chr17:43911525:C>T Detail (hg19) (CRHR1, LINC02210-CRHR1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:43,911,525-43,911,525 |
hg38 | chr17:45,834,159-45,834,159 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001145147.1:c.987+111C>T | |
NM_001145146.1:c.1194+111C>T | ||
NM_004382.4:c.1107+111C>T |
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001256299.2:c.582+111C>T | |
Ensemble | ENST00000634540.1:c.582+111C>T |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:<0.001 | |
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 |
---|---|---|---|---|---|
0.087 | depressive disorder | The BclI and ER22/23EK single nucleotide polymorphisms (SNPs) of the GR and the ... | BeFree | 23726670 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
The BclI and ER22/23EK single nucleotide polymorphisms (SNPs) of the GR and the haplotype-tagged rs1... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs1876828 dbSNP
- Genome
- hg19
- Position
- chr17:43,911,525-43,911,525
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- 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))
- rs1876828
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0004
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 6
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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