chr3:27414214:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:27,414,214-27,525,887 |
| hg38 | chr3:27,372,723-27,484,396 |
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 |
|---|---|---|---|---|---|
| <0.001 | Coughing | NA | BeFree | Detail | |
| 0.003 | cystic fibrosis | NA | LHGDN | Detail | |
| <0.001 | gastroesophageal reflux disease | NA | BeFree | Detail | |
| <0.001 | Neoplasm Metastasis | NA | BeFree | Detail | |
| <0.001 | Sensory neuropathy | NA | BeFree | Detail | |
| 0.002 | Substance-Related Disorders | NA | GAD | Detail | |
| <0.001 | Carcinogenesis | We propose that upregulated NBCn1 during human breast carcinogenesis contributes... | BeFree | 24788003 | Detail |
| 0.002 | breast carcinoma | We propose that upregulated NBCn1 during human breast carcinogenesis contributes... | BeFree | 24788003 | Detail |
| <0.001 | Mammographic Density | NA | BeFree | Detail | |
| 0.080 | Usher syndrome, type 2C | NA | MGD | Detail | |
| 0.002 | 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 |
| 0.131 | Malignant neoplasm of breast | We propose that upregulated NBCn1 during human breast carcinogenesis contributes... | BeFree,GAD,GWASCAT | 24788003 | Detail |
| <0.001 | Non-small cell lung carcinoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We propose that upregulated NBCn1 during human breast carcinogenesis contributes to the characterist... | DisGeNET | Detail |
| We propose that upregulated NBCn1 during human breast carcinogenesis contributes to the characterist... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | 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 propose that upregulated NBCn1 during human breast carcinogenesis contributes to the characterist... | 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
- rs1982073 dbSNP
- Genome
- hg19
- Position
- chr3:27,414,214-27,525,887
- Variant Type
- snv
Genome browser