chr1:157670290:C>G Detail (hg19) (FCRL3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:157,670,290-157,670,290 |
| hg38 | chr1:157,700,500-157,700,500 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001320333.1:c.-11G>C | |
| NM_052939.3:c.-11G>C | ||
| Ensemble | ENST00000368186.9:c.-11G>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.397 |
| ToMMo:0.383 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.402 |
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 | neuromyelitis optica | The Fc Receptor-Like 3 Polymorphisms (rs7528684, rs945635, rs3761959 and rs22822... | BeFree | 26402798 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The Fc Receptor-Like 3 Polymorphisms (rs7528684, rs945635, rs3761959 and rs2282284) and The Risk of ... | 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
- chr1:157,670,290-157,670,290
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 836
- Mean of sample read depth (HGVD)
- 24.19
- Standard deviation of sample read depth (HGVD)
- 10.93
- Number of reference allele (HGVD)
- 1008
- Number of alternative allele (HGVD)
- 664
- Allele Frequency (HGVD)
- 0.39712918660287083
- Gene Symbol (HGVD)
- FCRL3
- 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))
- rs945635
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3827
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 6414
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8600
- East Asian Allele Counts (ExAC)
- 3461
- East Asian Heterozygous Counts (ExAC)
- 2041
- East Asian Homozygous Counts (ExAC)
- 710
- East Asian Allele Frequency (ExAC)
- 0.40244186046511626
- Chromosome Counts in All Race (ExAC)
- 120922
- Allele Counts in All Race (ExAC)
- 54900
- Heterozygous Counts in All Race (ExAC)
- 27756
- Homozygous Counts in All Race (ExAC)
- 13571
- Allele Frequency in All Race (ExAC)
- 0.4540116769487769
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