chr10:122454653:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:124,214,169-124,216,868 |
| hg38 | chr10:122,454,653-122,457,352 |
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 |
|---|---|---|---|---|---|
| 0.017 | Choroid Diseases | NA | GAD | Detail | |
| 0.002 | choroiditis | NA | GAD | Detail | |
| <0.001 | Coronary Arteriosclerosis | NA | BeFree | Detail | |
| <0.001 | Coronary heart disease | NA | BeFree | Detail | |
| 0.007 | Diabetes Mellitus, Non-Insulin-Dependent | NA | GAD | Detail | |
| 0.003 | Disorder of eye | Treatment response to antioxidants and zinc based on CFH and ARMS2 genetic risk ... | BeFree,LHGDN | 25200399 | Detail |
| <0.001 | congestive heart failure | NA | BeFree | Detail | |
| 0.003 | Hypertensive disease | NA | BeFree,GAD | Detail | |
| 0.002 | Inflammatory Bowel Diseases | NA | GAD | Detail | |
| 0.002 | myocardial infarction | NA | GAD | Detail | |
| 0.002 | Pathologic Neovascularization | NA | GAD | Detail | |
| 0.005 | Prostatic Neoplasms | NA | GAD | Detail | |
| <0.001 | Protein Deficiency | NA | BeFree | Detail | |
| 0.002 | Retinal Diseases | NA | GAD | Detail | |
| 0.005 | retinal drusen | NA | GAD | Detail | |
| 0.002 | Retinal Neovascularization | NA | GAD | Detail | |
| 0.002 | Vitreous Hemorrhage | NA | GAD | Detail | |
| 0.019 | Peripheral Vascular Diseases | NA | GAD | Detail | |
| <0.001 | Photopsia | NA | BeFree | Detail | |
| <0.001 | Serous retinal detachment | NA | BeFree | Detail | |
| 0.003 | Atrophic | NA | LHGDN | Detail | |
| <0.001 | Retinal Pigment Epithelial Detachment | NA | BeFree | Detail | |
| 0.404 | age related macular degeneration | Genotype distributions of ARMS2 (A69S) and CFH (I62V) in patients with CVH and t... | BeFree | 24781946 | Detail |
| 0.404 | age related macular degeneration | Furthermore, an independent association of C2/CFB variants was found for both ty... | BeFree | 22232432 | Detail |
| 0.002 | Blind Vision | NA | GAD | Detail | |
| 0.020 | Choroidal Neovascularization | NA | GAD,LHGDN | Detail | |
| <0.001 | Chronic central serous chorioretinopathy | Intriguingly, alleles in ARMS2 and CFH that confer risk of AMD may be protective... | BeFree | 25439433 | Detail |
| <0.001 | Chlamydia pneumoniae infection | Calcium, ARMS2 genotype, and Chlamydia pneumoniae infection in early age-related... | BeFree | 25792034 | Detail |
| 0.002 | Drusen | Multivariate analyses identified a significant association in serum calcium leve... | BeFree | 25792034 | Detail |
| 0.002 | Drusen | Older age and the presence of CFH and ARMS2 risk alleles are 2 main risk factors... | BeFree | 25838066 | Detail |
| 0.010 | Geographic Atrophy | Analyzing the currently largest dataset on GA lesion growth (N = 388), our findi... | BeFree,GAD | 25962167 | Detail |
| <0.001 | Soft drusen | NA | BeFree | Detail | |
| <0.001 | coronary artery disease | NA | BeFree | Detail | |
| <0.001 | Unspecified visual loss | NA | BeFree | Detail | |
| 0.005 | Alzheimer's disease | NA | GAD,LHGDN | Detail | |
| 0.005 | atherosclerosis | NA | GAD | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Treatment response to antioxidants and zinc based on CFH and ARMS2 genetic risk allele number in the... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Genotype distributions of ARMS2 (A69S) and CFH (I62V) in patients with CVH and type 1 CNV significan... | DisGeNET | Detail |
| Furthermore, an independent association of C2/CFB variants was found for both typical AMD and PCV wi... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Intriguingly, alleles in ARMS2 and CFH that confer risk of AMD may be protective for cCSC, and allel... | DisGeNET | Detail |
| Calcium, ARMS2 genotype, and Chlamydia pneumoniae infection in early age-related macular degeneratio... | DisGeNET | Detail |
| Multivariate analyses identified a significant association in serum calcium level (odds ratio [OR] =... | DisGeNET | Detail |
| Older age and the presence of CFH and ARMS2 risk alleles are 2 main risk factors associated with the... | DisGeNET | Detail |
| Analyzing the currently largest dataset on GA lesion growth (N = 388), our findings suggest a signif... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | 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
- rs386614680 dbSNP
- Genome
- hg38
- Position
- chr10:122,454,653-122,457,352
- Variant Type
- snv
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