chr1:161234427:A>G Detail (hg38) (NR1I3)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:161,204,217-161,204,217 View the variant detail on this assembly version. |
hg38 | chr1:161,234,427-161,234,427 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001077469.2:c.239-1089T>C | |
NM_001077478.2:c.239-1089T>C | ||
NM_001077480.2:c.239-1089T>C |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.597 | |
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 |
---|---|---|---|---|---|
<0.001 | HIV Infections | In this study, we investigated the effects of CYP2B6 516G>T (rs3745274), CYP2... | BeFree | 24831655 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
In this study, we investigated the effects of CYP2B6 516G>T (rs3745274), CYP2B6 c.485-18C>T (r... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs3003596 dbSNP
- Genome
- hg38
- Position
- chr1:161,234,427-161,234,427
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- 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))
- rs3003596
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5972
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 10009
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser