chr4:110659067:T>C Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:110,659,067-110,659,067 |
| hg38 | chr4:109,737,911-109,737,911 View the variant detail on this assembly version. |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.369 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
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 | myopia | In univariate analysis, the rs10033900 SNP located in CFI was associated with my... | BeFree | 22678500 | Detail |
| 0.480 | age related macular degeneration | There was a possible association between LIPC and complement factor H (CFH) rs14... | BeFree | 21139980 | Detail |
| 0.129 | age related macular degeneration | NA | GAD | Detail | |
| 0.129 | age related macular degeneration | [implicate different biologic pathways than previously reported and provide new ... | GAD | 20385826 | Detail |
| 0.135 | age related macular degeneration | There was a possible association between LIPC and complement factor H (CFH) rs14... | BeFree | 21139980 | Detail |
| 0.480 | age related macular degeneration | Individuals with the homozygous CFI rs10033900 TT genotype had a 2.9 [1.2-7.2]-f... | BeFree | 21906714 | Detail |
| 0.129 | age related macular degeneration | [Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-rel... | GAD | 21665990 | Detail |
| <0.001 | myopia | One SNP (rs10033900) in the CFI gene, which encodes a protein involved in the in... | BeFree | 22678500 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In univariate analysis, the rs10033900 SNP located in CFI was associated with myopic CNV (P = 0.0011... | DisGeNET | Detail |
| There was a possible association between LIPC and complement factor H (CFH) rs1410996, and a possibl... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| [implicate different biologic pathways than previously reported and provide new avenues for preventi... | DisGeNET | Detail |
| There was a possible association between LIPC and complement factor H (CFH) rs1410996, and a possibl... | DisGeNET | Detail |
| Individuals with the homozygous CFI rs10033900 TT genotype had a 2.9 [1.2-7.2]-fold increased risk, ... | DisGeNET | Detail |
| [Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degener... | DisGeNET | Detail |
| One SNP (rs10033900) in the CFI gene, which encodes a protein involved in the inflammatory pathway, ... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs10033900 dbSNP
- Genome
- hg19
- Position
- chr4:110,659,067-110,659,067
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs10033900
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.369
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 6184
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser