chr8:23082971:G>T Detail (hg19) (TNFRSF10A-DT, LOC111255645)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:23,082,971-23,082,971 |
| hg38 | chr8:23,225,458-23,225,458 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:0.331 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
not provided
|
| Review star |  |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
not provided
|
no assertion provided | not provided |
not provided
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.243 | age related macular degeneration | Seven new loci associated with age-related macular degeneration. | GWASCAT | 23455636 | Detail |
| 0.404 | age related macular degeneration | In addition to CFH (rs800292, P = 4.23 × 10(-15)) and ARMS2 (rs3750847, P = 8.67... | BeFree | 21909106 | Detail |
| 0.243 | age related macular degeneration | In addition to CFH (rs800292, P = 4.23 × 10(-15)) and ARMS2 (rs3750847, P = 8.67... | GWASCAT | 21909106 | Detail |
| 0.243 | age related macular degeneration | TNFRSF10A-LOC389641 rs13278062 but not REST-C4orf14-POLR2B-IGFBP7 rs1713985 was ... | BeFree | 24235014 | Detail |
| 0.480 | age related macular degeneration | In addition to CFH (rs800292, P = 4.23 × 10(-15)) and ARMS2 (rs3750847, P = 8.67... | BeFree | 21909106 | Detail |
| 0.120 | age related macular degeneration | In addition to CFH (rs800292, P = 4.23 × 10(-15)) and ARMS2 (rs3750847, P = 8.67... | GWASCAT | 21909106 | Detail |
| <0.001 | age related macular degeneration | TNFRSF10A-LOC389641 rs13278062 but not REST-C4orf14-POLR2B-IGFBP7 rs1713985 was ... | BeFree | 24235014 | Detail |
| 0.243 | age related macular degeneration | [In addition to CFH (rs800292, P = 4.23 A 10(-15)) and ARMS2 (rs3750847, P = 8.6... | GAD | 21909106 | Detail |
| <0.001 | age related macular degeneration | TNFRSF10A-LOC389641 rs13278062 but not REST-C4orf14-POLR2B-IGFBP7 rs1713985 was ... | BeFree | 24235014 | Detail |
| 0.120 | age related macular degeneration | Seven new loci associated with age-related macular degeneration. | GWASCAT | 23455636 | Detail |
| <0.001 | age related macular degeneration | TNFRSF10A-LOC389641 rs13278062 but not REST-C4orf14-POLR2B-IGFBP7 rs1713985 was ... | BeFree | 24235014 | Detail |
| 0.120 | age related macular degeneration | TNFRSF10A-LOC389641 rs13278062 but not REST-C4orf14-POLR2B-IGFBP7 rs1713985 was ... | BeFree | 24235014 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NR_033928.1(TNFRSF10A-DT):n.238G>T AND not provided | ClinVar | Detail |
| Seven new loci associated with age-related macular degeneration. | DisGeNET | Detail |
| In addition to CFH (rs800292, P = 4.23 × 10(-15)) and ARMS2 (rs3750847, P = 8.67 × 10(-29)) loci, we... | DisGeNET | Detail |
| In addition to CFH (rs800292, P = 4.23 × 10(-15)) and ARMS2 (rs3750847, P = 8.67 × 10(-29)) loci, we... | DisGeNET | Detail |
| TNFRSF10A-LOC389641 rs13278062 but not REST-C4orf14-POLR2B-IGFBP7 rs1713985 was found associated wit... | DisGeNET | Detail |
| In addition to CFH (rs800292, P = 4.23 × 10(-15)) and ARMS2 (rs3750847, P = 8.67 × 10(-29)) loci, we... | DisGeNET | Detail |
| In addition to CFH (rs800292, P = 4.23 × 10(-15)) and ARMS2 (rs3750847, P = 8.67 × 10(-29)) loci, we... | DisGeNET | Detail |
| TNFRSF10A-LOC389641 rs13278062 but not REST-C4orf14-POLR2B-IGFBP7 rs1713985 was found associated wit... | DisGeNET | Detail |
| [In addition to CFH (rs800292, P = 4.23 A 10(-15)) and ARMS2 (rs3750847, P = 8.67 A 10(-29)) loci, w... | DisGeNET | Detail |
| TNFRSF10A-LOC389641 rs13278062 but not REST-C4orf14-POLR2B-IGFBP7 rs1713985 was found associated wit... | DisGeNET | Detail |
| Seven new loci associated with age-related macular degeneration. | DisGeNET | Detail |
| TNFRSF10A-LOC389641 rs13278062 but not REST-C4orf14-POLR2B-IGFBP7 rs1713985 was found associated wit... | DisGeNET | Detail |
| TNFRSF10A-LOC389641 rs13278062 but not REST-C4orf14-POLR2B-IGFBP7 rs1713985 was found associated wit... | 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
- rs13278062 dbSNP
- Genome
- hg19
- Position
- chr8:23,082,971-23,082,971
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- 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))
- rs13278062
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3308
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5527
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16710
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