chr17:37738049:A>G Detail (hg38) (HNF1B)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:36,098,040-36,098,040 View the variant detail on this assembly version. |
| hg38 | chr17:37,738,049-37,738,049 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001304286.1:c.544+1391T>C | |
| NM_000458.3:c.544+1391T>C | ||
| NM_001165923.3:c.544+1391T>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Benign
|
criteria provided, single submitter | Maturity onset diabetes mellitus in young |
somatic
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.393 | Diabetes Mellitus, Non-Insulin-Dependent | Nominal interactions were observed for sleep duration and PPARG rs1801282, CRY2 ... | BeFree | 24280871 | Detail |
| 0.003 | Diabetes Mellitus, Non-Insulin-Dependent | Nominal interactions were observed for sleep duration and PPARG rs1801282, CRY2 ... | BeFree | 24280871 | Detail |
| 0.564 | Diabetes Mellitus, Non-Insulin-Dependent | Nominal interactions were observed for sleep duration and PPARG rs1801282, CRY2 ... | BeFree | 24280871 | Detail |
| <0.001 | Diabetes Mellitus, Non-Insulin-Dependent | COL8A1 rs792837 (P=2.9 × 10(-9)), KCNQ1 rs2237892 (P=1.8 × 10(-18)) and rs223789... | BeFree | 24145053 | Detail |
| 0.003 | Diabetes Mellitus, Non-Insulin-Dependent | COL8A1 rs792837 (P=2.9 × 10(-9)), KCNQ1 rs2237892 (P=1.8 × 10(-18)) and rs223789... | BeFree | 24145053 | Detail |
| 0.336 | Diabetes Mellitus, Non-Insulin-Dependent | COL8A1 rs792837 (P=2.9 × 10(-9)), KCNQ1 rs2237892 (P=1.8 × 10(-18)) and rs223789... | BeFree | 24145053 | Detail |
| 0.329 | Diabetes Mellitus, Non-Insulin-Dependent | COL8A1 rs792837 (P=2.9 × 10(-9)), KCNQ1 rs2237892 (P=1.8 × 10(-18)) and rs223789... | BeFree | 24145053 | Detail |
| 0.169 | Malignant neoplasm of prostate | We identified an endometrial cancer susceptibility locus close to HNF1B at 17q12... | BeFree | 21499250 | Detail |
| 0.564 | Diabetes Mellitus, Non-Insulin-Dependent | Where type 2 diabetes was the outcome, only one statistically significant intera... | BeFree | 19324937 | Detail |
| 0.145 | Prostatic Neoplasms | [Multiple loci identified in a genome-wide association study of prostate cancer.... | GAD | 18264096 | Detail |
| <0.001 | Malignant neoplasm of endometrium | We identified an endometrial cancer susceptibility locus close to HNF1B at 17q12... | BeFree | 21499250 | Detail |
| <0.001 | uterine corpus cancer | We identified an endometrial cancer susceptibility locus close to HNF1B at 17q12... | BeFree | 21499250 | Detail |
| 0.564 | Diabetes Mellitus, Non-Insulin-Dependent | Besides confirming seven established T2D loci (CDKAL1, CDKN2A/B, KCNQ1, CDC123, ... | GWASCAT | 22961080 | Detail |
| <0.001 | prostate carcinoma | The meta-analysis of all the studies revealed that the rs4430796 polymorphism wa... | BeFree | 25177939 | Detail |
| 0.121 | endometrial carcinoma | We identified an endometrial cancer susceptibility locus close to HNF1B at 17q12... | GWASCAT | 21499250 | Detail |
| 0.002 | Diabetes Mellitus, Non-Insulin-Dependent | Besides, the haplotype-based analysis demonstrated that AGT in block rs752010-rs... | BeFree | 23300827 | Detail |
| 0.145 | Prostatic Neoplasms | [Genome-wide association and replication studies identify four variants associat... | GAD | 19767754 | Detail |
| 0.564 | Diabetes Mellitus, Non-Insulin-Dependent | We identified an endometrial cancer susceptibility locus close to HNF1B at 17q12... | BeFree | 21499250 | Detail |
| 0.564 | Diabetes Mellitus, Non-Insulin-Dependent | [These results suggest that individuals with increased genetic susceptibility to... | GAD | 20203524 | Detail |
| 0.145 | Prostatic Neoplasms | [Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 ... | GAD | 17603485 | Detail |
| <0.001 | Malignant neoplasm of prostate | The meta-analysis of all the studies revealed that the rs4430796 polymorphism wa... | BeFree | 25177939 | Detail |
| 0.003 | Endometrial Neoplasms | [Genome-wide association study identifies a common variant associated with risk ... | GAD | 21499250 | Detail |
| 0.564 | Diabetes Mellitus, Non-Insulin-Dependent | Genome-wide trans-ancestry meta-analysis provides insight into the genetic archi... | GWASCAT | 24509480 | Detail |
| 0.004 | prostate carcinoma | We identified an endometrial cancer susceptibility locus close to HNF1B at 17q12... | BeFree | 21499250 | Detail |
| 0.169 | Malignant neoplasm of prostate | Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 p... | GWASCAT | 17603485 | Detail |
| 0.169 | Malignant neoplasm of prostate | Multiple loci identified in a genome-wide association study of prostate cancer. | GWASCAT | 18264096 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000458.4(HNF1B):c.544+1391T>C AND Maturity onset diabetes mellitus in young | ClinVar | Detail |
| Nominal interactions were observed for sleep duration and PPARG rs1801282, CRY2 rs7943320 and HNF1B ... | DisGeNET | Detail |
| Nominal interactions were observed for sleep duration and PPARG rs1801282, CRY2 rs7943320 and HNF1B ... | DisGeNET | Detail |
| Nominal interactions were observed for sleep duration and PPARG rs1801282, CRY2 rs7943320 and HNF1B ... | DisGeNET | Detail |
| COL8A1 rs792837 (P=2.9 × 10(-9)), KCNQ1 rs2237892 (P=1.8 × 10(-18)) and rs2237895 (P=0.002), ALX4 rs... | DisGeNET | Detail |
| COL8A1 rs792837 (P=2.9 × 10(-9)), KCNQ1 rs2237892 (P=1.8 × 10(-18)) and rs2237895 (P=0.002), ALX4 rs... | DisGeNET | Detail |
| COL8A1 rs792837 (P=2.9 × 10(-9)), KCNQ1 rs2237892 (P=1.8 × 10(-18)) and rs2237895 (P=0.002), ALX4 rs... | DisGeNET | Detail |
| COL8A1 rs792837 (P=2.9 × 10(-9)), KCNQ1 rs2237892 (P=1.8 × 10(-18)) and rs2237895 (P=0.002), ALX4 rs... | DisGeNET | Detail |
| We identified an endometrial cancer susceptibility locus close to HNF1B at 17q12 (rs4430796, P = 7.1... | DisGeNET | Detail |
| Where type 2 diabetes was the outcome, only one statistically significant interaction effect was obs... | DisGeNET | Detail |
| [Multiple loci identified in a genome-wide association study of prostate cancer.] | DisGeNET | Detail |
| We identified an endometrial cancer susceptibility locus close to HNF1B at 17q12 (rs4430796, P = 7.1... | DisGeNET | Detail |
| We identified an endometrial cancer susceptibility locus close to HNF1B at 17q12 (rs4430796, P = 7.1... | DisGeNET | Detail |
| Besides confirming seven established T2D loci (CDKAL1, CDKN2A/B, KCNQ1, CDC123, GLIS3, HNF1B, and DU... | DisGeNET | Detail |
| The meta-analysis of all the studies revealed that the rs4430796 polymorphism was significantly asso... | DisGeNET | Detail |
| We identified an endometrial cancer susceptibility locus close to HNF1B at 17q12 (rs4430796, P = 7.1... | DisGeNET | Detail |
| Besides, the haplotype-based analysis demonstrated that AGT in block rs752010-rs4430796-rs7501939 wa... | DisGeNET | Detail |
| [Genome-wide association and replication studies identify four variants associated with prostate can... | DisGeNET | Detail |
| We identified an endometrial cancer susceptibility locus close to HNF1B at 17q12 (rs4430796, P = 7.1... | DisGeNET | Detail |
| [These results suggest that individuals with increased genetic susceptibility to T2D have decreased ... | DisGeNET | Detail |
| [Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against typ... | DisGeNET | Detail |
| The meta-analysis of all the studies revealed that the rs4430796 polymorphism was significantly asso... | DisGeNET | Detail |
| [Genome-wide association study identifies a common variant associated with risk of endometrial cance... | DisGeNET | Detail |
| Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 di... | DisGeNET | Detail |
| We identified an endometrial cancer susceptibility locus close to HNF1B at 17q12 (rs4430796, P = 7.1... | DisGeNET | Detail |
| Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type... | DisGeNET | Detail |
| Multiple loci identified in a genome-wide association study of prostate cancer. | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs4430796 dbSNP
- Genome
- hg38
- Position
- chr17:37,738,049-37,738,049
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
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