chr5:56111376:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:56,111,376-56,191,979 |
| hg38 | chr5:56,815,549-56,896,152 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
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 |
|---|---|---|---|---|---|
| 0.002 | ulcerative colitis | NA | GAD | Detail | |
| 0.002 | Crohn Disease | NA | GAD | Detail | |
| <0.001 | Diabetes Mellitus, Insulin-Dependent | NA | BeFree | Detail | |
| <0.001 | gonadal dysgenesis | NA | BeFree | Detail | |
| <0.001 | Histiocytosis, Langerhans-Cell | MAP2K1 and MAP3K1 mutations in Langerhans cell histiocytosis. | BeFree | 25899310 | Detail |
| 0.003 | Lung Neoplasms | NA | LHGDN | Detail | |
| <0.001 | Lymphatic Metastasis | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of stomach | A MAP3k1 SNP predicts survival of gastric cancer in a Chinese population. | BeFree | 24759887 | Detail |
| 0.002 | Animal Mammary Neoplasms | NA | GAD | Detail | |
| <0.001 | melanoma | NA | BeFree | Detail | |
| <0.001 | Neoplasm Metastasis | NA | BeFree | 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 | ovarian carcinoma | NA | BeFree | Detail | |
| 0.003 | Pancreatic Neoplasm | NA | LHGDN | Detail | |
| 0.003 | Prostatic Neoplasms | NA | LHGDN | Detail | |
| <0.001 | Turner syndrome | NA | BeFree | Detail | |
| <0.001 | cataract | The 45 SNPs associated with cataract at p<1×10(-5) are in several interesting ge... | BeFree | 25352737 | Detail |
| 0.001 | pancreatic carcinoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of lung | NA | BeFree | Detail | |
| <0.001 | Lobular carcinoma in situ of breast | NA | BeFree | Detail | |
| <0.001 | Adenocarcinoma of pancreas | NA | BeFree | Detail | |
| <0.001 | Non-infiltrating lobular carcinoma | NA | BeFree | Detail | |
| <0.001 | Autosomal dominant retinitis pigmentosa | NA | BeFree | Detail | |
| 0.001 | Malignant neoplasm of pancreas | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of prostate | NA | BeFree | Detail | |
| <0.001 | 46, XY female | NA | BeFree | Detail | |
| <0.001 | endometrial carcinoma | NA | BeFree | Detail | |
| <0.001 | Bilateral cataracts (disorder) | The 45 SNPs associated with cataract at p<1×10(-5) are in several interesting ge... | BeFree | 25352737 | Detail |
| <0.001 | Leukemogenesis | NA | BeFree | Detail | |
| <0.001 | prostate carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | stomach carcinoma | A MAP3k1 SNP predicts survival of gastric cancer in a Chinese population. | BeFree | 24759887 | Detail |
| <0.001 | early pregnancy | NA | BeFree | Detail | |
| 0.003 | ovarian neoplasm | NA | LHGDN | Detail | |
| <0.001 | Malignant neoplasm of ovary | NA | BeFree | Detail | |
| 0.131 | Mammary Neoplasms | NA | CTD_human,GAD,LHGDN | Detail | |
| <0.001 | uterine corpus cancer | NA | BeFree | Detail | |
| <0.001 | liver carcinoma | NA | BeFree | Detail | |
| <0.001 | 46, XY Disorders of Sex Development | NA | BeFree | Detail | |
| 0.120 | Swyer Syndrome | NA | ORPHANET | 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 |
| 0.006 | breast carcinoma | 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 |
| 0.005 | rheumatoid arthritis | NA | GAD | Detail | |
| <0.001 | Malignant neoplasm of endometrium | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| MAP2K1 and MAP3K1 mutations in Langerhans cell histiocytosis. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A MAP3k1 SNP predicts survival of gastric cancer in a Chinese population. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | 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 |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The 45 SNPs associated with cataract at p<1×10(-5) are in several interesting genes, including ALDOB... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The 45 SNPs associated with cataract at p<1×10(-5) are in several interesting genes, including ALDOB... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A MAP3k1 SNP predicts survival of gastric cancer in a Chinese population. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | 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 |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs1752911 dbSNP
- Genome
- hg19
- Position
- chr5:56,111,376-56,191,979
- Variant Type
- snv
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