0.11
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2277698
rs2277698 		0.807 0.320 17 78870935 synonymous variant C/T snv 0.13 0.11
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2277698
rs2277698 		0.807 0.320 17 78870935 synonymous variant C/T snv 0.13 0.11
CUI: C0752156
Disease: Dural Arteriovenous Fistula
Dural Arteriovenous Fistula 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2277698
rs2277698 		0.807 0.320 17 78870935 synonymous variant C/T snv 0.13 0.11
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2277698
rs2277698 		0.807 0.320 17 78870935 synonymous variant C/T snv 0.13 0.11
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2019 2019
dbSNP: rs2377005
rs2377005 		1.000 0.040 17 78874211 intron variant A/G snv 0.93
CUI: C0595995
Disease: Idiopathic scoliosis
Idiopathic scoliosis 		Musculoskeletal Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs4789936
rs4789936 		0.882 0.120 17 78901892 5 prime UTR variant C/T snv 0.52
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs4789936
rs4789936 		0.882 0.120 17 78901892 5 prime UTR variant C/T snv 0.52
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4789936
rs4789936 		0.882 0.120 17 78901892 5 prime UTR variant C/T snv 0.52
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4789936
rs4789936 		0.882 0.120 17 78901892 5 prime UTR variant C/T snv 0.52
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs540397728
rs540397728 		1.000 0.040 17 78871011 splice region variant A/G snv 1.2E-05
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs7342880
rs7342880 		1.000 0.040 17 78878430 intron variant A/C;G;T snv
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		Musculoskeletal Diseases 0.010 1.000 1 2017 2017