chr5:56736057:C>A Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:56,031,884-56,031,884 View the variant detail on this assembly version. |
| hg38 | chr5:56,736,057-56,736,057 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.417 | |
| 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 |
|---|---|---|---|---|---|
| 0.006 | breast carcinoma | We focus on TNRC9 rs3803662, FGFR2 rs1219648 and rs2981582, MAP3K1 rs889312, and... | BeFree | 21475998 | Detail |
| 0.080 | breast carcinoma | In this study, we evaluated the associations among FGFR2 SNPs rs2981582, rs24209... | BeFree | 23225170 | Detail |
| 0.003 | uterine corpus cancer | We also observed a nonsignificant inverse association with rs889312 (MAP3K1) var... | BeFree | 18785201 | Detail |
| 0.003 | Malignant neoplasm of endometrium | We also observed a nonsignificant inverse association with rs889312 (MAP3K1) var... | BeFree | 18785201 | Detail |
| 0.360 | Malignant neoplasm of breast | In this study, we evaluated the associations among FGFR2 SNPs rs2981582, rs24209... | BeFree | 23225170 | Detail |
| <0.001 | Malignant neoplasm of endometrium | We also observed a nonsignificant inverse association with rs889312 (MAP3K1) var... | BeFree | 18785201 | Detail |
| 0.166 | Malignant neoplasm of breast | We focus on TNRC9 rs3803662, FGFR2 rs1219648 and rs2981582, MAP3K1 rs889312, and... | BeFree | 21475998 | Detail |
| 0.125 | endometrial carcinoma | We also observed a nonsignificant inverse association with rs889312 (MAP3K1) var... | BeFree | 18785201 | Detail |
| <0.001 | uterine corpus cancer | We also observed a nonsignificant inverse association with rs889312 (MAP3K1) var... | BeFree | 18785201 | Detail |
| <0.001 | endometrial carcinoma | We also observed a nonsignificant inverse association with rs889312 (MAP3K1) var... | BeFree | 18785201 | Detail |
| 0.162 | Malignant neoplasm of breast | Six of the previously identified SNPs showed a statistically significant associa... | BeFree | 22867275 | Detail |
| 0.166 | Malignant neoplasm of breast | Six of the previously identified SNPs showed a statistically significant associa... | BeFree | 22867275 | Detail |
| 0.031 | breast carcinoma | Six of the previously identified SNPs showed a statistically significant associa... | BeFree | 22867275 | Detail |
| 0.010 | breast carcinoma | Six of the previously identified SNPs showed a statistically significant associa... | BeFree | 22867275 | Detail |
| 0.004 | breast carcinoma | Six of the previously identified SNPs showed a statistically significant associa... | BeFree | 22867275 | Detail |
| 0.006 | breast carcinoma | Six of the previously identified SNPs showed a statistically significant associa... | BeFree | 22867275 | Detail |
| 0.170 | Malignant neoplasm of breast | Six of the previously identified SNPs showed a statistically significant associa... | BeFree | 22867275 | Detail |
| 0.230 | Malignant neoplasm of breast | Six of the previously identified SNPs showed a statistically significant associa... | BeFree | 22867275 | Detail |
| <0.001 | breast carcinoma | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... | BeFree | 21791674 | Detail |
| 0.001 | pancreatic carcinoma | CASP8 rs1045485 [odds ratio (OR), 0.78; 95% confidence interval (95% CI), 0.65-0... | BeFree | 19843670 | Detail |
| 0.132 | Malignant neoplasm of breast | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... | BeFree | 21791674 | Detail |
| 0.001 | Malignant neoplasm of pancreas | CASP8 rs1045485 [odds ratio (OR), 0.78; 95% confidence interval (95% CI), 0.65-0... | BeFree | 19843670 | Detail |
| 0.001 | pancreatic carcinoma | CASP8 rs1045485 [odds ratio (OR), 0.78; 95% confidence interval (95% CI), 0.65-0... | BeFree | 19843670 | 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 |
| 0.001 | Malignant neoplasm of pancreas | CASP8 rs1045485 [odds ratio (OR), 0.78; 95% confidence interval (95% CI), 0.65-0... | BeFree | 19843670 | Detail |
| 0.123 | Malignant neoplasm of breast | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... | BeFree | 21791674 | Detail |
| 0.162 | Malignant neoplasm of breast | Consistent with their breast cancer associations, rs3817198 (LSP1) and rs1328161... | BeFree | 20145138 | 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 |
| 0.006 | breast carcinoma | Consistent with their breast cancer associations, rs3817198 (LSP1) and rs1328161... | BeFree | 20145138 | Detail |
| 0.009 | breast carcinoma | Consistent with their breast cancer associations, rs3817198 (LSP1) and rs1328161... | BeFree | 20145138 | Detail |
| <0.001 | Lobular carcinoma in situ of breast | Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579... | BeFree | 24743323 | Detail |
| <0.001 | Non-infiltrating lobular carcinoma | Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579... | BeFree | 24743323 | Detail |
| <0.001 | Lobular carcinoma in situ of breast | Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579... | BeFree | 24743323 | Detail |
| <0.001 | Non-infiltrating lobular carcinoma | Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579... | BeFree | 24743323 | Detail |
| <0.001 | Lobular carcinoma in situ of breast | Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579... | BeFree | 24743323 | Detail |
| <0.001 | Non-infiltrating lobular carcinoma | Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579... | BeFree | 24743323 | Detail |
| 0.010 | breast carcinoma | A recent genome-wide association study has shown that common alleles at single n... | BeFree | 18355772 | Detail |
| 0.170 | Malignant neoplasm of breast | A recent genome-wide association study has shown that common alleles at single n... | BeFree | 18355772 | Detail |
| 0.240 | Malignant neoplasm of breast | When stratified by estrogen receptor (ER) expression status, rs889312 was associ... | BeFree | 24595411 | Detail |
| 0.166 | Malignant neoplasm of breast | Association between mitogen-activated protein kinase kinase kinase 1 rs889312 po... | BeFree | 20809358 | Detail |
| 0.006 | breast carcinoma | Genome-wide association studies (GWAS) have demonstrated that the single nucleot... | BeFree | 24759887 | Detail |
| 0.006 | breast carcinoma | Association between mitogen-activated protein kinase kinase kinase 1 rs889312 po... | BeFree | 20809358 | Detail |
| 0.080 | breast carcinoma | In conclusion, this meta-analysis suggests that the MAP3K1 rs889312 C allele is ... | BeFree | 20809358 | Detail |
| 0.080 | breast carcinoma | There was no evidence for significant association between MAP3K1 rs889312 polymo... | BeFree | 20809358 | Detail |
| 0.360 | Malignant neoplasm of breast | In conclusion, this meta-analysis suggests that the MAP3K1 rs889312 C allele is ... | BeFree | 20809358 | Detail |
| 0.006 | breast carcinoma | Heterozygote carriers and minor allele homozygote carriers for SNP rs889312 in t... | BeFree | 17997823 | Detail |
| 0.166 | Malignant neoplasm of breast | Using publicly available CGEMS GWAS data to validate significant findings (N = 1... | BeFree | 23634849 | Detail |
| 0.006 | breast carcinoma | Using publicly available CGEMS GWAS data to validate significant findings (N = 1... | BeFree | 23634849 | Detail |
| 0.480 | Malignant neoplasm of breast | There was no evidence for significant association between MAP3K1 rs889312 polymo... | BeFree | 20809358 | Detail |
| 0.166 | Malignant neoplasm of breast | Genome-wide association studies (GWAS) have demonstrated that the single nucleot... | BeFree | 24759887 | Detail |
| 0.010 | breast carcinoma | In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... | BeFree | 22452962 | Detail |
| 0.006 | breast carcinoma | In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... | BeFree | 22452962 | Detail |
| 0.166 | Malignant neoplasm of breast | In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... | BeFree | 22452962 | Detail |
| 0.031 | breast carcinoma | In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... | BeFree | 22452962 | Detail |
| 0.230 | Malignant neoplasm of breast | In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... | BeFree | 22452962 | Detail |
| 0.170 | Malignant neoplasm of breast | In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... | BeFree | 22452962 | Detail |
| 0.240 | Malignant neoplasm of breast | In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... | BeFree | 22452962 | Detail |
| 0.080 | breast carcinoma | In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... | BeFree | 22452962 | 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 focus on TNRC9 rs3803662, FGFR2 rs1219648 and rs2981582, MAP3K1 rs889312, and 2q35 rs13387042, to... | DisGeNET | Detail |
| In this study, we evaluated the associations among FGFR2 SNPs rs2981582, rs2420946, and rs1219648; a... | DisGeNET | Detail |
| We also observed a nonsignificant inverse association with rs889312 (MAP3K1) variant carriers [OR = ... | DisGeNET | Detail |
| We also observed a nonsignificant inverse association with rs889312 (MAP3K1) variant carriers [OR = ... | DisGeNET | Detail |
| In this study, we evaluated the associations among FGFR2 SNPs rs2981582, rs2420946, and rs1219648; a... | DisGeNET | Detail |
| We also observed a nonsignificant inverse association with rs889312 (MAP3K1) variant carriers [OR = ... | DisGeNET | Detail |
| We focus on TNRC9 rs3803662, FGFR2 rs1219648 and rs2981582, MAP3K1 rs889312, and 2q35 rs13387042, to... | DisGeNET | Detail |
| We also observed a nonsignificant inverse association with rs889312 (MAP3K1) variant carriers [OR = ... | DisGeNET | Detail |
| We also observed a nonsignificant inverse association with rs889312 (MAP3K1) variant carriers [OR = ... | DisGeNET | Detail |
| We also observed a nonsignificant inverse association with rs889312 (MAP3K1) variant carriers [OR = ... | DisGeNET | Detail |
| Six of the previously identified SNPs showed a statistically significant association with breast can... | DisGeNET | Detail |
| Six of the previously identified SNPs showed a statistically significant association with breast can... | DisGeNET | Detail |
| Six of the previously identified SNPs showed a statistically significant association with breast can... | DisGeNET | Detail |
| Six of the previously identified SNPs showed a statistically significant association with breast can... | DisGeNET | Detail |
| Six of the previously identified SNPs showed a statistically significant association with breast can... | DisGeNET | Detail |
| Six of the previously identified SNPs showed a statistically significant association with breast can... | DisGeNET | Detail |
| Six of the previously identified SNPs showed a statistically significant association with breast can... | DisGeNET | Detail |
| Six of the previously identified SNPs showed a statistically significant association with breast can... | DisGeNET | Detail |
| We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... | DisGeNET | Detail |
| CASP8 rs1045485 [odds ratio (OR), 0.78; 95% confidence interval (95% CI), 0.65-0.9; P = 0.005] and M... | DisGeNET | Detail |
| We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... | DisGeNET | Detail |
| CASP8 rs1045485 [odds ratio (OR), 0.78; 95% confidence interval (95% CI), 0.65-0.9; P = 0.005] and M... | DisGeNET | Detail |
| CASP8 rs1045485 [odds ratio (OR), 0.78; 95% confidence interval (95% CI), 0.65-0.9; P = 0.005] and 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 |
| CASP8 rs1045485 [odds ratio (OR), 0.78; 95% confidence interval (95% CI), 0.65-0.9; P = 0.005] and M... | DisGeNET | Detail |
| We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... | 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 |
| 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 |
| Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579/10q26/FGFR2, P-het ... | DisGeNET | Detail |
| Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579/10q26/FGFR2, P-het ... | DisGeNET | Detail |
| Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579/10q26/FGFR2, P-het ... | DisGeNET | Detail |
| Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579/10q26/FGFR2, P-het ... | DisGeNET | Detail |
| Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579/10q26/FGFR2, P-het ... | DisGeNET | Detail |
| Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579/10q26/FGFR2, P-het ... | DisGeNET | Detail |
| A recent genome-wide association study has shown that common alleles at single nucleotide polymorphi... | DisGeNET | Detail |
| A recent genome-wide association study has shown that common alleles at single nucleotide polymorphi... | DisGeNET | Detail |
| When stratified by estrogen receptor (ER) expression status, rs889312 was associated with both ER-po... | DisGeNET | Detail |
| Association between mitogen-activated protein kinase kinase kinase 1 rs889312 polymorphism and breas... | DisGeNET | Detail |
| Genome-wide association studies (GWAS) have demonstrated that the single nucleotide polymorphism (SN... | DisGeNET | Detail |
| Association between mitogen-activated protein kinase kinase kinase 1 rs889312 polymorphism and breas... | DisGeNET | Detail |
| In conclusion, this meta-analysis suggests that the MAP3K1 rs889312 C allele is a low-penetrant risk... | DisGeNET | Detail |
| There was no evidence for significant association between MAP3K1 rs889312 polymorphism and breast ca... | DisGeNET | Detail |
| In conclusion, this meta-analysis suggests that the MAP3K1 rs889312 C allele is a low-penetrant risk... | DisGeNET | Detail |
| Heterozygote carriers and minor allele homozygote carriers for SNP rs889312 in the MAP3K1 gene were ... | DisGeNET | Detail |
| Using publicly available CGEMS GWAS data to validate significant findings (N = 1,145 cases, N = 1,14... | DisGeNET | Detail |
| Using publicly available CGEMS GWAS data to validate significant findings (N = 1,145 cases, N = 1,14... | DisGeNET | Detail |
| There was no evidence for significant association between MAP3K1 rs889312 polymorphism and breast ca... | DisGeNET | Detail |
| Genome-wide association studies (GWAS) have demonstrated that the single nucleotide polymorphism (SN... | DisGeNET | Detail |
| In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... | DisGeNET | Detail |
| In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... | DisGeNET | Detail |
| In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... | DisGeNET | Detail |
| In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... | DisGeNET | Detail |
| In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... | DisGeNET | Detail |
| In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... | DisGeNET | Detail |
| In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... | DisGeNET | Detail |
| In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... | 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 |
- Gene
- -
- dbSNP
- rs889312 dbSNP
- Genome
- hg38
- Position
- chr5:56,736,057-56,736,057
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- 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))
- rs889312
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4173
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 6994
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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