CX3CR1, C-X3-C motif chemokine receptor 1, 1524

N. diseases: 310; N. variants: 10
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3732378
rs3732378
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0023508
Disease:
White Blood Cell Count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs3732378
rs3732378
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0200637
Disease:
Monocyte count procedure 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs3732378
rs3732378
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0200635
Disease:
Lymphocyte Count measurement 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs3732378
rs3732378
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0750880
Disease:
Monocyte count result 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs3732378
rs3732378
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration 		0.090 GeneticVariation BEFREE PLEKHA1 958A/G polymorphism was associated with a decreased AMD risk (additive model: aOR=0.722, 95% CI=0.450-0.979, P=0.019; allele model: aOR=0.883, 95% CI=0.736-0.992, P=0.014), while all other polymorphisms were associated with an increased AMD risk (CX3CR1 839C/T, additive model: aOR=2.682, 95% CI=1.119-5.709, P=0.022, recessive model: aOR=2.729, 95% CI=1.141-6.048, P=0.010; CX3CR1 745G/A, additive model: aOR=2.614, 95% CI=1.231-6.012, P=0.020, recessive model: aOR=2.340, 95% CI=1.227-5.993, P=0.011; VEGFA +674C/T, additive model: aOR=1.601, 95% CI=1.253-2.179, P<0.001, dominant model: aOR=1.287, 95% CI=1.058-1.570, P<0.001, allele model: OR=1.220, 95% CI=1.118-1.427, P<0.001; VEGFA +936C/T, additive model: aOR=1.509, 95% CI=1.105-2.311, P<0.001, recessive model: aOR=1.432, 95% CI=1.027-2.192, P=0.009, dominant model: aOR=1.207, 95% CI=1.031-1.514, P0.001, allele model: aOR=1.216, 95% CI=1.062-1.408, P<0.001). 29565837 2018
dbSNP: rs3732378
rs3732378
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration 		0.090 GeneticVariation BEFREE No obvious differences were observed in the genotypes of rs3732378</span> polymorphism between case and control groups (P>0.05), but A allele of it could increase the risk of AMD (P=0.025, OR=2.391, 95% CI=1.092-5.237). 26464724 2015
dbSNP: rs3732378
rs3732378
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration 		0.090 GeneticVariation BEFREE Significant evidence for a relationship between T280M and V249I variants in CX3CR1 in the homozygote state with increased susceptibility to AMD was reported. 26305531 2015
dbSNP: rs3732378
rs3732378
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration 		0.090 GeneticVariation BEFREE CX3CR1 (T280M and V249I) and PLEKHA1 (A320T) polymorphisms were not found to be associated with AMD. 25050486 2014
dbSNP: rs3732378
rs3732378
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration 		0.090 GeneticVariation BEFREE If replicated in other populations, these findings would support a role for CX3CR1 in AMD but also suggest that its role may involve mechanisms that are independent of the T280M/V249I variations. 24287500 2014
dbSNP: rs3732378
rs3732378
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration 		0.090 GeneticVariation BEFREE The T280M polymorphism was not associated with either AMD Grades 2-3 or AMD Grades 4 or 5. 22816662 2012
dbSNP: rs3732378
rs3732378
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration 		0.090 GeneticVariation BEFREE Our study exclude an association between the T280M of the CX3CR1 gene and exudative AMD in a French population. 21621535 2011
dbSNP: rs3732378
rs3732378
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration 		0.090 GeneticVariation BEFREE CX3CR1 V249I and T280M and the HTRA1 promoter SNP were significantly associated with the risk of exudative AMD. 20538655 2010
dbSNP: rs3732378
rs3732378
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration 		0.090 GeneticVariation BEFREE Furthermore, lower CX3CR1 protein expression was observed in the maculae of AMD eyes bearing T/M280 compared with the controls bearing T/T280. 15208270 2004
dbSNP: rs3732379
rs3732379
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration 		0.080 GeneticVariation BEFREE PLEKHA1 958A/G polymorphism was associated with a decreased AMD risk (additive model: aOR=0.722, 95% CI=0.450-0.979, P=0.019; allele model: aOR=0.883, 95% CI=0.736-0.992, P=0.014), while all other polymorphisms were associated with an increased AMD risk (CX3CR1 839C/T, additive model: aOR=2.682, 95% CI=1.119-5.709, P=0.022, recessive model: aOR=2.729, 95% CI=1.141-6.048, P=0.010; CX3CR1 745G/A, additive model: aOR=2.614, 95% CI=1.231-6.012, P=0.020, recessive model: aOR=2.340, 95% CI=1.227-5.993, P=0.011; VEGFA +674C/T, additive model: aOR=1.601, 95% CI=1.253-2.179, P<0.001, dominant model: aOR=1.287, 95% CI=1.058-1.570, P<0.001, allele model: OR=1.220, 95% CI=1.118-1.427, P<0.001; VEGFA +936C/T, additive model: aOR=1.509, 95% CI=1.105-2.311, P<0.001, recessive model: aOR=1.432, 95% CI=1.027-2.192, P=0.009, dominant model: aOR=1.207, 95% CI=1.031-1.514, P0.001, allele model: aOR=1.216, 95% CI=1.062-1.408, P<0.001). 29565837 2018
dbSNP: rs3732379
rs3732379
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration 		0.080 GeneticVariation BEFREE Significant evidence for a relationship between T280M and V249I variants in CX3CR1 in the homozygote state with increased susceptibility to AMD was reported. 26305531 2015
dbSNP: rs3732379
rs3732379
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration 		0.080 GeneticVariation BEFREE T allele of rs3732379 might have a positive association with the susceptibility of AMD. 26464724 2015
dbSNP: rs3732378
rs3732378
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C1956346
Disease:
Coronary Artery Disease 		0.080 GeneticVariation BEFREE The analysis showed that the 280M allele carriers of the CX3CR1 T280M polymorphism decreased the risk of AS and coronary artery disease (CAD) in the heterozygous state but increased the risk of ischemic cerebrovascular disease (ICVD) in the homozygote state. 25221380 2014
dbSNP: rs3732379
rs3732379
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration 		0.080 GeneticVariation BEFREE CX3CR1 (T280M and V249I) and PLEKHA1 (A320T) polymorphisms were not found to be associated with AMD. 25050486 2014
dbSNP: rs3732379
rs3732379
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C1956346
Disease:
Coronary Artery Disease 		0.080 GeneticVariation BEFREE The 249I allele carriers of the CX3CR1 V249I polymorphism decreased the risk of AS and CAD in the heterozygous state. 25221380 2014
dbSNP: rs3732379
rs3732379
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration 		0.080 GeneticVariation BEFREE If replicated in other populations, these findings would support a role for CX3CR1 in AMD but also suggest that its role may involve mechanisms that are independent of the T280M/V249I variations. 24287500 2014
dbSNP: rs3732378
rs3732378
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C1956346
Disease:
Coronary Artery Disease 		0.080 GeneticVariation BEFREE Association of V249I and T280M polymorphisms in the chemokine receptor CX3CR1 gene with early onset of coronary artery disease among North Indians. 22731642 2012
dbSNP: rs3732379
rs3732379
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration 		0.080 GeneticVariation BEFREE In this Greek population, after adjusting for known risk factors, increased risk of geographic atrophy (GA) AMD among the carriers of the V249I polymorphism in the CX3CR1 gene was found. 22816662 2012
dbSNP: rs3732379
rs3732379
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C1956346
Disease:
Coronary Artery Disease 		0.080 GeneticVariation BEFREE Association of V249I and T280M polymorphisms in the chemokine receptor CX3CR1 gene with early onset of coronary artery disease among North Indians. 22731642 2012
dbSNP: rs3732378
rs3732378
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C1956346
Disease:
Coronary Artery Disease 		0.080 GeneticVariation BEFREE The CX3CR1 gene encodes the fractalkine (CX3CL1) receptor and has two coding single-nucleotide polymorphisms, V249I and T280M, linked to a lower risk of other inflammatory diseases such as coronary artery disease (CAD) and asthma. 20523302 2011
dbSNP: rs3732379
rs3732379
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C1956346
Disease:
Coronary Artery Disease 		0.080 GeneticVariation BEFREE The CX3CR1 gene encodes the fractalkine (CX3CL1) receptor and has two coding single-nucleotide polymorphisms, V249I and T280M, linked to a lower risk of other inflammatory diseases such as coronary artery disease (CAD) and asthma. 20523302 2011