chr2:241395503:T>C Detail (hg19) (GPC1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:241,395,503-241,395,503 |
| hg38 | chr2:240,456,086-240,456,086 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002081.2:c.167-2944T>C | |
| Ensemble | ENST00000264039.7:c.167-2944T>C | |
| ENST00000420138.5:c.-50-2944T>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.336 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.402 |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.004 | Malignant neoplasm of breast | To explore the relevance of miRNA polymorphisms and female physiological charact... | BeFree | 22074121 | Detail |
| 0.003 | renal cell carcinoma | miR-146a rs2910164, miR-149 rs2292832, miR-196a2 rs11614913 and miR-499 rs374644... | BeFree | 24681820 | Detail |
| <0.001 | Squamous cell carcinoma of the head and neck | The authors genotyped 4 common polymorphisms in pre-miRNAs: Homo sapiens miRNA 1... | BeFree | 20549817 | Detail |
| <0.001 | Coronary heart disease | We conducted a three-stage case-control study of CHD in Chinese to test our hypo... | BeFree | 19514064 | Detail |
| <0.001 | stage, non-small cell lung cancer | To test this hypothesis, we evaluated the effects of four SNPs in pre-miRNAs (pr... | BeFree | 23470291 | Detail |
| <0.001 | Carcinoma of lung | No clear consensus has been reached on the four single nucleotide polymorphisms ... | BeFree | 25077922 | Detail |
| 0.005 | Malignant neoplasm of breast | We evaluated the associations of selected four SNPs (rs2910164, rs2292832, rs116... | BeFree | 18634034 | Detail |
| 0.001 | Malignant neoplasm of breast | To explore the relevance of miRNA polymorphisms and female physiological charact... | BeFree | 22074121 | Detail |
| <0.001 | Kidney Failure, Chronic | The aim of this study was to investigate the impact of MIR146A C>G (rs2910164... | BeFree | 24978643 | Detail |
| <0.001 | anthracosis | In a case-control study of 496 CWP patients and 513 control subjects frequency m... | BeFree | 19881472 | Detail |
| <0.001 | Malignant neoplasm of lung | No clear consensus has been reached on the four single nucleotide polymorphisms ... | BeFree | 25077922 | Detail |
| <0.001 | Non-small cell lung carcinoma | To test this hypothesis, we evaluated the effects of four SNPs in pre-miRNAs (pr... | BeFree | 23470291 | Detail |
| 0.008 | Malignant neoplasm of breast | We evaluated the associations of selected four SNPs (rs2910164, rs2292832, rs116... | BeFree | 18634034 | Detail |
| <0.001 | Malignant neoplasm of lung | No clear consensus has been reached on the four single nucleotide polymorphisms ... | BeFree | 25077922 | Detail |
| 0.003 | Malignant neoplasm of breast | We evaluated the associations of selected four SNPs (rs2910164, rs2292832, rs116... | BeFree | 18634034 | Detail |
| 0.001 | Malignant neoplasm of stomach | We found that the risk for GC was significantly higher for the carriers of miR-1... | BeFree | 24379078 | Detail |
| <0.001 | Kidney Failure, Chronic | The aim of this study was to investigate the impact of MIR146A C>G (rs2910164... | BeFree | 24978643 | Detail |
| <0.001 | Kidney Failure, Chronic | The aim of this study was to investigate the impact of MIR146A C>G (rs2910164... | BeFree | 24978643 | Detail |
| 0.004 | breast carcinoma | We evaluated the associations of selected four SNPs (rs2910164, rs2292832, rs116... | BeFree | 18634034 | Detail |
| <0.001 | anthracosis | In a case-control study of 496 CWP patients and 513 control subjects frequency m... | BeFree | 19881472 | Detail |
| 0.005 | stomach carcinoma | The aim of the study was to investigated whether three common miRNA polymorphism... | BeFree | 24379078 | Detail |
| <0.001 | Squamous cell carcinoma of the head and neck | The authors genotyped 4 common polymorphisms in pre-miRNAs: Homo sapiens miRNA 1... | BeFree | 20549817 | Detail |
| <0.001 | breast carcinoma | To explore the relevance of miRNA polymorphisms and female physiological charact... | BeFree | 22074121 | Detail |
| <0.001 | Malignant neoplasm of breast | To explore the relevance of miRNA polymorphisms and female physiological charact... | BeFree | 22074121 | Detail |
| <0.001 | Squamous cell carcinoma of the head and neck | The authors genotyped 4 common polymorphisms in pre-miRNAs: Homo sapiens miRNA 1... | BeFree | 20549817 | Detail |
| 0.001 | stomach carcinoma | We found that the risk for GC was significantly higher for the carriers of miR-1... | BeFree | 24379078 | Detail |
| <0.001 | Non-small cell lung carcinoma | Here, we evaluated 101 paired samples (cancer and normal tissues) from non-small... | BeFree | 21902575 | Detail |
| 0.003 | breast carcinoma | We evaluated the associations of selected four SNPs (rs2910164, rs2292832, rs116... | BeFree | 18634034 | Detail |
| <0.001 | Squamous cell carcinoma of oropharynx | We found that statistically significant associations with HPV16-positive SCCOP a... | BeFree | 23219900 | Detail |
| 0.002 | breast carcinoma | To explore the relevance of miRNA polymorphisms and female physiological charact... | BeFree | 22074121 | Detail |
| 0.005 | Malignant neoplasm of stomach | The aim of the study was to investigated whether three common miRNA polymorphism... | BeFree | 24379078 | Detail |
| <0.001 | Coronary heart disease | We conducted a three-stage case-control study of CHD in Chinese to test our hypo... | BeFree | 19514064 | Detail |
| <0.001 | Non-small cell lung carcinoma | These results suggest that miR-149 and miR-196a may be involved in the pathogene... | BeFree | 23470291 | Detail |
| 0.002 | breast carcinoma | We evaluated the associations of selected four SNPs (rs2910164, rs2292832, rs116... | BeFree | 18634034 | Detail |
| 0.001 | breast carcinoma | To explore the relevance of miRNA polymorphisms and female physiological charact... | BeFree | 22074121 | Detail |
| <0.001 | Kidney Failure, Chronic | The aim of this study was to investigate the impact of MIR146A C>G (rs2910164... | BeFree | 24978643 | Detail |
| <0.001 | Carcinoma of lung | No clear consensus has been reached on the four single nucleotide polymorphisms ... | BeFree | 25077922 | Detail |
| 0.002 | breast carcinoma | However, for the miR-146a rs2910164 (G>C), miR-149 rs2292832 (G>T), miR-37... | BeFree | 23982873 | Detail |
| 0.001 | breast carcinoma | However, for the miR-146a rs2910164 (G>C), miR-149 rs2292832 (G>T), miR-37... | BeFree | 23982873 | Detail |
| 0.002 | Malignant neoplasm of breast | However, for the miR-146a rs2910164 (G>C), miR-149 rs2292832 (G>T), miR-37... | BeFree | 23982873 | Detail |
| <0.001 | Malignant neoplasm of breast | However, for the miR-146a rs2910164 (G>C), miR-149 rs2292832 (G>T), miR-37... | BeFree | 23982873 | Detail |
| 0.008 | Malignant neoplasm of breast | However, for the miR-146a rs2910164 (G>C), miR-149 rs2292832 (G>T), miR-37... | BeFree | 23982873 | Detail |
| 0.001 | Malignant neoplasm of breast | However, for the miR-146a rs2910164 (G>C), miR-149 rs2292832 (G>T), miR-37... | BeFree | 23982873 | Detail |
| 0.004 | breast carcinoma | However, for the miR-146a rs2910164 (G>C), miR-149 rs2292832 (G>T), miR-37... | BeFree | 23982873 | Detail |
| <0.001 | breast carcinoma | However, for the miR-146a rs2910164 (G>C), miR-149 rs2292832 (G>T), miR-37... | BeFree | 23982873 | Detail |
| <0.001 | T-Cell Lymphoma | Among the 13 SNPs, four (DROSHA rs6877842, DICER rs3742330, mir149 rs2292832, an... | BeFree | 24563077 | Detail |
| <0.001 | liver carcinoma | Association study of miR‑149 rs2292832 and miR‑608 rs4919510 and the risk of hep... | BeFree | 25190221 | Detail |
| <0.001 | anthracosis | These results suggest that miR-149 rs2292832 polymorphism is involved in suscept... | BeFree | 19881472 | Detail |
| <0.001 | T-Cell Lymphoma | Among the 13 SNPs, four (DROSHA rs6877842, DICER rs3742330, mir149 rs2292832, an... | BeFree | 24563077 | Detail |
| 0.001 | Malignant neoplasm of stomach | In summary, miR-27a rs895819 and miR-149 rs2292832 are of potential forewarning ... | BeFree | 25795117 | Detail |
| <0.001 | liver carcinoma | Association study of miR‑149 rs2292832 and miR‑608 rs4919510 and the risk of hep... | BeFree | 25190221 | Detail |
| 0.001 | stomach carcinoma | In summary, miR-27a rs895819 and miR-149 rs2292832 are of potential forewarning ... | BeFree | 25795117 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast c... | DisGeNET | Detail |
| miR-146a rs2910164, miR-149 rs2292832, miR-196a2 rs11614913 and miR-499 rs3746444) to assess their a... | DisGeNET | Detail |
| The authors genotyped 4 common polymorphisms in pre-miRNAs: Homo sapiens miRNA 146a (hsa-mir-146a) (... | DisGeNET | Detail |
| We conducted a three-stage case-control study of CHD in Chinese to test our hypothesis by genotyping... | DisGeNET | Detail |
| To test this hypothesis, we evaluated the effects of four SNPs in pre-miRNAs (pre-miR-146a rs2910164... | DisGeNET | Detail |
| No clear consensus has been reached on the four single nucleotide polymorphisms (miR-196a2 gene rs11... | DisGeNET | Detail |
| We evaluated the associations of selected four SNPs (rs2910164, rs2292832, rs11614913, and rs3746444... | DisGeNET | Detail |
| To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast c... | DisGeNET | Detail |
| The aim of this study was to investigate the impact of MIR146A C>G (rs2910164), MIR149 T>C (rs... | DisGeNET | Detail |
| In a case-control study of 496 CWP patients and 513 control subjects frequency matched by exposure y... | DisGeNET | Detail |
| No clear consensus has been reached on the four single nucleotide polymorphisms (miR-196a2 gene rs11... | DisGeNET | Detail |
| To test this hypothesis, we evaluated the effects of four SNPs in pre-miRNAs (pre-miR-146a rs2910164... | DisGeNET | Detail |
| We evaluated the associations of selected four SNPs (rs2910164, rs2292832, rs11614913, and rs3746444... | DisGeNET | Detail |
| No clear consensus has been reached on the four single nucleotide polymorphisms (miR-196a2 gene rs11... | DisGeNET | Detail |
| We evaluated the associations of selected four SNPs (rs2910164, rs2292832, rs11614913, and rs3746444... | DisGeNET | Detail |
| We found that the risk for GC was significantly higher for the carriers of miR-149 rs2292832CC (p = ... | DisGeNET | Detail |
| The aim of this study was to investigate the impact of MIR146A C>G (rs2910164), MIR149 T>C (rs... | DisGeNET | Detail |
| The aim of this study was to investigate the impact of MIR146A C>G (rs2910164), MIR149 T>C (rs... | DisGeNET | Detail |
| We evaluated the associations of selected four SNPs (rs2910164, rs2292832, rs11614913, and rs3746444... | DisGeNET | Detail |
| In a case-control study of 496 CWP patients and 513 control subjects frequency matched by exposure y... | DisGeNET | Detail |
| The aim of the study was to investigated whether three common miRNA polymorphisms [miR-146a C>G (... | DisGeNET | Detail |
| The authors genotyped 4 common polymorphisms in pre-miRNAs: Homo sapiens miRNA 146a (hsa-mir-146a) (... | DisGeNET | Detail |
| To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast c... | DisGeNET | Detail |
| To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast c... | DisGeNET | Detail |
| The authors genotyped 4 common polymorphisms in pre-miRNAs: Homo sapiens miRNA 146a (hsa-mir-146a) (... | DisGeNET | Detail |
| We found that the risk for GC was significantly higher for the carriers of miR-149 rs2292832CC (p = ... | DisGeNET | Detail |
| Here, we evaluated 101 paired samples (cancer and normal tissues) from non-small cell lung carcinoma... | DisGeNET | Detail |
| We evaluated the associations of selected four SNPs (rs2910164, rs2292832, rs11614913, and rs3746444... | DisGeNET | Detail |
| We found that statistically significant associations with HPV16-positive SCCOP and survival were fou... | DisGeNET | Detail |
| To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast c... | DisGeNET | Detail |
| The aim of the study was to investigated whether three common miRNA polymorphisms [miR-146a C>G (... | DisGeNET | Detail |
| We conducted a three-stage case-control study of CHD in Chinese to test our hypothesis by genotyping... | DisGeNET | Detail |
| These results suggest that miR-149 and miR-196a may be involved in the pathogenesis of NSCLC, and th... | DisGeNET | Detail |
| We evaluated the associations of selected four SNPs (rs2910164, rs2292832, rs11614913, and rs3746444... | DisGeNET | Detail |
| To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast c... | DisGeNET | Detail |
| The aim of this study was to investigate the impact of MIR146A C>G (rs2910164), MIR149 T>C (rs... | DisGeNET | Detail |
| No clear consensus has been reached on the four single nucleotide polymorphisms (miR-196a2 gene rs11... | DisGeNET | Detail |
| However, for the miR-146a rs2910164 (G>C), miR-149 rs2292832 (G>T), miR-373 rs12983273 (C>T... | DisGeNET | Detail |
| However, for the miR-146a rs2910164 (G>C), miR-149 rs2292832 (G>T), miR-373 rs12983273 (C>T... | DisGeNET | Detail |
| However, for the miR-146a rs2910164 (G>C), miR-149 rs2292832 (G>T), miR-373 rs12983273 (C>T... | DisGeNET | Detail |
| However, for the miR-146a rs2910164 (G>C), miR-149 rs2292832 (G>T), miR-373 rs12983273 (C>T... | DisGeNET | Detail |
| However, for the miR-146a rs2910164 (G>C), miR-149 rs2292832 (G>T), miR-373 rs12983273 (C>T... | DisGeNET | Detail |
| However, for the miR-146a rs2910164 (G>C), miR-149 rs2292832 (G>T), miR-373 rs12983273 (C>T... | DisGeNET | Detail |
| However, for the miR-146a rs2910164 (G>C), miR-149 rs2292832 (G>T), miR-373 rs12983273 (C>T... | DisGeNET | Detail |
| However, for the miR-146a rs2910164 (G>C), miR-149 rs2292832 (G>T), miR-373 rs12983273 (C>T... | DisGeNET | Detail |
| Among the 13 SNPs, four (DROSHA rs6877842, DICER rs3742330, mir149 rs2292832, and mir499 rs3746444) ... | DisGeNET | Detail |
| Association study of miR‑149 rs2292832 and miR‑608 rs4919510 and the risk of hepatocellular carcinom... | DisGeNET | Detail |
| These results suggest that miR-149 rs2292832 polymorphism is involved in susceptibility to developin... | DisGeNET | Detail |
| Among the 13 SNPs, four (DROSHA rs6877842, DICER rs3742330, mir149 rs2292832, and mir499 rs3746444) ... | DisGeNET | Detail |
| In summary, miR-27a rs895819 and miR-149 rs2292832 are of potential forewarning ability for gastric ... | DisGeNET | Detail |
| Association study of miR‑149 rs2292832 and miR‑608 rs4919510 and the risk of hepatocellular carcinom... | DisGeNET | Detail |
| In summary, miR-27a rs895819 and miR-149 rs2292832 are of potential forewarning ability for gastric ... | 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
- rs2292832 dbSNP
- Genome
- hg19
- Position
- chr2:241,395,503-241,395,503
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- 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))
- rs2292832
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3364
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5634
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16750
- East Asian Chromosome Counts (ExAC)
- 164
- East Asian Allele Counts (ExAC)
- 66
- East Asian Heterozygous Counts (ExAC)
- 42
- East Asian Homozygous Counts (ExAC)
- 12
- East Asian Allele Frequency (ExAC)
- 0.4024390243902439
- Chromosome Counts in All Race (ExAC)
- 4342
- Allele Counts in All Race (ExAC)
- 2658
- Heterozygous Counts in All Race (ExAC)
- 1088
- Homozygous Counts in All Race (ExAC)
- 785
- Allele Frequency in All Race (ExAC)
- 0.6121602947950253
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