chr12:57764205:A>G Detail (hg38) (CYP27B1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:58,157,988-58,157,988 View the variant detail on this assembly version. |
| hg38 | chr12:57,764,205-57,764,205 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000785.3:c.1137-29T>C | |
| Ensemble | ENST00000228606.9:c.1137-29T>C | |
| ENST00000546567.5:c.*142-29T>C |
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:0.639 |
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 |
| 0.022 | Diabetes Mellitus, Insulin-Dependent | DHCR7/NADSYN1 rs12785878 and CYP27B1 rs4646536 may play an important role in isl... | BeFree | 23979957 | Detail |
| <0.001 | Diabetes Mellitus, Insulin-Dependent | DHCR7/NADSYN1 rs12785878 and CYP27B1 rs4646536 may play an important role in isl... | BeFree | 23979957 | Detail |
| <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 |
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 |
| DHCR7/NADSYN1 rs12785878 and CYP27B1 rs4646536 may play an important role in islet autoimmunity, the... | DisGeNET | Detail |
| DHCR7/NADSYN1 rs12785878 and CYP27B1 rs4646536 may play an important role in islet autoimmunity, the... | 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 |
| German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs4646536 dbSNP
- Genome
- hg38
- Position
- chr12:57,764,205-57,764,205
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- 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))
- rs4646536
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.7699
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12904
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8638
- East Asian Allele Counts (ExAC)
- 5520
- East Asian Heterozygous Counts (ExAC)
- 1978
- East Asian Homozygous Counts (ExAC)
- 1771
- East Asian Allele Frequency (ExAC)
- 0.6390368140773327
- Chromosome Counts in All Race (ExAC)
- 121168
- Allele Counts in All Race (ExAC)
- 46228
- Heterozygous Counts in All Race (ExAC)
- 26760
- Homozygous Counts in All Race (ExAC)
- 9734
- Allele Frequency in All Race (ExAC)
- 0.3815198732338571
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