chr11:67586373:C>T Detail (hg38) (GSTP1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:67,353,844-67,353,844 View the variant detail on this assembly version. |
| hg38 | chr11:67,586,373-67,586,373 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.141 |
| ToMMo:0.134 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.154 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2021-06-19 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000852.4(GSTP1):c.445-16C>T AND not provided | ClinVar | Detail |
| Chromosome 11 haplotype CTACGAGGCC (corresponding to MS4A2 rs574700, rs1441586, rs556917, rs502581, ... | DisGeNET | Detail |
| Chromosome 11 haplotype CTACGAGGCC (corresponding to MS4A2 rs574700, rs1441586, rs556917, rs502581, ... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs1871042 dbSNP
- Genome
- hg38
- Position
- chr11:67,586,373-67,586,373
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 837
- Mean of sample read depth (HGVD)
- 192.12
- Standard deviation of sample read depth (HGVD)
- 92.00
- Number of reference allele (HGVD)
- 1438
- Number of alternative allele (HGVD)
- 236
- Allele Frequency (HGVD)
- 0.14097968936678615
- Gene Symbol (HGVD)
- GSTP1
- 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))
- rs1871042
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.134
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2245
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 8574
- East Asian Allele Counts (ExAC)
- 1322
- East Asian Heterozygous Counts (ExAC)
- 1106
- East Asian Homozygous Counts (ExAC)
- 108
- East Asian Allele Frequency (ExAC)
- 0.15418707721017028
- Chromosome Counts in All Race (ExAC)
- 117414
- Allele Counts in All Race (ExAC)
- 33801
- Heterozygous Counts in All Race (ExAC)
- 23569
- Homozygous Counts in All Race (ExAC)
- 5116
- Allele Frequency in All Race (ExAC)
- 0.2878787878787879
Genome browser