chr9:133273813:C>T Detail (hg38) (ABO)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:136,149,229-136,149,229 View the variant detail on this assembly version. |
| hg38 | chr9:133,273,813-133,273,813 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_020469.2:c.28+1349G>A | |
| Ensemble | ENST00000538324.2:c.28+1349G>A | |
| ENST00000611156.4:c.28+1349G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.129 | Pancreatic Neoplasm | NA | GAD | Detail | |
| 0.243 | duodenal ulcer | [rs505922 at ABO was also associated with duodenal ulcer in a recessive model (O... | GAD | 22387998 | Detail |
| 0.128 | Malignant neoplasm of pancreas | [Genome-wide association study identifies variants in the ABO locus associated w... | GAD | 19648918 | Detail |
| 0.005 | pancreatic carcinoma | SNP rs505922, located within the first intron of the ABO gene, has been associat... | BeFree | 22642827 | Detail |
| 0.123 | Graves Disease | In this study, we carried out a three-stage study in 9529 patients with GD and 9... | GWASCAT | 23612905 | Detail |
| 0.128 | Malignant neoplasm of pancreas | Recently, one single nucleotide polymorphism (SNP) rs505922 in ABO gene has been... | BeFree | 25656610 | Detail |
| 0.129 | Venous thromboembolism | Common susceptibility alleles are unlikely to contribute as strongly as the FV a... | GWASCAT | 19278955 | Detail |
| 0.123 | Graves Disease | [A genome-wide association study identifies two new risk loci for Graves\' disea... | GAD | 21841780 | Detail |
| 0.128 | Malignant neoplasm of pancreas | SNP rs505922, located within the first intron of the ABO gene, has been associat... | BeFree | 22642827 | Detail |
| 0.243 | duodenal ulcer | The T allele of rs2294008 encodes a translation initiation codon upstream of the... | GWASCAT | 22387998 | Detail |
| 0.004 | Malignant neoplasm of breast | Relationships between the ABO blood group SNP rs505922 and breast cancer phenoty... | BeFree | 22642827 | Detail |
| 0.129 | Venous thromboembolism | [Common susceptibility alleles are unlikely to contribute as strongly as the FV ... | GAD | 19278955 | Detail |
| 0.129 | Venous thromboembolism | Genetics of venous thrombosis: insights from a new genome wide association study... | GWASCAT | 21980494 | Detail |
| 0.002 | breast carcinoma | Relationships between the ABO blood group SNP rs505922 and breast cancer phenoty... | BeFree | 22642827 | Detail |
| 0.243 | duodenal ulcer | rs505922 at ABO was also associated with duodenal ulcer in a recessive model (OR... | BeFree | 22387998 | Detail |
| 0.128 | Malignant neoplasm of pancreas | Genome-wide association study identifies variants in the ABO locus associated wi... | GWASCAT | 19648918 | Detail |
| 0.129 | Pancreatic Neoplasm | [Genome-wide association study identifies variants in the ABO locus associated w... | GAD | 19648918 | Detail |
| 0.005 | pancreatic carcinoma | Recently, one single nucleotide polymorphism (SNP) rs505922 in ABO gene has been... | BeFree | 25656610 | Detail |
| 0.009 | Venous Thrombosis | [This study might also provide a valuable source of information to expand our un... | GAD | 21980494 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| [rs505922 at ABO was also associated with duodenal ulcer in a recessive model (OR = 1.32; P = 1.15 A... | DisGeNET | Detail |
| [Genome-wide association study identifies variants in the ABO locus associated with susceptibility t... | DisGeNET | Detail |
| SNP rs505922, located within the first intron of the ABO gene, has been associated with the adenocar... | DisGeNET | Detail |
| In this study, we carried out a three-stage study in 9529 patients with GD and 9984 controls to iden... | DisGeNET | Detail |
| Recently, one single nucleotide polymorphism (SNP) rs505922 in ABO gene has been implicated in susce... | DisGeNET | Detail |
| Common susceptibility alleles are unlikely to contribute as strongly as the FV and ABO loci to VTE r... | DisGeNET | Detail |
| [A genome-wide association study identifies two new risk loci for Graves\' disease.] | DisGeNET | Detail |
| SNP rs505922, located within the first intron of the ABO gene, has been associated with the adenocar... | DisGeNET | Detail |
| The T allele of rs2294008 encodes a translation initiation codon upstream of the reported site and c... | DisGeNET | Detail |
| Relationships between the ABO blood group SNP rs505922 and breast cancer phenotypes: a genotype-phen... | DisGeNET | Detail |
| [Common susceptibility alleles are unlikely to contribute as strongly as the FV and ABO loci to VTE ... | DisGeNET | Detail |
| Genetics of venous thrombosis: insights from a new genome wide association study. | DisGeNET | Detail |
| Relationships between the ABO blood group SNP rs505922 and breast cancer phenotypes: a genotype-phen... | DisGeNET | Detail |
| rs505922 at ABO was also associated with duodenal ulcer in a recessive model (OR = 1.32; P = 1.15 × ... | DisGeNET | Detail |
| Genome-wide association study identifies variants in the ABO locus associated with susceptibility to... | DisGeNET | Detail |
| [Genome-wide association study identifies variants in the ABO locus associated with susceptibility t... | DisGeNET | Detail |
| Recently, one single nucleotide polymorphism (SNP) rs505922 in ABO gene has been implicated in susce... | DisGeNET | Detail |
| [This study might also provide a valuable source of information to expand our understanding of biolo... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs505922 dbSNP
- Genome
- hg38
- Position
- chr9:133,273,813-133,273,813
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
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