chr2:60854407:C>T Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:61,081,542-61,081,542 View the variant detail on this assembly version. |
| hg38 | chr2:60,854,407-60,854,407 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.184 | |
| 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 |
|---|---|---|---|---|---|
| 0.253 | rheumatoid arthritis | The rs13017599 polymorphism is known to associate with rheumatoid arthritis (RA)... | BeFree | 22170493 | Detail |
| <0.001 | Psoriasis vulgaris | The rs13017599 polymorphism is known to associate with rheumatoid arthritis (RA)... | BeFree | 22170493 | Detail |
| 0.120 | Arthritis, Psoriatic | Genome-wide meta-analysis of psoriatic arthritis identifies susceptibility locus... | GWASCAT | 22170493 | Detail |
| 0.120 | psoriasis | Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insigh... | GWASCAT | 25574825 | Detail |
| 0.120 | psoriasis | A genome-wide association study identifies new psoriasis susceptibility loci and... | GWASCAT | 20953190 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The rs13017599 polymorphism is known to associate with rheumatoid arthritis (RA), and another SNP ne... | DisGeNET | Detail |
| The rs13017599 polymorphism is known to associate with rheumatoid arthritis (RA), and another SNP ne... | DisGeNET | Detail |
| Genome-wide meta-analysis of psoriatic arthritis identifies susceptibility locus at REL. | DisGeNET | Detail |
| Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing gene... | DisGeNET | Detail |
| A genome-wide association study identifies new psoriasis susceptibility loci and an interaction betw... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs702873 dbSNP
- Genome
- hg38
- Position
- chr2:60,854,407-60,854,407
- Variant Type
- snv
- Reference Allele
- C
- 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))
- rs702873
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1835
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3076
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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