chr3:46357717:G>A Detail (hg38) (CCR2)

Information

Genome

Assembly Position
hg19 chr3:46,399,208-46,399,208 View the variant detail on this assembly version.
hg38 chr3:46,357,717-46,357,717

HGVS

Type Transcript Protein
RefSeq NM_001123396.1:c.190G>A NP_001116868.1:p.Val64Ile
Ensemble ENST00000400888.2:c.190G>A ENST00000400888.2:p.Val64Ile
ENST00000445132.3:c.190G>A ENST00000445132.3:p.Val64Ile
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.288
ToMMo:0.280
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.207

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 601267 OMIM
HGNC 1603 HGNC
Ensembl ENSG00000121807 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv12301922 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
protective 2015-05-18 no assertion criteria provided Susceptibility to HIV infection germline Detail
Benign 2019-10-18 criteria provided, single submitter CCR2-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 endometriosis Analysis of the involvement of CCR5-Delta32 and CCR2-V64I variants in the develo... BeFree 14981141 Detail
0.001 hepatitis C CCL2-2518 A/G and CCR2 190 A/G do not influence the outcome of hepatitis C virus... BeFree 17465499 Detail
0.003 Periodontitis, Juvenile Combined association of CCR2-V64I and MCP-1-2518A/G polymorphisms with generalis... BeFree 21264360 Detail
0.003 Malignant neoplasm of urinary bladder Furthermore, SDF-1 3'A, CCR2A V64I and CXCR4 gene polymorphisms may contribute t... BeFree 22982413 Detail
0.003 Chronic Obstructive Airway Disease These data suggest that MCP-1 -2518 A/G and CCR2 190G/A polymorphisms are new ri... BeFree 22276574 Detail
0.048 HIV Infections CCR2 V64I (G/A), monocyte chemoattractant protein-1 (MCP-1) -2518 A/G, stromal c... BeFree 19942750 Detail
0.137 HIV Infections Four SNPs (CCR2-V64I, CCR5-2459, MIP1A+954, and IL2+3896) and specific haplotype... BeFree 16323127 Detail
0.001 hepatitis C The G190A polymorphism (variant allele Ile64) in the first transmembrane domain ... BeFree 15086398 Detail
<0.001 adrenoleukodystrophy We also studied the relationship between -2518 A &gt; G CCL2 and CCR2 190 A/G po... BeFree 22861370 Detail
0.158 HIV Infections Four SNPs (CCR2-V64I, CCR5-2459, MIP1A+954, and IL2+3896) and specific haplotype... BeFree 16323127 Detail
<0.001 Carotid Atherosclerosis Subjects who had both the MCP-1 CC genotype and were heterozygotic or homozygoti... BeFree 19506371 Detail
0.005 Cerebrovascular accident In the hypertensive group, CCR2 rs1799864, CCR5 rs1799987 and CCL11 rs4795895 we... BeFree 22769019 Detail
0.002 Carcinoma of bladder Furthermore, SDF-1 3'A, CCR2A V64I and CXCR4 gene polymorphisms may contribute t... BeFree 22982413 Detail
0.065 HIV Infections We have studied in non-human primates (chimpanzee, gorilla, gibbon, orang-utan, ... BeFree 12879309 Detail
0.048 HIV Infections Association between the CCR2-Val64Ile polymorphism and susceptibility to HIV-1 i... BeFree 21461583 Detail
<0.001 Kidney Diseases The frequency of CCR2-V64I and other chemokine and chemokine receptor polymorphi... BeFree 22041342 Detail
<0.001 Tuberculosis, extrapulmonary CCR2 V64I (G/A), monocyte chemoattractant protein-1 (MCP-1) -2518 A/G, stromal c... BeFree 19942750 Detail
0.001 Carcinoma of bladder Furthermore, SDF-1 3'A, CCR2A V64I and CXCR4 gene polymorphisms may contribute t... BeFree 22982413 Detail
<0.001 Carcinoma of bladder Furthermore, SDF-1 3'A, CCR2A V64I and CXCR4 gene polymorphisms may contribute t... BeFree 22982413 Detail
0.002 myocardial infarction In the present study, we investigated whether genetic variants of CCR2-V64I and ... BeFree 20182805 Detail
<0.001 migraine with aura Among active migraine with aura, the odds ratios (95% confidence intervals) were... BeFree 19559392 Detail
<0.001 migraine with aura Among active migraine with aura, the odds ratios (95% confidence intervals) were... BeFree 19559392 Detail
0.014 multiple sclerosis Lack of association between monocyte protein-1 (MCP-1) -2518 A&gt;G chemoattract... BeFree 20637631 Detail
<0.001 Common Migraine Among active migraine with aura, the odds ratios (95% confidence intervals) were... BeFree 19559392 Detail
0.227 HIV Infections Frequencies obtained were 23.8% for SDF1-3'A and 9.5% for CCR2-V64I for both HIV... BeFree 11429106 Detail
0.003 Cerebrovascular accident In the hypertensive group, CCR2 rs1799864, CCR5 rs1799987 and CCL11 rs4795895 we... BeFree 22769019 Detail
<0.001 renal cell carcinoma These data suggested that MCP-1 -2518A/G and CCR2 190G/A polymorphisms are new r... BeFree 23657965 Detail
<0.001 Tuberculosis, Pulmonary CCR2 V64I (G/A), monocyte chemoattractant protein-1 (MCP-1) -2518 A/G, stromal c... BeFree 19942750 Detail
0.048 HIV Infections Frequencies obtained were 23.8% for SDF1-3'A and 9.5% for CCR2-V64I for both HIV... BeFree 11429106 Detail
<0.001 migraine with aura Among active migraine with aura, the odds ratios (95% confidence intervals) were... BeFree 19559392 Detail
0.003 Migraine Disorders Regarding any history of migraine, the multivariable-adjusted odds ratios (95% c... BeFree 19559392 Detail
0.123 Migraine Disorders Regarding any history of migraine, the multivariable-adjusted odds ratios (95% c... BeFree 19559392 Detail
0.009 Common Migraine Among active migraine with aura, the odds ratios (95% confidence intervals) were... BeFree 19559392 Detail
0.001 Malignant tumor of cervix CCR2-V64I polymorphism is associated with increased risk of cervical cancer but ... BeFree 20537184 Detail
0.048 HIV Infections Four SNPs (CCR2-V64I, CCR5-2459, MIP1A+954, and IL2+3896) and specific haplotype... BeFree 16323127 Detail
0.048 HIV Infections CCR2-V64I polymorphism has been previously reported to influence the progression... BeFree 20537184 Detail
0.004 hepatitis C CCL2-2518 A/G and CCR2 190 A/G do not influence the outcome of hepatitis C virus... BeFree 17465499 Detail
0.003 Cerebrovascular accident In the hypertensive group, CCR2 rs1799864, CCR5 rs1799987 and CCL11 rs4795895 we... BeFree 22769019 Detail
0.126 Tuberculosis, Pulmonary CCR2 V64I (G/A), monocyte chemoattractant protein-1 (MCP-1) -2518 A/G, stromal c... BeFree 19942750 Detail
0.001 multiple sclerosis The +190 G/A (rs1799864) polymorphism in the C-C chemokine receptor 2 (CCR2) gen... BeFree 25604634 Detail
0.002 myocardial infarction Examining an association between myocardial infarction (MI) and the Val/Ile poly... BeFree 12853162 Detail
<0.001 Carcinoma of bladder Our results suggest that the genetic variants of SDF-1 3'A, CCR2A V64I and CCR5 ... BeFree 22982413 Detail
0.003 Diabetes Mellitus, Non-Insulin-Dependent CCR2 V64I and CCR5 59029 (G/A) were detected by polymerase chain reaction-restri... BeFree 11756347 Detail
0.003 Malignant neoplasm of urinary bladder Our results suggest that the genetic variants of SDF-1 3'A, CCR2A V64I and CCR5 ... BeFree 22982413 Detail
<0.001 migraine with aura Among active migraine with aura, the odds ratios (95% confidence intervals) were... BeFree 19559392 Detail
0.139 Migraine Disorders Regarding any history of migraine, the multivariable-adjusted odds ratios (95% c... BeFree 19559392 Detail
<0.001 Carotid Artery Plaque The combination of the MCP-1 CC homozygous genotype and the homozygotic or heter... BeFree 19506371 Detail
0.159 HIV Infections CCR2 V64I (G/A), monocyte chemoattractant protein-1 (MCP-1) -2518 A/G, stromal c... BeFree 19942750 Detail
0.001 Malignant neoplasm of urinary bladder Furthermore, SDF-1 3'A, CCR2A V64I and CXCR4 gene polymorphisms may contribute t... BeFree 22982413 Detail
<0.001 Common Migraine Among active migraine with aura, the odds ratios (95% confidence intervals) were... BeFree 19559392 Detail
0.160 HIV Infections We have studied in non-human primates (chimpanzee, gorilla, gibbon, orang-utan, ... BeFree 12879309 Detail
<0.001 Carotid Artery Plaque The combination of the MCP-1 CC homozygous genotype and the homozygotic or heter... BeFree 19506371 Detail
0.001 multiple sclerosis Lack of association between monocyte protein-1 (MCP-1) -2518 A&gt;G chemoattract... BeFree 20637631 Detail
0.014 myocardial infarction Our objective was to examine the association between myocardial infarction (MI) ... BeFree 11477473 Detail
<0.001 endometriosis Analysis of the involvement of CCR5-Delta32 and CCR2-V64I variants in the develo... BeFree 14981141 Detail
<0.001 neurological disability The aim of the current study was to analyse the association of CCR2 +190 G/A (rs... BeFree 25604634 Detail
0.002 cervix carcinoma CCR2-V64I polymorphism is associated with increased risk of cervical cancer but ... BeFree 20537184 Detail
0.002 Malignant neoplasm of urinary bladder Furthermore, SDF-1 3'A, CCR2A V64I and CXCR4 gene polymorphisms may contribute t... BeFree 22982413 Detail
<0.001 Virus Diseases CCL2-2518 A/G and CCR2 190 A/G do not influence the outcome of hepatitis C virus... BeFree 17465499 Detail
<0.001 migraine with aura Among active migraine with aura, the odds ratios (95% confidence intervals) were... BeFree 19559392 Detail
0.185 HIV Infections Four SNPs (CCR2-V64I, CCR5-2459, MIP1A+954, and IL2+3896) and specific haplotype... BeFree 16323127 Detail
0.137 Tuberculosis, Pulmonary CCR2 V64I (G/A), monocyte chemoattractant protein-1 (MCP-1) -2518 A/G, stromal c... BeFree 19942750 Detail
0.297 multiple sclerosis The +190 G/A (rs1799864) polymorphism in the C-C chemokine receptor 2 (CCR2) gen... BeFree 25604634 Detail
0.048 HIV Infections We have studied in non-human primates (chimpanzee, gorilla, gibbon, orang-utan, ... BeFree 12879309 Detail
0.015 acquired immunodeficiency syndrome A single nucleotide polymorphism (SNP) at codon 64 in the CC chemokine receptor ... BeFree 12325020 Detail
<0.001 Common Migraine Among active migraine with aura, the odds ratios (95% confidence intervals) were... BeFree 19559392 Detail
<0.001 Common Migraine Among active migraine with aura, the odds ratios (95% confidence intervals) were... BeFree 19559392 Detail
0.003 Migraine Disorders [Variants in TNF, CCR2, TGFB1, NOS3, and IL9 were found to be associated with mi... GAD 19559392 Detail
0.006 sarcoidosis The role of the C-C chemokine receptor 2 gene polymorphism V64I (CCR2-64I) in sa... BeFree 10351956 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001123396.4(CCR2):c.190G>A (p.Val64Ile) AND Susceptibility to HIV infection ClinVar Detail
NM_001123396.4(CCR2):c.190G>A (p.Val64Ile) AND CCR2-related disorder ClinVar Detail
Analysis of the involvement of CCR5-Delta32 and CCR2-V64I variants in the development of endometrios... DisGeNET Detail
CCL2-2518 A/G and CCR2 190 A/G do not influence the outcome of hepatitis C virus infection in the Sp... DisGeNET Detail
Combined association of CCR2-V64I and MCP-1-2518A/G polymorphisms with generalised aggressive period... DisGeNET Detail
Furthermore, SDF-1 3'A, CCR2A V64I and CXCR4 gene polymorphisms may contribute to the muscle invasiv... DisGeNET Detail
These data suggest that MCP-1 -2518 A/G and CCR2 190G/A polymorphisms are new risk factors for COPD. DisGeNET Detail
CCR2 V64I (G/A), monocyte chemoattractant protein-1 (MCP-1) -2518 A/G, stromal cell derived factor-1... DisGeNET Detail
Four SNPs (CCR2-V64I, CCR5-2459, MIP1A+954, and IL2+3896) and specific haplotypes in the IL2 and CCR... DisGeNET Detail
The G190A polymorphism (variant allele Ile64) in the first transmembrane domain of CCR2 was under-re... DisGeNET Detail
We also studied the relationship between -2518 A &gt; G CCL2 and CCR2 190 A/G polymorphisms and seve... DisGeNET Detail
Four SNPs (CCR2-V64I, CCR5-2459, MIP1A+954, and IL2+3896) and specific haplotypes in the IL2 and CCR... DisGeNET Detail
Subjects who had both the MCP-1 CC genotype and were heterozygotic or homozygotic for the CCR2 V64I ... DisGeNET Detail
In the hypertensive group, CCR2 rs1799864, CCR5 rs1799987 and CCL11 rs4795895 were nominally associa... DisGeNET Detail
Furthermore, SDF-1 3'A, CCR2A V64I and CXCR4 gene polymorphisms may contribute to the muscle invasiv... DisGeNET Detail
We have studied in non-human primates (chimpanzee, gorilla, gibbon, orang-utan, crab-eating and rhes... DisGeNET Detail
Association between the CCR2-Val64Ile polymorphism and susceptibility to HIV-1 infection: a meta-ana... DisGeNET Detail
The frequency of CCR2-V64I and other chemokine and chemokine receptor polymorphisms in renal patholo... DisGeNET Detail
CCR2 V64I (G/A), monocyte chemoattractant protein-1 (MCP-1) -2518 A/G, stromal cell derived factor-1... DisGeNET Detail
Furthermore, SDF-1 3'A, CCR2A V64I and CXCR4 gene polymorphisms may contribute to the muscle invasiv... DisGeNET Detail
Furthermore, SDF-1 3'A, CCR2A V64I and CXCR4 gene polymorphisms may contribute to the muscle invasiv... DisGeNET Detail
In the present study, we investigated whether genetic variants of CCR2-V64I and CCR5-delta32 chemoki... DisGeNET Detail
Among active migraine with aura, the odds ratios (95% confidence intervals) were 1.35 (1.0 to 1.81) ... DisGeNET Detail
Among active migraine with aura, the odds ratios (95% confidence intervals) were 1.35 (1.0 to 1.81) ... DisGeNET Detail
Lack of association between monocyte protein-1 (MCP-1) -2518 A&gt;G chemoattractant and C-C chemokin... DisGeNET Detail
Among active migraine with aura, the odds ratios (95% confidence intervals) were 1.35 (1.0 to 1.81) ... DisGeNET Detail
Frequencies obtained were 23.8% for SDF1-3'A and 9.5% for CCR2-V64I for both HIV+ cohort and general... DisGeNET Detail
In the hypertensive group, CCR2 rs1799864, CCR5 rs1799987 and CCL11 rs4795895 were nominally associa... DisGeNET Detail
These data suggested that MCP-1 -2518A/G and CCR2 190G/A polymorphisms are new risk factors for RCC ... DisGeNET Detail
CCR2 V64I (G/A), monocyte chemoattractant protein-1 (MCP-1) -2518 A/G, stromal cell derived factor-1... DisGeNET Detail
Frequencies obtained were 23.8% for SDF1-3'A and 9.5% for CCR2-V64I for both HIV+ cohort and general... DisGeNET Detail
Among active migraine with aura, the odds ratios (95% confidence intervals) were 1.35 (1.0 to 1.81) ... DisGeNET Detail
Regarding any history of migraine, the multivariable-adjusted odds ratios (95% confidence intervals)... DisGeNET Detail
Regarding any history of migraine, the multivariable-adjusted odds ratios (95% confidence intervals)... DisGeNET Detail
Among active migraine with aura, the odds ratios (95% confidence intervals) were 1.35 (1.0 to 1.81) ... DisGeNET Detail
CCR2-V64I polymorphism is associated with increased risk of cervical cancer but not with HPV infecti... DisGeNET Detail
Four SNPs (CCR2-V64I, CCR5-2459, MIP1A+954, and IL2+3896) and specific haplotypes in the IL2 and CCR... DisGeNET Detail
CCR2-V64I polymorphism has been previously reported to influence the progression to cervical cancer ... DisGeNET Detail
CCL2-2518 A/G and CCR2 190 A/G do not influence the outcome of hepatitis C virus infection in the Sp... DisGeNET Detail
In the hypertensive group, CCR2 rs1799864, CCR5 rs1799987 and CCL11 rs4795895 were nominally associa... DisGeNET Detail
CCR2 V64I (G/A), monocyte chemoattractant protein-1 (MCP-1) -2518 A/G, stromal cell derived factor-1... DisGeNET Detail
The +190 G/A (rs1799864) polymorphism in the C-C chemokine receptor 2 (CCR2) gene is associated with... DisGeNET Detail
Examining an association between myocardial infarction (MI) and the Val/Ile polymorphism in the gene... DisGeNET Detail
Our results suggest that the genetic variants of SDF-1 3'A, CCR2A V64I and CCR5 Δ32 gene polymorphis... DisGeNET Detail
CCR2 V64I and CCR5 59029 (G/A) were detected by polymerase chain reaction-restriction fragment-lengt... DisGeNET Detail
Our results suggest that the genetic variants of SDF-1 3'A, CCR2A V64I and CCR5 Δ32 gene polymorphis... DisGeNET Detail
Among active migraine with aura, the odds ratios (95% confidence intervals) were 1.35 (1.0 to 1.81) ... DisGeNET Detail
Regarding any history of migraine, the multivariable-adjusted odds ratios (95% confidence intervals)... DisGeNET Detail
The combination of the MCP-1 CC homozygous genotype and the homozygotic or heterozygote CCR2 V64I ge... DisGeNET Detail
CCR2 V64I (G/A), monocyte chemoattractant protein-1 (MCP-1) -2518 A/G, stromal cell derived factor-1... DisGeNET Detail
Furthermore, SDF-1 3'A, CCR2A V64I and CXCR4 gene polymorphisms may contribute to the muscle invasiv... DisGeNET Detail
Among active migraine with aura, the odds ratios (95% confidence intervals) were 1.35 (1.0 to 1.81) ... DisGeNET Detail
We have studied in non-human primates (chimpanzee, gorilla, gibbon, orang-utan, crab-eating and rhes... DisGeNET Detail
The combination of the MCP-1 CC homozygous genotype and the homozygotic or heterozygote CCR2 V64I ge... DisGeNET Detail
Lack of association between monocyte protein-1 (MCP-1) -2518 A&gt;G chemoattractant and C-C chemokin... DisGeNET Detail
Our objective was to examine the association between myocardial infarction (MI) and two DNA-polymorp... DisGeNET Detail
Analysis of the involvement of CCR5-Delta32 and CCR2-V64I variants in the development of endometrios... DisGeNET Detail
The aim of the current study was to analyse the association of CCR2 +190 G/A (rs1799864) polymorphis... DisGeNET Detail
CCR2-V64I polymorphism is associated with increased risk of cervical cancer but not with HPV infecti... DisGeNET Detail
Furthermore, SDF-1 3'A, CCR2A V64I and CXCR4 gene polymorphisms may contribute to the muscle invasiv... DisGeNET Detail
CCL2-2518 A/G and CCR2 190 A/G do not influence the outcome of hepatitis C virus infection in the Sp... DisGeNET Detail
Among active migraine with aura, the odds ratios (95% confidence intervals) were 1.35 (1.0 to 1.81) ... DisGeNET Detail
Four SNPs (CCR2-V64I, CCR5-2459, MIP1A+954, and IL2+3896) and specific haplotypes in the IL2 and CCR... DisGeNET Detail
CCR2 V64I (G/A), monocyte chemoattractant protein-1 (MCP-1) -2518 A/G, stromal cell derived factor-1... DisGeNET Detail
The +190 G/A (rs1799864) polymorphism in the C-C chemokine receptor 2 (CCR2) gene is associated with... DisGeNET Detail
We have studied in non-human primates (chimpanzee, gorilla, gibbon, orang-utan, crab-eating and rhes... DisGeNET Detail
A single nucleotide polymorphism (SNP) at codon 64 in the CC chemokine receptor 2 gene (CCR2 V64I) h... DisGeNET Detail
Among active migraine with aura, the odds ratios (95% confidence intervals) were 1.35 (1.0 to 1.81) ... DisGeNET Detail
Among active migraine with aura, the odds ratios (95% confidence intervals) were 1.35 (1.0 to 1.81) ... DisGeNET Detail
[Variants in TNF, CCR2, TGFB1, NOS3, and IL9 were found to be associated with migraine but did not r... DisGeNET Detail
The role of the C-C chemokine receptor 2 gene polymorphism V64I (CCR2-64I) in sarcoidosis in a Japan... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1799864 dbSNP
Genome
hg38
Position
chr3:46,357,717-46,357,717
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
121.13
Standard deviation of sample read depth (HGVD)
52.35
Number of reference allele (HGVD)
1722
Number of alternative allele (HGVD)
698
Allele Frequency (HGVD)
0.2884297520661157
Gene Symbol (HGVD)
CCR2
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs1799864
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2796
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4686
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8630
East Asian Allele Counts (ExAC)
1786
East Asian Heterozygous Counts (ExAC)
1388
East Asian Homozygous Counts (ExAC)
199
East Asian Allele Frequency (ExAC)
0.20695249130938587
Chromosome Counts in All Race (ExAC)
121140
Allele Counts in All Race (ExAC)
15350
Heterozygous Counts in All Race (ExAC)
12966
Homozygous Counts in All Race (ExAC)
1192
Allele Frequency in All Race (ExAC)
0.12671289417203235
Genome browser