CXCL12, C-X-C motif chemokine ligand 12, 6387

N. diseases: 626; N. variants: 21
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: rs1801157
rs1801157
0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.010 < 0.001 1 2016 2016
dbSNP: rs1801157
rs1801157
0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.020 0.500 2 2014 2015
dbSNP: rs1801157
rs1801157
0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.030 0.667 3 2010 2017
dbSNP: rs1801157
rs1801157
0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.060 1.000 6 2009 2017
dbSNP: rs1801157
rs1801157
0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.060 1.000 6 2009 2017
dbSNP: rs1801157
rs1801157
0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
Pathological Conditions, Signs and Symptoms; Neoplasms 0.050 1.000 5 2007 2013
dbSNP: rs1801157
rs1801157
0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.040 1.000 4 2011 2018
dbSNP: rs1801157
rs1801157
0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.030 1.000 3 2011 2018
dbSNP: rs1801157
rs1801157
0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2009 2018
dbSNP: rs1801157
rs1801157
0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.020 1.000 2 2007 2018
dbSNP: rs1801157
rs1801157
0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 0.020 1.000 2 2009 2018
dbSNP: rs1801157
rs1801157
0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16
Malignant neoplasm of colon and/or rectum
0.020 1.000 2 2007 2018
dbSNP: rs1801157
rs1801157
0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.020 1.000 2 2009 2011
dbSNP: rs1801157
rs1801157
0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.020 1.000 2 2014 2015
dbSNP: rs2297630
rs2297630
0.827 0.160 10 44376100 intron variant G/A;T snv 0.21
CUI: C0398650
Disease: Immune thrombocytopenic purpura
Immune thrombocytopenic purpura
Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2013 2016
dbSNP: rs266085
rs266085
0.851 0.200 10 44378805 intron variant C/T snv 0.32
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2009 2015
dbSNP: rs266085
rs266085
0.851 0.200 10 44378805 intron variant C/T snv 0.32
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2009 2015
dbSNP: rs266085
rs266085
0.851 0.200 10 44378805 intron variant C/T snv 0.32
CUI: C4048328
Disease: cervical cancer
cervical cancer
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2009 2015
dbSNP: rs1029153
rs1029153
1.000 0.080 10 44371698 3 prime UTR variant A/G snv 0.27
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
Digestive System Diseases; Infections 0.010 1.000 1 2016 2016
dbSNP: rs1065297
rs1065297
0.925 0.040 10 44370528 3 prime UTR variant A/G snv 5.4E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1065297
rs1065297
0.925 0.040 10 44370528 3 prime UTR variant A/G snv 5.4E-02
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1065297
rs1065297
0.925 0.040 10 44370528 3 prime UTR variant A/G snv 5.4E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs10793538
rs10793538
1.000 0.040 10 44381138 intron variant T/A;C snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs10793538
rs10793538
1.000 0.040 10 44381138 intron variant T/A;C snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs11238999
rs11238999
1.000 0.080 10 44345031 regulatory region variant G/A;C snv
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009