chrX:18667653:C>T Detail (hg38) (RS1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrX:18,685,773-18,685,773 View the variant detail on this assembly version. |
| hg38 | chrX:18,667,653-18,667,653 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000330.3:c.52+4364G>A | |
| Ensemble | ENST00000379984.4:c.52+4364G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.577 | |
| 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
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The aim of this study was to evaluate the effect of the G3057A (rs62589000) LEPR polymorphism on obe... | DisGeNET | Detail |
| The aim of this study was to evaluate the effect of the G3057A (rs62589000) LEPR polymorphism on obe... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs62589000 dbSNP
- Genome
- hg38
- Position
- chrX:18,667,653-18,667,653
- 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))
- rs62589000
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5774
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7415
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12842
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