chr5:44662413:C>T Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:44,662,515-44,662,515 View the variant detail on this assembly version. |
| hg38 | chr5:44,662,413-44,662,413 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.575 | |
| 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 | breast carcinoma | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... | BeFree | 21791674 | Detail |
| 0.132 | Malignant neoplasm of breast | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... | BeFree | 21791674 | Detail |
| 0.001 | breast carcinoma | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... | BeFree | 21791674 | Detail |
| 0.001 | Malignant neoplasm of breast | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... | BeFree | 21791674 | Detail |
| 0.003 | breast carcinoma | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... | BeFree | 21791674 | Detail |
| 0.123 | Malignant neoplasm of breast | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... | BeFree | 21791674 | Detail |
| <0.001 | Mammographic Density | The effect of 6q25.1-rs3734805 on percent MD varied between parous and nulliparo... | BeFree | 25002657 | Detail |
| 0.080 | breast carcinoma | We confirmed the reported association of rs4415084 SNP with overall risk of brea... | BeFree | 20140701 | Detail |
| 0.240 | Malignant neoplasm of breast | We confirmed the reported association of rs4415084 SNP with overall risk of brea... | BeFree | 20140701 | Detail |
| <0.001 | Mammographic Density | Two other loci were associated with MD solely among pre-menopausal women, namely... | BeFree | 23021931 | Detail |
| 0.001 | breast carcinoma | In exploratory analyses, we found that the radiation-associated breast cancer ri... | BeFree | 20095854 | Detail |
| 0.004 | Malignant neoplasm of breast | In exploratory analyses, we found that the radiation-associated breast cancer ri... | BeFree | 20095854 | Detail |
| 0.031 | breast carcinoma | Five SNPs associated with breast cancer risk predominantly among ER-positive tum... | BeFree | 22965832 | Detail |
| 0.080 | breast carcinoma | Five SNPs associated with breast cancer risk predominantly among ER-positive tum... | BeFree | 22965832 | Detail |
| 0.240 | Malignant neoplasm of breast | Five SNPs associated with breast cancer risk predominantly among ER-positive tum... | BeFree | 22965832 | Detail |
| 0.230 | Malignant neoplasm of breast | Five SNPs associated with breast cancer risk predominantly among ER-positive tum... | BeFree | 22965832 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... | DisGeNET | Detail |
| We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... | DisGeNET | Detail |
| We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... | DisGeNET | Detail |
| We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... | DisGeNET | Detail |
| We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... | DisGeNET | Detail |
| We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... | DisGeNET | Detail |
| The effect of 6q25.1-rs3734805 on percent MD varied between parous and nulliparous women (Pinteracti... | DisGeNET | Detail |
| We confirmed the reported association of rs4415084 SNP with overall risk of breast cancer (P = 0.06)... | DisGeNET | Detail |
| We confirmed the reported association of rs4415084 SNP with overall risk of breast cancer (P = 0.06)... | DisGeNET | Detail |
| Two other loci were associated with MD solely among pre-menopausal women, namely, rs4973768 (SLC4A7)... | DisGeNET | Detail |
| In exploratory analyses, we found that the radiation-associated breast cancer risk varied significan... | DisGeNET | Detail |
| In exploratory analyses, we found that the radiation-associated breast cancer risk varied significan... | DisGeNET | Detail |
| Five SNPs associated with breast cancer risk predominantly among ER-positive tumors (rs2981582/FGFR2... | DisGeNET | Detail |
| Five SNPs associated with breast cancer risk predominantly among ER-positive tumors (rs2981582/FGFR2... | DisGeNET | Detail |
| Five SNPs associated with breast cancer risk predominantly among ER-positive tumors (rs2981582/FGFR2... | DisGeNET | Detail |
| Five SNPs associated with breast cancer risk predominantly among ER-positive tumors (rs2981582/FGFR2... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs4415084 dbSNP
- Genome
- hg38
- Position
- chr5:44,662,413-44,662,413
- 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))
- rs4415084
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5754
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 9644
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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