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: rs2857656
rs2857656 		0.851 0.120 17 34254988 upstream gene variant G/A;C snv
CUI: C1867743
Disease: Premature coronary artery atherosclerosis
Premature coronary artery atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
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: 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: 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: 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: 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: 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: 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: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.010 1.000 1 2011 2011
dbSNP: rs2857656
rs2857656 		0.851 0.120 17 34254988 upstream gene variant G/A;C snv
CUI: C0041330
Disease: Tuberculosis, Spinal
Tuberculosis, Spinal 		Infections; Musculoskeletal Diseases 0.020 1.000 2 2014 2016
dbSNP: rs3917887
rs3917887 		0.776 0.240 17 34255979 non coding transcript exon variant AGCTCCTCCTTCTC/-;AGCTCCTCCTTCTCAGCTCCTCCTTCTC delins 0.33
CUI: C0041330
Disease: Tuberculosis, Spinal
Tuberculosis, Spinal 		Infections; Musculoskeletal Diseases 0.010 1.000 1 2016 2016
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: rs2857657
rs2857657 		1.000 0.040 17 34256113 non coding transcript exon variant G/C snv 0.86
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		Musculoskeletal Diseases 0.010 1.000 1 2013 2013
dbSNP: rs4586
rs4586 		0.790 0.280 17 34256250 synonymous variant T/C snv 0.44 0.48
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		Musculoskeletal Diseases 0.010 1.000 1 2007 2007
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: 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: 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: 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: 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: rs3760396
rs3760396 		0.732 0.280 17 34254422 upstream gene variant G/C snv 0.15
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		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: 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: rs3917887
rs3917887 		0.776 0.240 17 34255979 non coding transcript exon variant AGCTCCTCCTTCTC/-;AGCTCCTCCTTCTCAGCTCCTCCTTCTC delins 0.33
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		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: 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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2015 2015