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

N. diseases: 626; N. variants: 21
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C2363741
Disease:
HIV-1 infection
0.010 GeneticVariation BEFREE To identify additional alleles that may influence HIV-1 infection and progression to AIDS, nine SNPs (including rs1801157) spanning 20.2 kb in and around the SDF-1 gene were genotyped in over 3000 African American (AA) and European American (EA) participants enrolled in five longitudinal HIV-1/AIDS natural cohort studies. 16177829 2005
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0027627
Disease:
Neoplasm Metastasis
0.050 GeneticVariation BEFREE We were also unable to find a correlation between rs1801157 and different prognostic markers such as metastasis development or disease-free survival time. 17982648 2007
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.020 GeneticVariation BEFREE The epidemiologic data involving CXCL12 rs1801157 in colorectal cancer risk are discussed. 17982648 2007
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0009402
Disease:
Colorectal Carcinoma
0.020 GeneticVariation BEFREE The epidemiologic data involving CXCL12 rs1801157 in colorectal cancer risk are discussed. 17982648 2007
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0699790
Disease:
Colon Carcinoma
0.010 GeneticVariation BEFREE Recently, a G>A functional transition mapping the 3' untranslated region of the CXCL12 gene (rs1801157) has been found to be under-represented among rectal cancer patients when compared to colon cancer patients from a Swedish series. 17982648 2007
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0007102
Disease:
Malignant tumor of colon
0.010 GeneticVariation BEFREE Recently, a G>A functional transition mapping the 3' untranslated region of the CXCL12 gene (rs1801157) has been found to be under-represented among rectal cancer patients when compared to colon cancer patients from a Swedish series. 17982648 2007
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0678222
Disease:
Breast Carcinoma
0.060 GeneticVariation BEFREE Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) and rs12812942-rs3136685-rs2228014-rs1801157 (CD4- CCR7-CXCR4-CXCL12) with specific genotype patterns (AT-CC-CC and AT-AG-CC-GG) among three and four combinational SNPs were significantly low in breast cancer occurrence. 19196101 2009
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.060 GeneticVariation BEFREE Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) and rs12812942-rs3136685-rs2228014-rs1801157 (CD4- CCR7-CXCR4-CXCL12) with specific genotype patterns (AT-CC-CC and AT-AG-CC-GG) among three and four combinational SNPs were significantly low in breast cancer occurrence. 19196101 2009
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C2239176
Disease:
Liver carcinoma
0.020 GeneticVariation BEFREE Polymerase chain reaction-restriction fragment length polymorphism was used to measure SDF-1 (rs1801157) and CXCR4 (rs2228014) gene polymorphisms in 311 healthy controls and 102 patients with HCC. 19327121 2009
dbSNP: rs11238999
rs11238999
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0027404
Disease:
Narcolepsy
0.700 GeneticVariation GWASDB Genome-wide association database developed in the Japanese Integrated Database Project. 19629137 2009
dbSNP: rs266085
rs266085
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0302592
Disease:
Cervix carcinoma
0.020 GeneticVariation BEFREE A stepwise procedure identified rs17885289, rs266085 and 3'-untranslated region (UTR) SNP rs266093 as the most parsimonious subset of SNPs necessary to define the haplotype inversely associated with cervical cancer risk in our study. 19788587 2009
dbSNP: rs266085
rs266085
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C4048328
Disease:
cervical cancer
0.020 GeneticVariation BEFREE A stepwise procedure identified rs17885289, rs266085 and 3'-untranslated region (UTR) SNP rs266093 as the most parsimonious subset of SNPs necessary to define the haplotype inversely associated with cervical cancer risk in our study. 19788587 2009
dbSNP: rs266085
rs266085
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0007847
Disease:
Malignant tumor of cervix
0.020 GeneticVariation BEFREE A stepwise procedure identified rs17885289, rs266085 and 3'-untranslated region (UTR) SNP rs266093 as the most parsimonious subset of SNPs necessary to define the haplotype inversely associated with cervical cancer risk in our study. 19788587 2009
dbSNP: rs17885289
rs17885289
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0302592
Disease:
Cervix carcinoma
0.010 GeneticVariation BEFREE A stepwise procedure identified rs17885289, rs266085 and 3'-untranslated region (UTR) SNP rs266093 as the most parsimonious subset of SNPs necessary to define the haplotype inversely associated with cervical cancer risk in our study. 19788587 2009
dbSNP: rs17885289
rs17885289
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0007847
Disease:
Malignant tumor of cervix
0.010 GeneticVariation BEFREE A stepwise procedure identified rs17885289, rs266085 and 3'-untranslated region (UTR) SNP rs266093 as the most parsimonious subset of SNPs necessary to define the haplotype inversely associated with cervical cancer risk in our study. 19788587 2009
dbSNP: rs17885289
rs17885289
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C4048328
Disease:
cervical cancer
0.010 GeneticVariation BEFREE A stepwise procedure identified rs17885289, rs266085 and 3'-untranslated region (UTR) SNP rs266093 as the most parsimonious subset of SNPs necessary to define the haplotype inversely associated with cervical cancer risk in our study. 19788587 2009
dbSNP: rs266093
rs266093
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0302592
Disease:
Cervix carcinoma
0.010 GeneticVariation BEFREE A stepwise procedure identified rs17885289, rs266085 and 3'-untranslated region (UTR) SNP rs266093 as the most parsimonious subset of SNPs necessary to define the haplotype inversely associated with cervical cancer risk in our study. 19788587 2009
dbSNP: rs266093
rs266093
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C4048328
Disease:
cervical cancer
0.010 GeneticVariation BEFREE A stepwise procedure identified rs17885289, rs266085 and 3'-untranslated region (UTR) SNP rs266093 as the most parsimonious subset of SNPs necessary to define the haplotype inversely associated with cervical cancer risk in our study. 19788587 2009
dbSNP: rs266093
rs266093
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0007847
Disease:
Malignant tumor of cervix
0.010 GeneticVariation BEFREE A stepwise procedure identified rs17885289, rs266085 and 3'-untranslated region (UTR) SNP rs266093 as the most parsimonious subset of SNPs necessary to define the haplotype inversely associated with cervical cancer risk in our study. 19788587 2009
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0027051
Disease:
Myocardial Infarction
0.030 GeneticVariation BEFREE This study was aimed to investigate whether the SDF1-3'A polymorphism (rs1801157) is associated to myocardial infarction (MI) in a sample of Chinese Han population. 19821058 2010
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.060 GeneticVariation BEFREE CXCL12 rs1801157 polymorphism in patients with breast cancer, Hodgkin's lymphoma, and non-Hodgkin's lymphoma. 19927352 2009
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0678222
Disease:
Breast Carcinoma
0.060 GeneticVariation BEFREE CXCL12 rs1801157 polymorphism in patients with breast cancer, Hodgkin's lymphoma, and non-Hodgkin's lymphoma. 19927352 2009
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0027627
Disease:
Neoplasm Metastasis
0.050 GeneticVariation BEFREE The single-nucleotide polymorphism (SNP) rs1801157 (previously known as CXCL12-A/ stromal cell-derived factor-1 (SDF1)-3'A) in CXCL12/SDF1 gene was assessed in breast cancer, Hodgkin's lymphoma (HL), and non-Hodgkin's lymphoma (NHL), since the chemokine CXCL12, previously known as SDF1, and its receptor CXCR4 regulate leukocyte trafficking and many essential biological processes, including tumor growth, angiogenesis, and metastasis of different types of tumors. 19927352 2009
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0027651
Disease:
Neoplasms
0.020 GeneticVariation BEFREE The single-nucleotide polymorphism (SNP) rs1801157 (previously known as CXCL12-A/ stromal cell-derived factor-1 (SDF1)-3'A) in CXCL12/SDF1 gene was assessed in breast cancer, Hodgkin's lymphoma (HL), and non-Hodgkin's lymphoma (NHL), since the chemokine CXCL12, previously known as SDF1, and its receptor CXCR4 regulate leukocyte trafficking and many essential biological processes, including tumor growth, angiogenesis, and metastasis of different types of tumors. 19927352 2009
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0024305
Disease:
Lymphoma, Non-Hodgkin
0.020 GeneticVariation BEFREE However, this study suggests that CXCL12 rs1801157 polymorphism may have important implications in the pathogenesis of NHL. 19927352 2009