chr4:2963571:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:2,965,298-3,042,487 |
| hg38 | chr4:2,963,571-3,040,760 |
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 | Coronary Arteriosclerosis | NA | BeFree | Detail | |
| <0.001 | Coronary heart disease | NA | BeFree | Detail | |
| 0.002 | Hyperparathyroidism, Secondary | NA | GAD | Detail | |
| 0.002 | renal hypertension | NA | GAD | Detail | |
| 0.003 | essential hypertension | Tailed allele-specific primers were designed to amplify by PCR six biallelic SNP... | BeFree | 12446468 | Detail |
| 0.003 | essential hypertension | Constitutively activated GRK4 gene variants (R65L, A142V, and A486V), by themsel... | BeFree | 20153824 | Detail |
| 0.024 | Hypertensive disease | Constitutively activated GRK4 gene variants (R65L, A142V, and A486V), by themsel... | BeFree | 20153824 | Detail |
| <0.001 | myocardial infarction | NA | BeFree | Detail | |
| <0.001 | Cerebrovascular accident | NA | BeFree | Detail | |
| 0.003 | essential hypertension | In South Africa, GRK4 polymorphisms are more common in people of African descent... | BeFree | 25775155 | Detail |
| <0.001 | Renal sclerosis with hypertension | The therapeutic importance of the GRK4 single nucleotide polymorphisms (SNPs) wa... | BeFree | 25775155 | Detail |
| <0.001 | Chronic Kidney Insufficiency | We review here research in this field that has provided several translational op... | BeFree | 25134060 | Detail |
| <0.001 | Renal sclerosis with hypertension | Results suggest a sex-specific relationship between GRK4 A142V and blood pressur... | BeFree | 19119263 | Detail |
| <0.001 | Carcinogenesis | NA | BeFree | Detail | |
| <0.001 | breast carcinoma | NA | BeFree | Detail | |
| 0.002 | Systemic arterial pressure | NA | GAD | Detail | |
| <0.001 | Chronic Kidney Diseases | We review here research in this field that has provided several translational op... | BeFree | 25134060 | Detail |
| <0.001 | coronary artery disease | NA | BeFree | Detail | |
| <0.001 | myocardial infarction | We hypothesized that 3 nonsynonymous GRK4 single-nucleotide polymorphisms, R65L ... | BeFree | 22949529 | Detail |
| <0.001 | Cerebrovascular accident | We hypothesized that 3 nonsynonymous GRK4 single-nucleotide polymorphisms, R65L ... | BeFree | 22949529 | Detail |
| 0.005 | atherosclerosis | NA | GAD | Detail | |
| <0.001 | Malignant neoplasm of breast | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Tailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G pr... | DisGeNET | Detail |
| Constitutively activated GRK4 gene variants (R65L, A142V, and A486V), by themselves or by their inte... | DisGeNET | Detail |
| Constitutively activated GRK4 gene variants (R65L, A142V, and A486V), by themselves or by their inte... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In South Africa, GRK4 polymorphisms are more common in people of African descent, associated with im... | DisGeNET | Detail |
| The therapeutic importance of the GRK4 single nucleotide polymorphisms (SNPs) was emphasised in the ... | DisGeNET | Detail |
| We review here research in this field that has provided several translational opportunities, ranging... | DisGeNET | Detail |
| Results suggest a sex-specific relationship between GRK4 A142V and blood pressure response among Afr... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We review here research in this field that has provided several translational opportunities, ranging... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We hypothesized that 3 nonsynonymous GRK4 single-nucleotide polymorphisms, R65L (rs2960306), A142V (... | DisGeNET | Detail |
| We hypothesized that 3 nonsynonymous GRK4 single-nucleotide polymorphisms, R65L (rs2960306), A142V (... | 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
- rs386511346 dbSNP
- Genome
- hg38
- Position
- chr4:2,963,571-3,040,760
- Variant Type
- snv
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