chr7:91570154:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:91,570,154-91,739,987 |
| hg38 | chr7:91,940,840-92,110,673 |
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 | hypertrophic cardiomyopathy | NA | BeFree | Detail | |
| <0.001 | colorectal carcinoma | NA | BeFree | Detail | |
| 0.121 | long QT syndrome | AKAP9 has been identified as an LQTS-type 1-modifying gene. | BeFree,CLINVAR | 25087618 | Detail |
| 0.120 | Romano-Ward Syndrome | NA | ORPHANET | Detail | |
| 0.120 | Dermatologic disorders | NA | CTD_human | Detail | |
| 0.002 | Tobacco use disorder | NA | GAD | Detail | |
| <0.001 | colorectal carcinoma | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... | BeFree | 18619730 | Detail |
| 0.003 | colorectal cancer | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... | BeFree | 18619730 | Detail |
| 0.005 | Malignant neoplasm of lung | NA | GAD | Detail | |
| <0.001 | 5,10-Methylenetetrahydrofolate reductase deficiency | NA | BeFree | Detail | |
| 0.120 | Arsenic Poisoning | NA | CTD_human | Detail | |
| <0.001 | Thyroid carcinoma | NA | BeFree | Detail | |
| <0.001 | breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Congenital long QT syndrome | AKAP9 is a genetic modifier of congenital long-QT syndrome type 1. | BeFree | 25087618 | Detail |
| 0.003 | Mammary Neoplasms | NA | LHGDN | Detail | |
| 0.003 | colorectal cancer | NA | BeFree,GAD | Detail | |
| <0.001 | Alzheimer's disease | Two rare AKAP9 variants are associated with Alzheimer's disease in African Ameri... | BeFree | 25172201 | Detail |
| 0.003 | Malignant neoplasm of breast | NA | BeFree,GAD | Detail | |
| <0.001 | Malignant neoplasm of thyroid | NA | BeFree | Detail | |
| 0.003 | Carcinoma, Papillary | NA | LHGDN | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| AKAP9 has been identified as an LQTS-type 1-modifying gene. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... | DisGeNET | Detail |
| Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| AKAP9 is a genetic modifier of congenital long-QT syndrome type 1. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Two rare AKAP9 variants are associated with Alzheimer's disease in African Americans. | DisGeNET | Detail |
| NA | 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
- rs386559608 dbSNP
- Genome
- hg19
- Position
- chr7:91,570,154-91,739,987
- Variant Type
- snv
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