chr6:137685367:G>A Detail (hg38)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr6:138,006,504-138,006,504 View the variant detail on this assembly version. |
hg38 | chr6:137,685,367-137,685,367 |
HGVS
[No Data.]
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.001 | |
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 | Conversely, 3 of the 27 SNPs (CCR6 rs3093023, TAGAP rs394581, and TNFAIP3 rs6920... | BeFree | 21120996 | Detail |
0.017 | rheumatoid arthritis | [After evaluating and adjusting for technical and population biases, we identifi... | GAD | 17982456 | Detail |
0.168 | rheumatoid arthritis | [Additionally, SNPs rs7574865STAT4 (P = 9.2*10-6; OR = 1.71, 95% CI = 1.35 - 2.1... | GAD | 19445664 | Detail |
0.017 | rheumatoid arthritis | [Common variants at CD40 and other loci confer risk of rheumatoid arthritis.] | GAD | 18794853 | Detail |
0.002 | ulcerative colitis | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing... | GAD | 21297633 | Detail |
0.017 | rheumatoid arthritis | [Genome-wide association study meta-analysis identifies seven new rheumatoid art... | GAD | 20453842 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Conversely, 3 of the 27 SNPs (CCR6 rs3093023, TAGAP rs394581, and TNFAIP3 rs6920220) demonstrated OR... | DisGeNET | Detail |
[After evaluating and adjusting for technical and population biases, we identified a SNP at 6q23 (rs... | DisGeNET | Detail |
[Additionally, SNPs rs7574865STAT4 (P = 9.2*10-6; OR = 1.71, 95% CI = 1.35 - 2.18) and rs2476601PTPN... | DisGeNET | Detail |
[Common variants at CD40 and other loci confer risk of rheumatoid arthritis.] | DisGeNET | Detail |
[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confi... | DisGeNET | Detail |
[Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.] | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs6920220 dbSNP
- Genome
- hg38
- Position
- chr6:137,685,367-137,685,367
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- 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))
- rs6920220
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0013
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 22
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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