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: rs1029153
rs1029153
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0019196
Disease:
Hepatitis C
0.010 GeneticVariation BEFREE In conclusion, in this study we found that the favorable CXCL12 rs1029153 T allele seems to be related so as to achieve an SVR in HIV/HCV-coinfected patients on pegIFN-α/ribavirin therapy. 26499461 2016
dbSNP: rs1065297
rs1065297
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE In the allele model, CXCL12 rs1065297 "G" allele, CXCL12 rs4948878 "G" allele and CXCL12 rs10793538 "T" allele were associated with decreased risk of hypertension (rs1065297: OR = 0.53, p = 0.005; rs4948878: OR = 0.51, p = 0.004; rs10793538: OR = 0.58, p = 0.005). 30180964 2018
dbSNP: rs1065297
rs1065297
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0085580
Disease:
Essential Hypertension
0.010 GeneticVariation BEFREE Model analysis found that CXCL12 rs1093538 TA-TT genotype was associated with decreased risk of hypertension in the dominant model (OR = 0.57, p = 0.0015); Log-additive model revealed that rs1065297 and rs4948878 in CXCL12 gene have a potential association with essential hypertension (rs1065297: OR = 0.54, p = 0.005; rs4948878: OR = 0.52, p = 0.0038). 30180964 2018
dbSNP: rs1065297
rs1065297
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE In the allele model, rs1065297, rs266089 and rs10793538 in <i>CXCL12</i> gene associated with the risk of CAD. 28903360 2017
dbSNP: rs10793538
rs10793538
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE In the allele model, CXCL12 rs1065297 "G" allele, CXCL12 rs4948878 "G" allele and CXCL12 rs10793538 "T" allele were associated with decreased risk of hypertension (rs1065297: OR = 0.53, p = 0.005; rs4948878: OR = 0.51, p = 0.004; rs10793538: OR = 0.58, p = 0.005). 30180964 2018
dbSNP: rs10793538
rs10793538
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE In the allele model, rs1065297, rs266089 and rs10793538 in <i>CXCL12</i> gene associated with the risk of CAD. 28903360 2017
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: rs1436931
rs1436931
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs1436931
rs1436931
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs1449295847
rs1449295847
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0007222
Disease:
Cardiovascular Diseases
0.010 GeneticVariation BEFREE Rs45456595 (CDKN2A, Gly63Arg), rs5128 (APOC3, 3'UTR), and rs72650673 (SH2B3, Glu400Lys) were nominally associated with history of CVD, subclinical CVD, or CVD risk factors (p < 0.010). 24725463 2014
dbSNP: rs17482472
rs17482472
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0200638
Disease:
Eosinophil count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.060 GeneticVariation BEFREE The association between rs1801157 genotypes (G/A) and BC risks was assessed by a multivariate logistic regression (MLR) analysis. 28929029 2017
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 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: 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: C0678222
Disease:
Breast Carcinoma
0.060 GeneticVariation BEFREE The CXCL12-3' G801A transition (rs1801157) has been associated with the incidence of breast cancer. 20406099 2010
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.060 GeneticVariation BEFREE However a significant difference was observed when CXCL12 mRNA relative expression was analyzed in breast cancer patients in accordance to the presence or absence of the CXCL12 rs1801157 allele A. Allele A breast cancer patients presented a mRNA CXCL12 expression about 2.1-fold smaller than GG breast cancer patients. 21592819 2011
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.060 GeneticVariation BEFREE The CXCL12-3' G801A transition (rs1801157) has been associated with the incidence of breast cancer. 20406099 2010
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.060 GeneticVariation BEFREE We found that the CXCL12 G801A (rs1801157) polymorphism was associated with a significantly increased risk of breast cancer risk when all studies were pooled into the meta-analysis (codomiant model: AA versus GG, OR = 1.64, 95% CI = 1.16-2.33; GA versus GG, OR = 1.42, 95% CI = 1.18-1.71; dominant model: AA/GA versus GG, OR = 1.44, 95% CI = 1.21-1.72). 21643956 2012
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0678222
Disease:
Breast Carcinoma
0.060 GeneticVariation BEFREE The association between rs1801157 genotypes (G/A) and BC risks was assessed by a multivariate logistic regression (MLR) analysis. 28929029 2017
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0678222
Disease:
Breast Carcinoma
0.060 GeneticVariation BEFREE We found that the CXCL12 G801A (rs1801157) polymorphism was associated with a significantly increased risk of breast cancer risk when all studies were pooled into the meta-analysis (codomiant model: AA versus GG, OR = 1.64, 95% CI = 1.16-2.33; GA versus GG, OR = 1.42, 95% CI = 1.18-1.71; dominant model: AA/GA versus GG, OR = 1.44, 95% CI = 1.21-1.72). 21643956 2012