chr6:137681500:C>T Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:138,002,637-138,002,637 View the variant detail on this assembly version. |
| hg38 | chr6:137,681,500-137,681,500 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.071 | |
| 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 |
|---|---|---|---|---|---|
| 0.168 | rheumatoid arthritis | After evaluating and adjusting for technical and population biases, we identifie... | BeFree | 17982456 | Detail |
| 0.317 | rheumatoid arthritis | Childhood-onset RA was associated with TNFAIP3 rs10499194 (OR 0.60 [95% confiden... | BeFree | 23450725 | Detail |
| 0.017 | rheumatoid arthritis | After evaluating and adjusting for technical and population biases, we identifie... | BeFree | 17982456 | Detail |
| 0.017 | rheumatoid arthritis | [After evaluating and adjusting for technical and population biases, we identifi... | GAD | 17982456 | Detail |
| 0.168 | rheumatoid arthritis | Childhood-onset RA was associated with TNFAIP3 rs10499194 (OR 0.60 [95% confiden... | BeFree | 23450725 | Detail |
| 0.017 | rheumatoid arthritis | [Additionally, SNPs rs7574865STAT4 (P = 9.2*10-6; OR = 1.71, 95% CI = 1.35 - 2.1... | GAD | 19445664 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| After evaluating and adjusting for technical and population biases, we identified a SNP at 6q23 (rs1... | DisGeNET | Detail |
| Childhood-onset RA was associated with TNFAIP3 rs10499194 (OR 0.60 [95% confidence interval 0.44-0.8... | DisGeNET | Detail |
| After evaluating and adjusting for technical and population biases, we identified a SNP at 6q23 (rs1... | DisGeNET | Detail |
| [After evaluating and adjusting for technical and population biases, we identified a SNP at 6q23 (rs... | DisGeNET | Detail |
| Childhood-onset RA was associated with TNFAIP3 rs10499194 (OR 0.60 [95% confidence interval 0.44-0.8... | DisGeNET | Detail |
| [Additionally, SNPs rs7574865STAT4 (P = 9.2*10-6; OR = 1.71, 95% CI = 1.35 - 2.18) and rs2476601PTPN... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs10499194 dbSNP
- Genome
- hg38
- Position
- chr6:137,681,500-137,681,500
- 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))
- rs10499194
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0711
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1192
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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