chr10:94306584:A>G Detail (hg38) (PLCE1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:96,066,341-96,066,341 View the variant detail on this assembly version. |
| hg38 | chr10:94,306,584-94,306,584 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001288989.1:c.5780A>G | NP_001275918.1:p.His1927Arg |
| NM_016341.3:c.5780A>G | NP_057425.3:p.His1927Arg | |
| NM_001165979.2:c.4754A>G | NP_001159451.1:p.His1585Arg |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.259 |
| ToMMo:0.251 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.236 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
criteria provided, single submitter | not specified |
germline
|
Detail | |
|
Benign
|
2021-10-25 | criteria provided, multiple submitters, no conflicts | Nephrotic syndrome, type 3 |
germline
|
Detail |
|
Benign
|
2024-01-31 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Benign
|
2022-09-27 | criteria provided, single submitter |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.001 | gallbladder carcinoma | Multidimensional reduction analysis revealed LXR-β (rs3546355 G > A, rs269512... | BeFree | 24863943 | Detail |
| <0.001 | gallbladder carcinoma | Multidimensional reduction analysis revealed LXR-β (rs3546355 G > A, rs269512... | BeFree | 24863943 | Detail |
| <0.001 | Malignant neoplasm of gallbladder | Multidimensional reduction analysis revealed LXR-β (rs3546355 G > A, rs269512... | BeFree | 24863943 | Detail |
| 0.001 | Malignant neoplasm of gallbladder | Multidimensional reduction analysis revealed LXR-β (rs3546355 G > A, rs269512... | BeFree | 24863943 | Detail |
| 0.245 | Squamous cell carcinoma of esophagus | This meta-analysis demonstrated that PLCE1 rs2274223 A > G polymorphism may b... | BeFree | 25614244 | Detail |
| 0.124 | Malignant neoplasm of stomach | In this meta-analysis, the PLCE1 rs2274223 polymorphism was confirmed to have a ... | BeFree | 23826241 | Detail |
| 0.245 | Squamous cell carcinoma of esophagus | Our meta-analysis results indicated that PLCE1 rs2274223 G allele significantly ... | BeFree | 23874915 | Detail |
| 0.245 | Squamous cell carcinoma of esophagus | In contrast to the modulation of the risk of ESCC in Asians, it is unlikely that... | BeFree | 23222411 | Detail |
| 0.001 | gastric cardia adenocarcinoma | Three large-scale genome-wide association studies (GWAS) have identified a share... | BeFree | 24874112 | Detail |
| 0.003 | esophageal carcinoma | PLCE1 rs2274223 polymorphism and susceptibility to esophageal cancer: a meta-ana... | BeFree | 25422186 | Detail |
| 0.122 | Squamous cell carcinoma of esophagus | In contrast to the modulation of the risk of ESCC in Asians, it is unlikely that... | BeFree | 23222411 | Detail |
| 0.004 | stomach carcinoma | In this meta-analysis, the PLCE1 rs2274223 polymorphism was confirmed to have a ... | BeFree | 23826241 | Detail |
| 0.009 | squamous cell carcinoma | In this meta-analysis, the PLCE1 rs2274223 polymorphism was confirmed to have a ... | BeFree | 23826241 | Detail |
| 0.001 | Giant Cell Arteritis | In conclusion, PLCE1 rs2274223 polymorphism may be used as a potential biomarker... | BeFree | 24874112 | Detail |
| <0.001 | Malignant Squamous Cell Neoplasm | Similarly, rs2274223 in PLCE1 was associated with a reduced risk of oesophageal ... | BeFree | 22805490 | Detail |
| <0.001 | Esophageal Neoplasms | A single-nucleotide polymorphism (rs2274223: A5780G:His1927Arg) in the phospholi... | BeFree | 23390063 | Detail |
| 0.130 | Malignant neoplasm of stomach | The aim of this study was to determine whether rs4072037A > G in MUC1 at 1q22... | BeFree | 24254309 | Detail |
| 0.003 | esophageal carcinoma | Heterozygote of PLCE1 rs2274223 increases susceptibility to human papillomavirus... | BeFree | 24127316 | Detail |
| 0.010 | Esophageal Neoplasms | PLCE1 rs2274223 polymorphism and susceptibility to esophageal cancer: a meta-ana... | BeFree | 25422186 | Detail |
| 0.245 | Squamous cell carcinoma of esophagus | Joint analysis of three genome-wide association studies of esophageal squamous c... | GWASCAT | 25129146 | Detail |
| 0.123 | adenocarcinoma | Similarly, rs2274223 in PLCE1 was associated with a reduced risk of oesophageal ... | BeFree | 22805490 | Detail |
| 0.128 | Malignant neoplasm of esophagus | Genome-wide association study identifies three new susceptibility loci for esoph... | GWASCAT | 21642993 | Detail |
| 0.245 | Squamous cell carcinoma of esophagus | In conclusion, PLCE1 rs2274223 polymorphism may be used as a potential biomarker... | BeFree | 24874112 | Detail |
| <0.001 | Adenocarcinoma Of Esophagus | In contrast to the modulation of the risk of ESCC in Asians, it is unlikely that... | BeFree | 23222411 | Detail |
| 0.124 | Malignant neoplasm of stomach | The aim of this study was to determine whether rs4072037A > G in MUC1 at 1q22... | BeFree | 24254309 | Detail |
| <0.001 | Malignant neoplasm of esophagus | A single-nucleotide polymorphism (rs2274223: A5780G:His1927Arg) in the phospholi... | BeFree | 23390063 | Detail |
| 0.010 | Esophageal Neoplasms | [Genome-wide association study identifies three new susceptibility loci for esop... | GAD | 21642993 | Detail |
| 0.124 | Malignant neoplasm of stomach | Recently, a single nucleotide polymorphism (rs2274223 A>G) in PLCE1 was repor... | BeFree | 23797815 | Detail |
| 0.245 | Squamous cell carcinoma of esophagus | A single nucleotide polymorphism (SNP, rs2274223) in PLCE1 has been identified a... | BeFree | 21689432 | Detail |
| 0.004 | stomach carcinoma | A notable signal was rs2274223, a nonsynonymous SNP located in PLCE1, for gastri... | BeFree | 20729852 | Detail |
| 0.010 | Esophageal Neoplasms | However, three genome-wide association studies of esophageal cancer have identif... | BeFree | 24127316 | Detail |
| 0.010 | Esophageal Neoplasms | Phospholipase C epsilon 1 (PLCE1 rs2274223A>G, rs3765524C>T and rs7922612C... | BeFree | 24935391 | Detail |
| 0.003 | esophageal carcinoma | PLCE1 rs2274223 polymorphism contributes to risk of esophageal cancer: evidence ... | BeFree | 24737582 | Detail |
| 0.010 | Esophageal Neoplasms | PLCE1 rs2274223 polymorphism contributes to risk of esophageal cancer: evidence ... | BeFree | 24737582 | Detail |
| 0.004 | stomach carcinoma | The aim of this study was to determine whether rs4072037A > G in MUC1 at 1q22... | BeFree | 24254309 | Detail |
| 0.128 | Malignant neoplasm of esophagus | Phospholipase C epsilon 1 (PLCE1 rs2274223A>G, rs3765524C>T and rs7922612C... | BeFree | 24935391 | Detail |
| 0.011 | stomach carcinoma | The aim of this study was to determine whether rs4072037A > G in MUC1 at 1q22... | BeFree | 24254309 | Detail |
| 0.001 | Giant Cell Arteritis | A single nucleotide polymorphism (SNP, rs2274223) in PLCE1 has been identified a... | BeFree | 21689432 | Detail |
| 0.128 | Malignant neoplasm of esophagus | However, three genome-wide association studies of esophageal cancer have identif... | BeFree | 24127316 | Detail |
| <0.001 | gastritis | Herein, we aimed to evaluate associations between PSCA (C>T, rs2294008; G>... | BeFree | 25503145 | Detail |
| 0.124 | Malignant neoplasm of stomach | A notable signal was rs2274223, a nonsynonymous SNP located in PLCE1, for gastri... | BeFree | 20729852 | Detail |
| 0.128 | Malignant neoplasm of esophagus | PLCE1 rs2274223 polymorphism and susceptibility to esophageal cancer: a meta-ana... | BeFree | 25422186 | Detail |
| 0.009 | squamous cell carcinoma | Similarly, rs2274223 in PLCE1 was associated with a reduced risk of oesophageal ... | BeFree | 22805490 | Detail |
| 0.001 | gastric cardia adenocarcinoma | A single nucleotide polymorphism (SNP, rs2274223) in PLCE1 has been identified a... | BeFree | 21689432 | Detail |
| <0.001 | gastric cardia carcinoma | In a subgroup analysis, the PLCE1 rs2274223 polymorphism was found to be a very ... | BeFree | 23826241 | Detail |
| 0.128 | Malignant neoplasm of esophagus | PLCE1 rs2274223 polymorphism contributes to risk of esophageal cancer: evidence ... | BeFree | 24737582 | Detail |
| 0.003 | esophageal carcinoma | Phospholipase C epsilon 1 (PLCE1 rs2274223A>G, rs3765524C>T and rs7922612C... | BeFree | 24935391 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_016341.4(PLCE1):c.5780A>G (p.His1927Arg) AND not specified | ClinVar | Detail |
| NM_016341.4(PLCE1):c.5780A>G (p.His1927Arg) AND Nephrotic syndrome, type 3 | ClinVar | Detail |
| NM_016341.4(PLCE1):c.5780A>G (p.His1927Arg) AND not provided | ClinVar | Detail |
| NM_016341.4(PLCE1):c.5780A>G (p.His1927Arg) AND Focal segmental glomerulosclerosis | ClinVar | Detail |
| Multidimensional reduction analysis revealed LXR-β (rs3546355 G > A, rs2695121 T > C), MMP-2 (... | DisGeNET | Detail |
| Multidimensional reduction analysis revealed LXR-β (rs3546355 G > A, rs2695121 T > C), MMP-2 (... | DisGeNET | Detail |
| Multidimensional reduction analysis revealed LXR-β (rs3546355 G > A, rs2695121 T > C), MMP-2 (... | DisGeNET | Detail |
| Multidimensional reduction analysis revealed LXR-β (rs3546355 G > A, rs2695121 T > C), MMP-2 (... | DisGeNET | Detail |
| This meta-analysis demonstrated that PLCE1 rs2274223 A > G polymorphism may be associated with in... | DisGeNET | Detail |
| In this meta-analysis, the PLCE1 rs2274223 polymorphism was confirmed to have a statistically signif... | DisGeNET | Detail |
| Our meta-analysis results indicated that PLCE1 rs2274223 G allele significantly contributed to the r... | DisGeNET | Detail |
| In contrast to the modulation of the risk of ESCC in Asians, it is unlikely that the PLCE1 rs2274223... | DisGeNET | Detail |
| Three large-scale genome-wide association studies (GWAS) have identified a shared susceptibility var... | DisGeNET | Detail |
| PLCE1 rs2274223 polymorphism and susceptibility to esophageal cancer: a meta-analysis. | DisGeNET | Detail |
| In contrast to the modulation of the risk of ESCC in Asians, it is unlikely that the PLCE1 rs2274223... | DisGeNET | Detail |
| In this meta-analysis, the PLCE1 rs2274223 polymorphism was confirmed to have a statistically signif... | DisGeNET | Detail |
| In this meta-analysis, the PLCE1 rs2274223 polymorphism was confirmed to have a statistically signif... | DisGeNET | Detail |
| In conclusion, PLCE1 rs2274223 polymorphism may be used as a potential biomarker for DTC susceptibil... | DisGeNET | Detail |
| Similarly, rs2274223 in PLCE1 was associated with a reduced risk of oesophageal squamous cell cancer... | DisGeNET | Detail |
| A single-nucleotide polymorphism (rs2274223: A5780G:His1927Arg) in the phospholipase C epsilon gene ... | DisGeNET | Detail |
| The aim of this study was to determine whether rs4072037A > G in MUC1 at 1q22 and rs2274223A >... | DisGeNET | Detail |
| Heterozygote of PLCE1 rs2274223 increases susceptibility to human papillomavirus infection in patien... | DisGeNET | Detail |
| PLCE1 rs2274223 polymorphism and susceptibility to esophageal cancer: a meta-analysis. | DisGeNET | Detail |
| Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chi... | DisGeNET | Detail |
| Similarly, rs2274223 in PLCE1 was associated with a reduced risk of oesophageal squamous cell cancer... | DisGeNET | Detail |
| Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell ... | DisGeNET | Detail |
| In conclusion, PLCE1 rs2274223 polymorphism may be used as a potential biomarker for DTC susceptibil... | DisGeNET | Detail |
| In contrast to the modulation of the risk of ESCC in Asians, it is unlikely that the PLCE1 rs2274223... | DisGeNET | Detail |
| The aim of this study was to determine whether rs4072037A > G in MUC1 at 1q22 and rs2274223A >... | DisGeNET | Detail |
| A single-nucleotide polymorphism (rs2274223: A5780G:His1927Arg) in the phospholipase C epsilon gene ... | DisGeNET | Detail |
| [Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell... | DisGeNET | Detail |
| Recently, a single nucleotide polymorphism (rs2274223 A>G) in PLCE1 was reported as a novel susce... | DisGeNET | Detail |
| A single nucleotide polymorphism (SNP, rs2274223) in PLCE1 has been identified as a novel susceptibi... | DisGeNET | Detail |
| A notable signal was rs2274223, a nonsynonymous SNP located in PLCE1, for gastric cancer (P = 8.40 x... | DisGeNET | Detail |
| However, three genome-wide association studies of esophageal cancer have identified a shared suscept... | DisGeNET | Detail |
| Phospholipase C epsilon 1 (PLCE1 rs2274223A>G, rs3765524C>T and rs7922612C>T) polymorphisms... | DisGeNET | Detail |
| PLCE1 rs2274223 polymorphism contributes to risk of esophageal cancer: evidence based on a meta-anal... | DisGeNET | Detail |
| PLCE1 rs2274223 polymorphism contributes to risk of esophageal cancer: evidence based on a meta-anal... | DisGeNET | Detail |
| The aim of this study was to determine whether rs4072037A > G in MUC1 at 1q22 and rs2274223A >... | DisGeNET | Detail |
| Phospholipase C epsilon 1 (PLCE1 rs2274223A>G, rs3765524C>T and rs7922612C>T) polymorphisms... | DisGeNET | Detail |
| The aim of this study was to determine whether rs4072037A > G in MUC1 at 1q22 and rs2274223A >... | DisGeNET | Detail |
| A single nucleotide polymorphism (SNP, rs2274223) in PLCE1 has been identified as a novel susceptibi... | DisGeNET | Detail |
| However, three genome-wide association studies of esophageal cancer have identified a shared suscept... | DisGeNET | Detail |
| Herein, we aimed to evaluate associations between PSCA (C>T, rs2294008; G>A, rs2976392), MUC1 ... | DisGeNET | Detail |
| A notable signal was rs2274223, a nonsynonymous SNP located in PLCE1, for gastric cancer (P = 8.40 x... | DisGeNET | Detail |
| PLCE1 rs2274223 polymorphism and susceptibility to esophageal cancer: a meta-analysis. | DisGeNET | Detail |
| Similarly, rs2274223 in PLCE1 was associated with a reduced risk of oesophageal squamous cell cancer... | DisGeNET | Detail |
| A single nucleotide polymorphism (SNP, rs2274223) in PLCE1 has been identified as a novel susceptibi... | DisGeNET | Detail |
| In a subgroup analysis, the PLCE1 rs2274223 polymorphism was found to be a very sensitive marker for... | DisGeNET | Detail |
| PLCE1 rs2274223 polymorphism contributes to risk of esophageal cancer: evidence based on a meta-anal... | DisGeNET | Detail |
| Phospholipase C epsilon 1 (PLCE1 rs2274223A>G, rs3765524C>T and rs7922612C>T) polymorphisms... | 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
- rs2274223 dbSNP
- Genome
- hg38
- Position
- chr10:94,306,584-94,306,584
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 76.23
- Standard deviation of sample read depth (HGVD)
- 38.78
- Number of reference allele (HGVD)
- 1794
- Number of alternative allele (HGVD)
- 626
- Allele Frequency (HGVD)
- 0.25867768595041324
- Gene Symbol (HGVD)
- PLCE1
- 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))
- rs2274223
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2506
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4200
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8590
- East Asian Allele Counts (ExAC)
- 2024
- East Asian Heterozygous Counts (ExAC)
- 1564
- East Asian Homozygous Counts (ExAC)
- 230
- East Asian Allele Frequency (ExAC)
- 0.23562281722933645
- Chromosome Counts in All Race (ExAC)
- 120732
- Allele Counts in All Race (ExAC)
- 34355
- Heterozygous Counts in All Race (ExAC)
- 23929
- Homozygous Counts in All Race (ExAC)
- 5213
- Allele Frequency in All Race (ExAC)
- 0.28455587582413944
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