chr7:45961075:G>T Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:45,961,075-45,961,075 |
| hg38 | chr7:45,921,476-45,921,476 View the variant detail on this assembly version. |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.765 | |
| 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 | colon carcinoma | We evaluated the association of four insulin-related pathway gene polymorphisms ... | BeFree | 22565227 | Detail |
| <0.001 | Malignant tumor of colon | We evaluated the association of four insulin-related pathway gene polymorphisms ... | BeFree | 22565227 | Detail |
| <0.001 | Erectile dysfunction | The influence of promoter -202 A/C polymorphism (rs2854744) of the IGFBP-3 gene ... | BeFree | 23174226 | Detail |
| 0.001 | Carcinoma of bladder | The association between bladder cancer and a single nucleotide polymorphism (rs2... | BeFree | 21347663 | Detail |
| 0.001 | Malignant neoplasm of urinary bladder | The association between bladder cancer and a single nucleotide polymorphism (rs2... | BeFree | 21347663 | Detail |
| 0.003 | Malignant neoplasm of urinary bladder | Urinary bladder cancer risk in relation to a single nucleotide polymorphism (rs2... | BeFree | 21892705 | Detail |
| 0.080 | Erectile dysfunction | The influence of promoter -202 A/C polymorphism (rs2854744) of the IGFBP-3 gene ... | BeFree | 23174226 | Detail |
| 0.003 | Malignant neoplasm of urinary bladder | The association between bladder cancer and a single nucleotide polymorphism (rs2... | BeFree | 21347663 | Detail |
| 0.001 | Carcinoma of bladder | Urinary bladder cancer risk in relation to a single nucleotide polymorphism (rs2... | BeFree | 21892705 | Detail |
| 0.001 | Carcinoma of bladder | The association between bladder cancer and a single nucleotide polymorphism (rs2... | BeFree | 21347663 | Detail |
| 0.001 | Malignant neoplasm of ovary | When evaluated individually, three SNPs in the IGFBPs (rs10228265, rs4988515 and... | BeFree | 19858071 | Detail |
| 0.001 | ovarian carcinoma | When evaluated individually, three SNPs in the IGFBPs (rs10228265, rs4988515 and... | BeFree | 19858071 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We evaluated the association of four insulin-related pathway gene polymorphisms in insulin-like grow... | DisGeNET | Detail |
| We evaluated the association of four insulin-related pathway gene polymorphisms in insulin-like grow... | DisGeNET | Detail |
| The influence of promoter -202 A/C polymorphism (rs2854744) of the IGFBP-3 gene on erectile dysfunct... | DisGeNET | Detail |
| The association between bladder cancer and a single nucleotide polymorphism (rs2854744) in the insul... | DisGeNET | Detail |
| The association between bladder cancer and a single nucleotide polymorphism (rs2854744) in the insul... | DisGeNET | Detail |
| Urinary bladder cancer risk in relation to a single nucleotide polymorphism (rs2854744) in the insul... | DisGeNET | Detail |
| The influence of promoter -202 A/C polymorphism (rs2854744) of the IGFBP-3 gene on erectile dysfunct... | DisGeNET | Detail |
| The association between bladder cancer and a single nucleotide polymorphism (rs2854744) in the insul... | DisGeNET | Detail |
| Urinary bladder cancer risk in relation to a single nucleotide polymorphism (rs2854744) in the insul... | DisGeNET | Detail |
| The association between bladder cancer and a single nucleotide polymorphism (rs2854744) in the insul... | DisGeNET | Detail |
| When evaluated individually, three SNPs in the IGFBPs (rs10228265, rs4988515 and rs2270628) were ass... | DisGeNET | Detail |
| When evaluated individually, three SNPs in the IGFBPs (rs10228265, rs4988515 and rs2270628) were ass... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs2854744 dbSNP
- Genome
- hg19
- Position
- chr7:45,961,075-45,961,075
- 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))
- rs2854744
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.7652
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12819
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16752
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