chr12:57768302:G>T Detail (hg38) (CYP27B1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:58,162,085-58,162,085 View the variant detail on this assembly version. |
| hg38 | chr12:57,768,302-57,768,302 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.770 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance | Likely risk allele |
| Review star |  |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
| Likely risk allele | 2020-02-27 | no assertion criteria provided | Vitamin D-dependent rickets, type 1A |
biparental
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Papillary thyroid carcinoma | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicul... | BeFree | 22690899 | Detail |
| <0.001 | Papillary thyroid carcinoma | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicul... | BeFree | 22690899 | Detail |
| <0.001 | differentiated thyroid gland carcinoma | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicul... | BeFree | 22690899 | Detail |
| 0.001 | differentiated thyroid gland carcinoma | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicul... | BeFree | 22690899 | Detail |
| <0.001 | Follicular thyroid carcinoma | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicul... | BeFree | 22690899 | Detail |
| 0.020 | Papillary thyroid carcinoma | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicul... | BeFree | 22690899 | Detail |
| <0.001 | Papillary thyroid carcinoma | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicul... | BeFree | 22690899 | Detail |
| 0.004 | Follicular thyroid carcinoma | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicul... | BeFree | 22690899 | Detail |
| <0.001 | Follicular thyroid carcinoma | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicul... | BeFree | 22690899 | Detail |
| <0.001 | Follicular thyroid carcinoma | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicul... | BeFree | 22690899 | Detail |
| <0.001 | differentiated thyroid gland carcinoma | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicul... | BeFree | 22690899 | Detail |
| 0.001 | Hepatitis C, Chronic | Associations between a functionally relevant polymorphism in the gene encoding t... | BeFree | 22808108 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NC_000012.12:g.57768302G>T AND Vitamin D-dependent rickets, type 1A | ClinVar | Detail |
| German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma... | DisGeNET | Detail |
| German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma... | DisGeNET | Detail |
| German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma... | DisGeNET | Detail |
| German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma... | DisGeNET | Detail |
| German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma... | DisGeNET | Detail |
| German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma... | DisGeNET | Detail |
| German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma... | DisGeNET | Detail |
| German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma... | DisGeNET | Detail |
| German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma... | DisGeNET | Detail |
| German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma... | DisGeNET | Detail |
| German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma... | DisGeNET | Detail |
| Associations between a functionally relevant polymorphism in the gene encoding the vitamin D 1α-hydr... | DisGeNET | Detail |
- Gene
- -
- Genome
- hg38
- Position
- chr12:57,768,302-57,768,302
- Variant Type
- snv
- Reference Allele
- G
- 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))
- rs10877012
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.7696
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12899
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser