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

DescrptionSourceLinks
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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