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: C2239176
Disease:
Liver carcinoma
0.020 GeneticVariation BEFREE CXCL12 rs1801157 and CXCR4 rs2228014 polymorphisms were associated with increased susceptibility of HCC, and genotypes GA/AA and CT/TT may be risk factors of HCC (all p < 0.05). 29741398 2018
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0024305
Disease:
Lymphoma, Non-Hodgkin
0.020 GeneticVariation BEFREE CXCL12 rs1801157 polymorphism which was found to be associated with extranodal involvement and increased LDH in NHL might be a marker of poor prognosis in patients with GA and AA genotypes. 30197351 2018
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0006826
Disease:
Malignant Neoplasms
0.040 GeneticVariation BEFREE CXCL12 has been implicated in human carcinogenesis, but the association between the most-studied G801A polymorphism (rs1801157) and the risk of various cancers was reported with inconclusive results. 22939870 2012
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C1862382
Disease:
SVEINSSON CHORIORETINAL ATROPHY
0.010 GeneticVariation BEFREE Expression of the CXCL12 (SNP rs1801157) polymorphisms GA/AA significantly correlated with distant metastasis (P=0.026), but not with prognosis. 21584490 2011
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0027627
Disease:
Neoplasm Metastasis
0.050 GeneticVariation BEFREE Expression of the CXCL12 (SNP rs1801157) polymorphisms GA/AA significantly correlated with distant metastasis (P=0.026), but not with prognosis. 21584490 2011
dbSNP: rs2297630
rs2297630
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0398650
Disease:
Immune thrombocytopenic purpura
0.020 GeneticVariation BEFREE Further analysis of the relationship between SDF-1 polymorphisms and clinical features showed that rs2297630 A/G was associated with protection from chronicity (P = 0.002; OR, 0.07; 95% CI, 0.01-0.61) and steroid dependence (P = 0.007; OR, 0.10; 95% CI, 0.01-0.84) in ITP patients. 23078136 2013
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0023452
Disease:
Childhood Acute Lymphoblastic Leukemia
0.010 GeneticVariation BEFREE Genetic polymorphisms in the 3'UTR region of the CXCL12 (rs1801157) and TP53 codon 72 (rs1042522) genes may contribute to susceptibility to childhood ALL because they affect some important processes, such as metastasis regulation and tumor suppression. 23653000 2013
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0023449
Disease:
Acute lymphocytic leukemia
0.010 GeneticVariation BEFREE Genetic polymorphisms in the 3'UTR region of the CXCL12 (rs1801157) and TP53 codon 72 (rs1042522) genes may contribute to susceptibility to childhood ALL because they affect some important processes, such as metastasis regulation and tumor suppression. 23653000 2013
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0751606
Disease:
Adult Acute Lymphocytic Leukemia
0.010 GeneticVariation BEFREE Genetic polymorphisms in the 3'UTR region of the CXCL12 (rs1801157) and TP53 codon 72 (rs1042522) genes may contribute to susceptibility to childhood ALL because they affect some important processes, such as metastasis regulation and tumor suppression. 23653000 2013
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0027627
Disease:
Neoplasm Metastasis
0.050 GeneticVariation BEFREE Genetic polymorphisms in the 3'UTR region of the CXCL12 (rs1801157) and TP53 codon 72 (rs1042522) genes may contribute to susceptibility to childhood ALL because they affect some important processes, such as metastasis regulation and tumor suppression. 23653000 2013
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: rs266095
rs266095
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C1836230
Disease:
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
0.700 GeneticVariation GWASCAT Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384. 24554482 2014
dbSNP: rs266095
rs266095
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C1836233
Disease:
AIDS, PROGRESSION TO
0.700 GeneticVariation GWASCAT Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384. 24554482 2014
dbSNP: rs266095
rs266095
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0442874
Disease:
Neuropathy
0.700 GeneticVariation GWASCAT Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384. 24554482 2014
dbSNP: rs266095
rs266095
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C1836231
Disease:
HIV-1, RESISTANCE TO
0.700 GeneticVariation GWASCAT Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384. 24554482 2014
dbSNP: rs266095
rs266095
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C1836232
Disease:
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
0.700 GeneticVariation GWASCAT Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384. 24554482 2014
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.010 GeneticVariation BEFREE Genotype CT of rs2228014 appeared to correlate with AML risk, but played no role in leukemia cells invading the bloodstream, while rs1801157 and the two combined SNPs were not associated with either increased AML risk or extramedullary leukemia-cell dissemination. 27154815 2016
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C1956346
Disease:
Coronary Artery Disease
0.020 GeneticVariation BEFREE Here, we investigated the function of SDF-1 rs1801157G/A polymorphism in various immune cells and examined its association with susceptibility to coronary artery disease (CAD). 24361877 2014
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: C0678222
Disease:
Breast Carcinoma
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: 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
dbSNP: rs197452
rs197452
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0239816
Disease:
Hand eczema
0.010 GeneticVariation BEFREE In addition, EGF (rs10029654), EGFR (rs12718939), CXCL12 (rs197452), and VCAM1 (rs3917018) genes showed an association with hand dermatitis (P < 0.005). 27206134 2016
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0023434
Disease:
Chronic Lymphocytic Leukemia
0.010 GeneticVariation BEFREE In conclusion, data from this study indicate that the CXCL12 rs1801157 G > A polymorphism may affect CLL development, disease progression as well as response to treatment. 27173875 2016
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: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0027051
Disease:
Myocardial Infarction
0.030 GeneticVariation BEFREE In conclusion, our meta-analysis demonstrated that the rs1801157 polymorphism is not associated with the susceptibility to CHD but may be associated with a decreased risk of MI. 26133117 2015