chr1:46871986:T>C Detail (hg19) (FAAH)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:46,871,986-46,871,986 |
| hg38 | chr1:46,406,314-46,406,314 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001441.2:c.897T>C | NP_001432.2:p.Cys299= |
| Ensemble | ENST00000243167.9:c.897T>C | ENST00000243167.9:p.Cys299= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.999 |
| ToMMo:1.000 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.998 |
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 | Pediatric Obesity | The trio analysis revealed some evidence for an association of three SNPs in FAA... | BeFree | 20044928 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The trio analysis revealed some evidence for an association of three SNPs in FAAH (rs324420 rs324419... | 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
- -
- Genome
- hg19
- Position
- chr1:46,871,986-46,871,986
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1208
- Mean of sample read depth (HGVD)
- 221.54
- Standard deviation of sample read depth (HGVD)
- 111.68
- Number of reference allele (HGVD)
- 3
- Number of alternative allele (HGVD)
- 2413
- Allele Frequency (HGVD)
- 0.9987582781456954
- Gene Symbol (HGVD)
- FAAH
- 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))
- rs324419
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8652
- East Asian Allele Counts (ExAC)
- 8634
- East Asian Heterozygous Counts (ExAC)
- 18
- East Asian Homozygous Counts (ExAC)
- 4308
- East Asian Allele Frequency (ExAC)
- 0.9979195561719834
- Chromosome Counts in All Race (ExAC)
- 121354
- Allele Counts in All Race (ExAC)
- 104275
- Heterozygous Counts in All Race (ExAC)
- 14201
- Homozygous Counts in All Race (ExAC)
- 45037
- Allele Frequency in All Race (ExAC)
- 0.8592629826787745
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