chr6:161609016:T>C Detail (hg19) (AGPAT4)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr6:161,609,016-161,609,016 |
hg38 | chr6:161,187,984-161,187,984 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_020133.2:c.179-21567A>G | |
Ensemble | ENST00000320285.9:c.179-21567A>G | |
ENST00000366905.3:c.179-21567A>G |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.259 | |
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 |
---|---|---|---|---|---|
0.080 | post-traumatic stress disorder | Using q-value analysis for multiplicity correction, we found significant interac... | BeFree | 17570738 | Detail |
<0.001 | post-traumatic stress disorder | Using q-value analysis for multiplicity correction, we found significant interac... | BeFree | 17570738 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Using q-value analysis for multiplicity correction, we found significant interactions between lithiu... | DisGeNET | Detail |
Using q-value analysis for multiplicity correction, we found significant interactions between lithiu... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs2064721 dbSNP
- Genome
- hg19
- Position
- chr6:161,609,016-161,609,016
- 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))
- rs2064721
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2594
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4347
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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