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: 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
dbSNP: rs1436931
rs1436931 		0.925 0.040 10 44331285 intergenic variant G/A;C snv
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1436931
rs1436931 		0.925 0.040 10 44331285 intergenic variant G/A;C snv
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs17482472
rs17482472 		10 44364170 intergenic variant G/A snv 8.4E-02
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs266085
rs266085 		0.851 0.200 10 44378805 intron variant C/T snv 0.32
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs266089
rs266089 		0.925 0.080 10 44373979 intron variant A/G;T snv
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs266095
rs266095 		1.000 10 44368720 downstream gene variant C/T snv 3.9E-02
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 1.000 1 2014 2014
dbSNP: rs266095
rs266095 		1.000 10 44368720 downstream gene variant C/T snv 3.9E-02
CUI: C0442874
Disease: Neuropathy
Neuropathy 		Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs266095
rs266095 		1.000 10 44368720 downstream gene variant C/T snv 3.9E-02
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2014 2014
dbSNP: rs266095
rs266095 		1.000 10 44368720 downstream gene variant C/T snv 3.9E-02
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2014 2014
dbSNP: rs266095
rs266095 		1.000 10 44368720 downstream gene variant C/T snv 3.9E-02
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 1 2014 2014
dbSNP: rs72790862
rs72790862 		10 44384812 intron variant T/C snv 0.26
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
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: 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: 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: 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
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
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