chr3:119807356:G>A Detail (hg38) (NR1I2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:119,526,203-119,526,203 View the variant detail on this assembly version. |
hg38 | chr3:119,807,356-119,807,356 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_022002.2:c.223G>A | NP_071285.1:p.Gly75Arg |
NM_003889.3:c.106G>A | NP_003880.3:p.Gly36Arg | |
NM_033013.2:c.106G>A | NP_148934.1:p.Gly36Arg |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
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 |
---|---|---|---|---|---|
0.007 | Crohn Disease | Genomic DNA from 2823 individuals of Caucasian origin including 859 patients wit... | BeFree | 21830270 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Genomic DNA from 2823 individuals of Caucasian origin including 859 patients with Crohn's disease (C... | 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
- hg38
- Position
- chr3:119,807,356-119,807,356
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.1555350127108852E-4
- Chromosome Counts in All Race (ExAC)
- 121398
- Allele Counts in All Race (ExAC)
- 1774
- Heterozygous Counts in All Race (ExAC)
- 1736
- Homozygous Counts in All Race (ExAC)
- 19
- Allele Frequency in All Race (ExAC)
- 0.014613090825219525
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