chr2:217905832:A>G Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:217,905,832-217,905,832 |
| hg38 | chr2:217,041,109-217,041,109 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:0.894 | |
| 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 |
|---|---|---|---|---|---|
| 0.230 | Malignant neoplasm of breast | Two single-nucleotide polymorphisms, rs13387042 (2q35) and rs1219648 (FGFR2 gene... | BeFree | 19789366 | Detail |
| 0.006 | breast carcinoma | We focus on TNRC9 rs3803662, FGFR2 rs1219648 and rs2981582, MAP3K1 rs889312, and... | BeFree | 21475998 | Detail |
| 0.166 | Malignant neoplasm of breast | We focus on TNRC9 rs3803662, FGFR2 rs1219648 and rs2981582, MAP3K1 rs889312, and... | BeFree | 21475998 | Detail |
| 0.031 | breast carcinoma | Two single-nucleotide polymorphisms, rs13387042 (2q35) and rs1219648 (FGFR2 gene... | BeFree | 19789366 | Detail |
| <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 |
| 0.360 | Malignant neoplasm of breast | In the present study, we evaluated the association between rs3803662 (TOX3, also... | BeFree | 24532140 | Detail |
| 0.080 | breast carcinoma | In the present study, we evaluated the association between rs3803662 (TOX3, also... | BeFree | 24532140 | Detail |
| 0.080 | breast carcinoma | Risk of estrogen receptor-positive and -negative breast cancer and single-nucleo... | BeFree | 19567422 | Detail |
| <0.001 | Malignant neoplasm of female breast | Comparing the ORs for male breast cancer with the published ORs for female breas... | BeFree | 21949660 | Detail |
| <0.001 | Carcinoma of male breast | Comparing the ORs for male breast cancer with the published ORs for female breas... | BeFree | 21949660 | Detail |
| <0.001 | female breast carcinoma | Comparing the ORs for male breast cancer with the published ORs for female breas... | BeFree | 21949660 | Detail |
| <0.001 | Malignant neoplasm of male breast | Comparing the ORs for male breast cancer with the published ORs for female breas... | BeFree | 21949660 | Detail |
| 0.240 | Malignant neoplasm of breast | Risk of estrogen receptor-positive and -negative breast cancer and single-nucleo... | BeFree | 19567422 | Detail |
| <0.001 | Malignant neoplasm of male breast | Comparing the ORs for male breast cancer with the published ORs for female breas... | BeFree | 21949660 | Detail |
| <0.001 | female breast carcinoma | Comparing the ORs for male breast cancer with the published ORs for female breas... | BeFree | 21949660 | Detail |
| <0.001 | Carcinoma of male breast | Comparing the ORs for male breast cancer with the published ORs for female breas... | BeFree | 21949660 | Detail |
| <0.001 | Malignant neoplasm of female breast | Comparing the ORs for male breast cancer with the published ORs for female breas... | BeFree | 21949660 | Detail |
| 0.121 | Malignant neoplasm of breast | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
| 0.002 | breast carcinoma | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
| 0.003 | breast carcinoma | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
| <0.001 | breast carcinoma | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
| 0.031 | breast carcinoma | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
| <0.001 | Malignant neoplasm of breast | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
| 0.230 | Malignant neoplasm of breast | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
| 0.138 | Malignant neoplasm of breast | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
| 0.122 | Malignant neoplasm of breast | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
| <0.001 | breast carcinoma | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
| 0.009 | breast carcinoma | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
| 0.132 | Malignant neoplasm of breast | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | 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 |
| 0.031 | breast carcinoma | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... | BeFree | 22532573 | Detail |
| 0.001 | Malignant neoplasm of breast | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... | BeFree | 22532573 | 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 |
| 0.002 | 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 |
| 0.162 | 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 | 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 |
| <0.001 | Malignant neoplasm of male breast | Five SNPs showed a statistically significant association with male breast cancer... | BeFree | 21949660 | Detail |
| 0.010 | breast carcinoma | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941... | BeFree | 23893088 | Detail |
| <0.001 | Breast Cancer, Familial | Seven of the 19 markers were significant in a multivariate predictive model of f... | BeFree | 23354978 | Detail |
| <0.001 | Breast Cancer, Familial | Seven of the 19 markers were significant in a multivariate predictive model of f... | BeFree | 23354978 | Detail |
| 0.122 | Breast Cancer, Familial | Seven of the 19 markers were significant in a multivariate predictive model of f... | BeFree | 23354978 | Detail |
| <0.001 | Contralateral breast cancer | The A allele of rs13387042 (2q35) was significantly associated with contralatera... | BeFree | 22087758 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Two single-nucleotide polymorphisms, rs13387042 (2q35) and rs1219648 (FGFR2 gene), were found to be ... | DisGeNET | Detail |
| We focus on TNRC9 rs3803662, FGFR2 rs1219648 and rs2981582, MAP3K1 rs889312, and 2q35 rs13387042, to... | DisGeNET | Detail |
| We focus on TNRC9 rs3803662, FGFR2 rs1219648 and rs2981582, MAP3K1 rs889312, and 2q35 rs13387042, to... | DisGeNET | Detail |
| Two single-nucleotide polymorphisms, rs13387042 (2q35) and rs1219648 (FGFR2 gene), were found to be ... | 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 |
| We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... | DisGeNET | Detail |
| In the present study, we evaluated the association between rs3803662 (TOX3, also known as TNRC9), rs... | DisGeNET | Detail |
| In the present study, we evaluated the association between rs3803662 (TOX3, also known as TNRC9), rs... | DisGeNET | Detail |
| Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q... | DisGeNET | Detail |
| Comparing the ORs for male breast cancer with the published ORs for female breast cancer, three SNPs... | DisGeNET | Detail |
| Comparing the ORs for male breast cancer with the published ORs for female breast cancer, three SNPs... | DisGeNET | Detail |
| Comparing the ORs for male breast cancer with the published ORs for female breast cancer, three SNPs... | DisGeNET | Detail |
| Comparing the ORs for male breast cancer with the published ORs for female breast cancer, three SNPs... | DisGeNET | Detail |
| Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q... | DisGeNET | Detail |
| Comparing the ORs for male breast cancer with the published ORs for female breast cancer, three SNPs... | DisGeNET | Detail |
| Comparing the ORs for male breast cancer with the published ORs for female breast cancer, three SNPs... | DisGeNET | Detail |
| Comparing the ORs for male breast cancer with the published ORs for female breast cancer, three SNPs... | DisGeNET | Detail |
| Comparing the ORs for male breast cancer with the published ORs for female breast cancer, three SNPs... | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | 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 |
| Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... | 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 |
| 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 |
| 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 |
| 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 |
| Five SNPs showed a statistically significant association with male breast cancer: rs13387042 (2q35) ... | DisGeNET | Detail |
| We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs298158... | DisGeNET | Detail |
| Seven of the 19 markers were significant in a multivariate predictive model of familial breast cance... | DisGeNET | Detail |
| Seven of the 19 markers were significant in a multivariate predictive model of familial breast cance... | DisGeNET | Detail |
| Seven of the 19 markers were significant in a multivariate predictive model of familial breast cance... | DisGeNET | Detail |
| The A allele of rs13387042 (2q35) was significantly associated with contralateral breast cancer in E... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs13387042 dbSNP
- Genome
- hg19
- Position
- chr2:217,905,832-217,905,832
- 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))
- rs13387042
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.8937
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 14979
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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