chr5:33958854:C>A Detail (hg38) (SLC45A2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:33,958,959-33,958,959 View the variant detail on this assembly version. |
| hg38 | chr5:33,958,854-33,958,854 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_016180.4:c.889-4350G>T | |
| NM_001012509.3:c.889-4350G>T | ||
| NM_001297417.2:c.563-4350G>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.131 | |
| 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 |
|---|---|---|---|---|---|
| 0.005 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder) | Three single nucleotide polymorphisms (rs28777, rs35391, and rs16891982) in the ... | BeFree | 19710684 | Detail |
| <0.001 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder) | Three single nucleotide polymorphisms (rs28777, rs35391, and rs16891982) in the ... | BeFree | 19710684 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Three single nucleotide polymorphisms (rs28777, rs35391, and rs16891982) in the MATP gene (SLC45A2) ... | DisGeNET | Detail |
| Three single nucleotide polymorphisms (rs28777, rs35391, and rs16891982) in the MATP gene (SLC45A2) ... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs28777 dbSNP
- Genome
- hg38
- Position
- chr5:33,958,854-33,958,854
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- 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))
- rs28777
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1305
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2188
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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