chr3:155548315:T>C Detail (hg38) (PLCH1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:155,266,104-155,266,104 View the variant detail on this assembly version. |
| hg38 | chr3:155,548,315-155,548,315 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_014996.2:c.1272+1472A>G | |
| NM_001130960.1:c.1326+1472A>G | ||
| NM_001130961.1:c.1326+1472A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.383 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
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 |
|---|---|---|---|---|---|
| <0.001 | squamous cell carcinoma | Moreover, the PLCH1 rs181696 SNP was strongly associated with an increased risk ... | BeFree | 22658813 | Detail |
| <0.001 | adenocarcinoma | The G/G homozygous genotype in COMT rs4680 and A/A homozygous genotype in PLCH1 ... | BeFree | 22658813 | Detail |
| <0.001 | squamous cell carcinoma | The G/G homozygous genotype in COMT rs4680 and A/A homozygous genotype in PLCH1 ... | BeFree | 22658813 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Moreover, the PLCH1 rs181696 SNP was strongly associated with an increased risk of SQC, which sugges... | DisGeNET | Detail |
| The G/G homozygous genotype in COMT rs4680 and A/A homozygous genotype in PLCH1 rs181696 were associ... | DisGeNET | Detail |
| The G/G homozygous genotype in COMT rs4680 and A/A homozygous genotype in PLCH1 rs181696 were associ... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs181696 dbSNP
- Genome
- hg38
- Position
- chr3:155,548,315-155,548,315
- 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))
- rs181696
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3828
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 6415
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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