CCL2, C-C motif chemokine ligand 2, 6347

N. diseases: 1157; N. variants: 8
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: rs760761240
rs760761240 		1.000 0.080 17 34256290 missense variant G/A;C snv 6.0E-05
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs3760396
rs3760396 		0.732 0.280 17 34254422 upstream gene variant G/C snv 0.15
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 < 0.001 1 2016 2016
dbSNP: rs3760396
rs3760396 		0.732 0.280 17 34254422 upstream gene variant G/C snv 0.15
CUI: C0206623
Disease: Adenosquamous carcinoma
Adenosquamous carcinoma 		Neoplasms 0.010 < 0.001 1 2016 2016
dbSNP: rs3760396
rs3760396 		0.732 0.280 17 34254422 upstream gene variant G/C snv 0.15
CUI: C0279557
Disease: Adenosquamous cell lung cancer
Adenosquamous cell lung cancer 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs4586
rs4586 		0.790 0.280 17 34256250 synonymous variant T/C snv 0.44 0.48
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.020 1.000 2 2013 2018
dbSNP: rs746076530
rs746076530 		1.000 0.080 17 34256238 synonymous variant A/G snv 1.6E-05 7.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.040 1.000 4 2011 2014
dbSNP: rs3917887
rs3917887 		0.776 0.240 17 34255979 non coding transcript exon variant AGCTCCTCCTTCTC/-;AGCTCCTCCTTCTCAGCTCCTCCTTCTC delins 0.33
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3917887
rs3917887 		0.776 0.240 17 34255979 non coding transcript exon variant AGCTCCTCCTTCTC/-;AGCTCCTCCTTCTCAGCTCCTCCTTCTC delins 0.33
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3760396
rs3760396 		0.732 0.280 17 34254422 upstream gene variant G/C snv 0.15
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3760396
rs3760396 		0.732 0.280 17 34254422 upstream gene variant G/C snv 0.15
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4586
rs4586 		0.790 0.280 17 34256250 synonymous variant T/C snv 0.44 0.48
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4586
rs4586 		0.790 0.280 17 34256250 synonymous variant T/C snv 0.44 0.48
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs3760396
rs3760396 		0.732 0.280 17 34254422 upstream gene variant G/C snv 0.15
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4586
rs4586 		0.790 0.280 17 34256250 synonymous variant T/C snv 0.44 0.48
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3760396
rs3760396 		0.732 0.280 17 34254422 upstream gene variant G/C snv 0.15
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3917887
rs3917887 		0.776 0.240 17 34255979 non coding transcript exon variant AGCTCCTCCTTCTC/-;AGCTCCTCCTTCTCAGCTCCTCCTTCTC delins 0.33
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs4586
rs4586 		0.790 0.280 17 34256250 synonymous variant T/C snv 0.44 0.48
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs13900
rs13900 		0.925 0.120 17 34256892 3 prime UTR variant C/T snv 0.28
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2019 2019
dbSNP: rs3760396
rs3760396 		0.732 0.280 17 34254422 upstream gene variant G/C snv 0.15
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3917887
rs3917887 		0.776 0.240 17 34255979 non coding transcript exon variant AGCTCCTCCTTCTC/-;AGCTCCTCCTTCTCAGCTCCTCCTTCTC delins 0.33
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs4586
rs4586 		0.790 0.280 17 34256250 synonymous variant T/C snv 0.44 0.48
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs13900
rs13900 		0.925 0.120 17 34256892 3 prime UTR variant C/T snv 0.28
CUI: C0023283
Disease: Leishmaniasis, Cutaneous
Leishmaniasis, Cutaneous 		Infections; Skin and Connective Tissue Diseases 0.010 1.000 1 2020 2020
dbSNP: rs3760396
rs3760396 		0.732 0.280 17 34254422 upstream gene variant G/C snv 0.15
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3760396
rs3760396 		0.732 0.280 17 34254422 upstream gene variant G/C snv 0.15
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3917887
rs3917887 		0.776 0.240 17 34255979 non coding transcript exon variant AGCTCCTCCTTCTC/-;AGCTCCTCCTTCTCAGCTCCTCCTTCTC delins 0.33
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2015 2015