chr1:161202605:G>A Detail (hg19) (NR1I3)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:161,202,605-161,202,605 |
hg38 | chr1:161,232,815-161,232,815 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001077470.2:c.453C>T | NP_001070938.1:p.Pro151= |
NM_001077471.2:c.540C>T | NP_001070939.1:p.Pro180= | |
NM_001077476.2:c.453C>T | NP_001070944.1:p.Pro151= |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.536 |
ToMMo:0.535 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.536 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | HIV Infections | In this study, we investigated the effects of CYP2B6 516G>T (rs3745274), CYP2... | BeFree | 24831655 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_005122.5(NR1I3):c.540C>T (p.Pro180=) AND not specified | ClinVar | Detail |
NM_005122.5(NR1I3):c.540C>T (p.Pro180=) AND NR1I3-related disorder | ClinVar | Detail |
In this study, we investigated the effects of CYP2B6 516G>T (rs3745274), CYP2B6 c.485-18C>T (r... | 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
- -
- dbSNP
- rs2307424 dbSNP
- Genome
- hg19
- Position
- chr1:161,202,605-161,202,605
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1204
- Mean of sample read depth (HGVD)
- 132.16
- Standard deviation of sample read depth (HGVD)
- 62.51
- Number of reference allele (HGVD)
- 1118
- Number of alternative allele (HGVD)
- 1289
- Allele Frequency (HGVD)
- 0.5355213959285418
- Gene Symbol (HGVD)
- NR1I3
- 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))
- rs2307424
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5348
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 8962
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 8634
- East Asian Allele Counts (ExAC)
- 4630
- East Asian Heterozygous Counts (ExAC)
- 2106
- East Asian Homozygous Counts (ExAC)
- 1262
- East Asian Allele Frequency (ExAC)
- 0.5362520268705119
- Chromosome Counts in All Race (ExAC)
- 121348
- Allele Counts in All Race (ExAC)
- 42888
- Heterozygous Counts in All Race (ExAC)
- 26544
- Homozygous Counts in All Race (ExAC)
- 8172
- Allele Frequency in All Race (ExAC)
- 0.3534298051883838
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