chr8:128355618:A>G Detail (hg19) (POU5F1B)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:128,355,618-128,355,618 |
| hg38 | chr8:127,343,372-127,343,372 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000645438.1:c.-560+3938A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.600 | |
| 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 | |
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 | Malignant neoplasm of breast | Frequent mutation of rs13281615 and its association with PVT1 expression and cel... | BeFree | 24780616 | Detail |
| 0.162 | Malignant neoplasm of breast | Consistent with their breast cancer associations, rs3817198 (LSP1) and rs1328161... | BeFree | 20145138 | Detail |
| 0.001 | breast carcinoma | Variants of rs7696175/TLR1, TLR6, rs13281615/8q24, and rs16886165/MAP3K1 were al... | BeFree | 22965832 | Detail |
| 0.004 | breast carcinoma | Consistent with their breast cancer associations, rs3817198 (LSP1) and rs1328161... | BeFree | 20145138 | Detail |
| 0.049 | Malignant neoplasm of breast | Consistent with their breast cancer associations, rs3817198 (LSP1) and rs1328161... | BeFree | 20145138 | Detail |
| 0.166 | Malignant neoplasm of breast | Consistent with their breast cancer associations, rs3817198 (LSP1) and rs1328161... | BeFree | 20145138 | Detail |
| 0.003 | Malignant neoplasm of breast | Variants of rs7696175/TLR1, TLR6, rs13281615/8q24, and rs16886165/MAP3K1 were al... | BeFree | 22965832 | Detail |
| 0.080 | breast carcinoma | There was no evidence for significant association between 8q24 rs13281615A > ... | BeFree | 23292077 | Detail |
| 0.006 | breast carcinoma | Consistent with their breast cancer associations, rs3817198 (LSP1) and rs1328161... | BeFree | 20145138 | Detail |
| 0.006 | breast carcinoma | Variants of rs7696175/TLR1, TLR6, rs13281615/8q24, and rs16886165/MAP3K1 were al... | BeFree | 22965832 | Detail |
| 0.480 | Malignant neoplasm of breast | There was no evidence for significant association between 8q24 rs13281615A > ... | BeFree | 23292077 | Detail |
| 0.009 | breast carcinoma | Consistent with their breast cancer associations, rs3817198 (LSP1) and rs1328161... | BeFree | 20145138 | Detail |
| 0.166 | Malignant neoplasm of breast | Variants of rs7696175/TLR1, TLR6, rs13281615/8q24, and rs16886165/MAP3K1 were al... | BeFree | 22965832 | Detail |
| <0.001 | breast carcinoma | Frequent mutation of rs13281615 and its association with PVT1 expression and cel... | BeFree | 24780616 | Detail |
| 0.002 | Carcinogenesis | These results suggest that the GG genotype of SNP rs13281615 plays a role in bre... | BeFree | 24780616 | Detail |
| 0.080 | breast carcinoma | There was no evidence for significant association between 8q24 rs13281615A > ... | BeFree | 23292077 | Detail |
| 0.360 | Malignant neoplasm of breast | In the present study, we evaluated the association between rs3803662 (TOX3, also... | BeFree | 24532140 | Detail |
| 0.240 | Malignant neoplasm of breast | In addition to confirming the association of the GG genotype of rs13281615 with ... | BeFree | 24780616 | Detail |
| 0.080 | breast carcinoma | In the present study, we evaluated the association between rs3803662 (TOX3, also... | BeFree | 24532140 | Detail |
| 0.360 | Malignant neoplasm of breast | There was no evidence for significant association between 8q24 rs13281615A > ... | BeFree | 23292077 | Detail |
| 0.080 | breast carcinoma | In addition to confirming the association of the GG genotype of rs13281615 with ... | BeFree | 24780616 | Detail |
| 0.006 | breast carcinoma | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... | BeFree | 22532573 | 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 |
| 0.162 | 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 |
| 0.004 | breast carcinoma | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... | BeFree | 22532573 | Detail |
| 0.131 | Malignant neoplasm of breast | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... | BeFree | 22532573 | 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 |
| 0.090 | Malignant neoplasm of breast | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... | BeFree | 22532573 | 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 |
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 |
| Frequent mutation of rs13281615 and its association with PVT1 expression and cell proliferation in b... | DisGeNET | Detail |
| Consistent with their breast cancer associations, rs3817198 (LSP1) and rs13281615 (8q) were associat... | DisGeNET | Detail |
| Variants of rs7696175/TLR1, TLR6, rs13281615/8q24, and rs16886165/MAP3K1 were also associated with i... | DisGeNET | Detail |
| Consistent with their breast cancer associations, rs3817198 (LSP1) and rs13281615 (8q) were associat... | DisGeNET | Detail |
| Consistent with their breast cancer associations, rs3817198 (LSP1) and rs13281615 (8q) were associat... | DisGeNET | Detail |
| Consistent with their breast cancer associations, rs3817198 (LSP1) and rs13281615 (8q) were associat... | DisGeNET | Detail |
| Variants of rs7696175/TLR1, TLR6, rs13281615/8q24, and rs16886165/MAP3K1 were also associated with i... | DisGeNET | Detail |
| There was no evidence for significant association between 8q24 rs13281615A > G polymorphism and b... | DisGeNET | Detail |
| Consistent with their breast cancer associations, rs3817198 (LSP1) and rs13281615 (8q) were associat... | DisGeNET | Detail |
| Variants of rs7696175/TLR1, TLR6, rs13281615/8q24, and rs16886165/MAP3K1 were also associated with i... | DisGeNET | Detail |
| There was no evidence for significant association between 8q24 rs13281615A > G polymorphism and b... | DisGeNET | Detail |
| Consistent with their breast cancer associations, rs3817198 (LSP1) and rs13281615 (8q) were associat... | DisGeNET | Detail |
| Variants of rs7696175/TLR1, TLR6, rs13281615/8q24, and rs16886165/MAP3K1 were also associated with i... | DisGeNET | Detail |
| Frequent mutation of rs13281615 and its association with PVT1 expression and cell proliferation in b... | DisGeNET | Detail |
| These results suggest that the GG genotype of SNP rs13281615 plays a role in breast cancer likely by... | DisGeNET | Detail |
| There was no evidence for significant association between 8q24 rs13281615A > G polymorphism and b... | DisGeNET | Detail |
| In the present study, we evaluated the association between rs3803662 (TOX3, also known as TNRC9), rs... | DisGeNET | Detail |
| In addition to confirming the association of the GG genotype of rs13281615 with breast cancer risk, ... | DisGeNET | Detail |
| In the present study, we evaluated the association between rs3803662 (TOX3, also known as TNRC9), rs... | DisGeNET | Detail |
| There was no evidence for significant association between 8q24 rs13281615A > G polymorphism and b... | DisGeNET | Detail |
| In addition to confirming the association of the GG genotype of rs13281615 with breast cancer risk, ... | 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 |
| 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 |
| 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 |
| 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 |
| 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 |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs13281615 dbSNP
- Genome
- hg19
- Position
- chr8:128,355,618-128,355,618
- 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))
- rs13281615
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5998
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 10052
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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