chr12:47845892:C>T Detail (hg38) (VDR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:48,239,675-48,239,675 View the variant detail on this assembly version. |
| hg38 | chr12:47,845,892-47,845,892 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001017535.1:c.1024+443G>A | |
| NM_000376.2:c.1024+443G>A | ||
| NM_001017536.1:c.1174+443G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.207 | |
| 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 | melanoma | In our hospital-based case-control study including 305 melanoma patients and 370... | BeFree | 22576141 | Detail |
| <0.001 | melanoma | In our hospital-based case-control study including 305 melanoma patients and 370... | BeFree | 22576141 | Detail |
| 0.004 | melanoma | In our hospital-based case-control study including 305 melanoma patients and 370... | BeFree | 22576141 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls si... | DisGeNET | Detail |
| In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls si... | DisGeNET | Detail |
| In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls si... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs757343 dbSNP
- Genome
- hg38
- Position
- chr12:47,845,892-47,845,892
- 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))
- rs757343
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2075
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3477
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser