chr11:14893332:A>G Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:14,914,878-14,914,878 View the variant detail on this assembly version. |
| hg38 | chr11:14,893,332-14,893,332 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.649 | |
| 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 | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | pancreatic carcinoma | For example, pancreas cancer risk was inversely associated with CYP2R1 rs1074165... | BeFree | 23826131 | Detail |
| <0.001 | Papillary thyroid carcinoma | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicul... | BeFree | 22690899 | Detail |
| <0.001 | Hepatitis C, Chronic | The well-known associations between CYP2R1 (rs1993116, rs10741657), GC (rs228267... | BeFree | 23734184 | 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 | liver carcinoma | The well-known associations between CYP2R1 (rs1993116, rs10741657), GC (rs228267... | BeFree | 23734184 | 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 |
| <0.001 | Malignant neoplasm of pancreas | For example, pancreas cancer risk was inversely associated with CYP2R1 rs1074165... | BeFree | 23826131 | Detail |
| 0.020 | Papillary thyroid carcinoma | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicul... | BeFree | 22690899 | Detail |
| <0.001 | colon carcinoma | In the present study, we investigated the association of three functional gene v... | BeFree | 23793229 | Detail |
| 0.126 | Vitamin D Deficiency | Common genetic determinants of vitamin D insufficiency: a genome-wide associatio... | GWASCAT | 20541252 | Detail |
| <0.001 | Papillary thyroid carcinoma | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicul... | BeFree | 22690899 | Detail |
| <0.001 | pancreatic carcinoma | For example, pancreas cancer risk was inversely associated with CYP2R1 rs1074165... | BeFree | 23826131 | Detail |
| <0.001 | Coronary Arteriosclerosis | Triangular relationship between single nucleotide polymorphisms in the CYP2R1 ge... | BeFree | 25003556 | Detail |
| <0.001 | Coronary heart disease | Triangular relationship between single nucleotide polymorphisms in the CYP2R1 ge... | BeFree | 25003556 | Detail |
| 0.004 | Follicular thyroid carcinoma | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicul... | BeFree | 22690899 | Detail |
| <0.001 | Malignant neoplasm of pancreas | For example, pancreas cancer risk was inversely associated with CYP2R1 rs1074165... | BeFree | 23826131 | Detail |
| <0.001 | Follicular thyroid carcinoma | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicul... | BeFree | 22690899 | Detail |
| <0.001 | Hepatitis C, Chronic | The well-known associations between CYP2R1 (rs1993116, rs10741657), GC (rs228267... | BeFree | 23734184 | Detail |
| <0.001 | Malignant tumor of colon | In the present study, we investigated the association of three functional gene v... | BeFree | 23793229 | Detail |
| <0.001 | colon carcinoma | In the present study, we investigated the association of three functional gene v... | BeFree | 23793229 | 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 | coronary artery disease | Triangular relationship between single nucleotide polymorphisms in the CYP2R1 ge... | BeFree | 25003556 | Detail |
| <0.001 | liver carcinoma | The well-known associations between CYP2R1 (rs1993116, rs10741657), GC (rs228267... | BeFree | 23734184 | Detail |
| <0.001 | Malignant tumor of colon | In the present study, we investigated the association of three functional gene v... | BeFree | 23793229 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| For example, pancreas cancer risk was inversely associated with CYP2R1 rs10741657 (AA versus GG, OR ... | DisGeNET | Detail |
| German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma... | DisGeNET | Detail |
| The well-known associations between CYP2R1 (rs1993116, rs10741657), GC (rs2282679), and DHCR7 (rs794... | 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 |
| The well-known associations between CYP2R1 (rs1993116, rs10741657), GC (rs2282679), and DHCR7 (rs794... | 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 |
| For example, pancreas cancer risk was inversely associated with CYP2R1 rs10741657 (AA versus GG, OR ... | DisGeNET | Detail |
| German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma... | DisGeNET | Detail |
| In the present study, we investigated the association of three functional gene variants in GC (rs228... | DisGeNET | Detail |
| Common genetic determinants of vitamin D insufficiency: a genome-wide association study. | DisGeNET | Detail |
| German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma... | DisGeNET | Detail |
| For example, pancreas cancer risk was inversely associated with CYP2R1 rs10741657 (AA versus GG, OR ... | DisGeNET | Detail |
| Triangular relationship between single nucleotide polymorphisms in the CYP2R1 gene (rs10741657 and r... | DisGeNET | Detail |
| Triangular relationship between single nucleotide polymorphisms in the CYP2R1 gene (rs10741657 and r... | DisGeNET | Detail |
| German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma... | DisGeNET | Detail |
| For example, pancreas cancer risk was inversely associated with CYP2R1 rs10741657 (AA versus GG, OR ... | DisGeNET | Detail |
| German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma... | DisGeNET | Detail |
| The well-known associations between CYP2R1 (rs1993116, rs10741657), GC (rs2282679), and DHCR7 (rs794... | DisGeNET | Detail |
| In the present study, we investigated the association of three functional gene variants in GC (rs228... | DisGeNET | Detail |
| In the present study, we investigated the association of three functional gene variants in GC (rs228... | 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 |
| Triangular relationship between single nucleotide polymorphisms in the CYP2R1 gene (rs10741657 and r... | DisGeNET | Detail |
| The well-known associations between CYP2R1 (rs1993116, rs10741657), GC (rs2282679), and DHCR7 (rs794... | DisGeNET | Detail |
| In the present study, we investigated the association of three functional gene variants in GC (rs228... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs10741657 dbSNP
- Genome
- hg38
- Position
- chr11:14,893,332-14,893,332
- 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))
- rs10741657
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6492
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 10879
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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