chr5:44706498:A>G Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:44,706,498-44,706,498 |
| hg38 | chr5:44,706,396-44,706,396 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:0.483 | |
| 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 |
| 0.017 | breast carcinoma | Ten SNPs (rs2075555 in COL1A1, rs12652447 in FBXL17, rs10941679 in 5p12/MRPS30, ... | BeFree | 24528085 | Detail |
| 0.026 | Malignant neoplasm of breast | Ten SNPs (rs2075555 in COL1A1, rs12652447 in FBXL17, rs10941679 in 5p12/MRPS30, ... | BeFree | 24528085 | 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 |
| 0.006 | breast carcinoma | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... | BeFree | 22532573 | Detail |
| 0.131 | Malignant neoplasm of breast | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941... | BeFree | 23893088 | Detail |
| 0.031 | breast carcinoma | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941... | BeFree | 23893088 | Detail |
| 0.009 | breast carcinoma | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... | BeFree | 22532573 | Detail |
| 0.004 | Malignant neoplasm of breast | The mitochondrial ribosomal protein S30 gene (MRPS30) rs10941679 was associated ... | BeFree | 23221726 | Detail |
| 0.031 | breast carcinoma | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... | BeFree | 22532573 | Detail |
| 0.001 | breast carcinoma | The mitochondrial ribosomal protein S30 gene (MRPS30) rs10941679 was associated ... | BeFree | 23221726 | Detail |
| 0.001 | Malignant neoplasm of breast | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... | BeFree | 22532573 | Detail |
| 0.001 | breast carcinoma | In exploratory analyses, we found that the radiation-associated breast cancer ri... | BeFree | 20095854 | Detail |
| <0.001 | breast carcinoma | The polymorphism rs10941679 near HCN1/MRPS30 was also associated with percent de... | BeFree | 19232126 | Detail |
| <0.001 | Carcinoma of male breast | Five SNPs showed a statistically significant association with male breast cancer... | BeFree | 21949660 | Detail |
| 0.162 | Malignant neoplasm of breast | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... | BeFree | 22532573 | Detail |
| 0.080 | breast carcinoma | SNP 5p12-rs10941679 was statistically significantly associated with greater risk... | BeFree | 21791674 | Detail |
| 0.002 | breast carcinoma | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... | BeFree | 22532573 | Detail |
| 0.001 | breast carcinoma | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... | BeFree | 22532573 | Detail |
| 0.004 | Malignant neoplasm of breast | The polymorphism rs10941679 near HCN1/MRPS30 was also associated with percent de... | BeFree | 19232126 | Detail |
| 0.001 | breast carcinoma | The polymorphism rs10941679 near HCN1/MRPS30 was also associated with percent de... | BeFree | 19232126 | Detail |
| 0.162 | Malignant neoplasm of breast | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941... | BeFree | 23893088 | Detail |
| 0.002 | breast carcinoma | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941... | BeFree | 23893088 | Detail |
| 0.004 | Malignant neoplasm of breast | In exploratory analyses, we found that the radiation-associated breast cancer ri... | BeFree | 20095854 | Detail |
| 0.004 | breast carcinoma | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... | BeFree | 22532573 | Detail |
| 0.170 | Malignant neoplasm of breast | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941... | BeFree | 23893088 | Detail |
| 0.131 | Malignant neoplasm of breast | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... | BeFree | 22532573 | Detail |
| 0.230 | Malignant neoplasm of breast | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941... | BeFree | 23893088 | Detail |
| <0.001 | breast carcinoma | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941... | BeFree | 23893088 | Detail |
| 0.049 | Malignant neoplasm of breast | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... | BeFree | 22532573 | Detail |
| 0.166 | Malignant neoplasm of breast | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... | BeFree | 22532573 | Detail |
| 0.128 | Malignant neoplasm of breast | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941... | BeFree | 23893088 | Detail |
| 0.090 | Malignant neoplasm of breast | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... | BeFree | 22532573 | Detail |
| 0.004 | breast carcinoma | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941... | BeFree | 23893088 | Detail |
| 0.019 | breast carcinoma | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... | BeFree | 22532573 | Detail |
| 0.230 | Malignant neoplasm of breast | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... | BeFree | 22532573 | Detail |
| 0.132 | Malignant neoplasm of breast | SNP 5p12-rs10941679 was statistically significantly associated with greater risk... | BeFree | 21791674 | Detail |
| <0.001 | Malignant neoplasm of male breast | Five SNPs showed a statistically significant association with male breast cancer... | BeFree | 21949660 | Detail |
| 0.005 | Malignant neoplasm of breast | The polymorphism rs10941679 near HCN1/MRPS30 was also associated with percent de... | BeFree | 19232126 | Detail |
| 0.010 | breast carcinoma | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941... | BeFree | 23893088 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... | DisGeNET | Detail |
| Ten SNPs (rs2075555 in COL1A1, rs12652447 in FBXL17, rs10941679 in 5p12/MRPS30, rs11878583 in ZNF577... | DisGeNET | Detail |
| Ten SNPs (rs2075555 in COL1A1, rs12652447 in FBXL17, rs10941679 in 5p12/MRPS30, rs11878583 in ZNF577... | 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 |
| Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... | DisGeNET | Detail |
| We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs298158... | DisGeNET | Detail |
| We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs298158... | DisGeNET | Detail |
| Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... | DisGeNET | Detail |
| The mitochondrial ribosomal protein S30 gene (MRPS30) rs10941679 was associated with breast cancer r... | DisGeNET | Detail |
| Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... | DisGeNET | Detail |
| The mitochondrial ribosomal protein S30 gene (MRPS30) rs10941679 was associated with breast cancer r... | DisGeNET | Detail |
| Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... | DisGeNET | Detail |
| In exploratory analyses, we found that the radiation-associated breast cancer risk varied significan... | DisGeNET | Detail |
| The polymorphism rs10941679 near HCN1/MRPS30 was also associated with percent dense area; women who ... | DisGeNET | Detail |
| Five SNPs showed a statistically significant association with male breast cancer: rs13387042 (2q35) ... | DisGeNET | Detail |
| Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... | DisGeNET | Detail |
| SNP 5p12-rs10941679 was statistically significantly associated with greater risk of progesterone rec... | DisGeNET | Detail |
| Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... | DisGeNET | Detail |
| Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... | DisGeNET | Detail |
| The polymorphism rs10941679 near HCN1/MRPS30 was also associated with percent dense area; women who ... | DisGeNET | Detail |
| The polymorphism rs10941679 near HCN1/MRPS30 was also associated with percent dense area; women who ... | DisGeNET | Detail |
| We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs298158... | DisGeNET | Detail |
| We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs298158... | DisGeNET | Detail |
| In exploratory analyses, we found that the radiation-associated breast cancer risk varied significan... | DisGeNET | Detail |
| Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... | DisGeNET | Detail |
| We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs298158... | DisGeNET | Detail |
| Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... | DisGeNET | Detail |
| We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs298158... | DisGeNET | Detail |
| We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs298158... | DisGeNET | Detail |
| Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... | DisGeNET | Detail |
| Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... | DisGeNET | Detail |
| We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs298158... | DisGeNET | Detail |
| Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... | DisGeNET | Detail |
| We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs298158... | DisGeNET | Detail |
| Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... | DisGeNET | Detail |
| Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... | DisGeNET | Detail |
| SNP 5p12-rs10941679 was statistically significantly associated with greater risk of progesterone rec... | DisGeNET | Detail |
| Five SNPs showed a statistically significant association with male breast cancer: rs13387042 (2q35) ... | DisGeNET | Detail |
| The polymorphism rs10941679 near HCN1/MRPS30 was also associated with percent dense area; women who ... | DisGeNET | Detail |
| We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs298158... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs10941679 dbSNP
- Genome
- hg19
- Position
- chr5:44,706,498-44,706,498
- 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))
- rs10941679
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4828
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 8092
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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