chr6:167119305:A>G Detail (hg38) (CCR6)

Information

Genome

Assembly Position
hg19 chr6:167,532,793-167,532,793 View the variant detail on this assembly version.
hg38 chr6:167,119,305-167,119,305

HGVS

Type Transcript Protein
RefSeq NM_004367.5:c.-98+7291A>G
Ensemble ENST00000400926.5:c.-98+7291A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.524
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
Type Database ID Link
Gene MIM 601835 OMIM
HGNC 1607 HGNC
Ensembl ENSG00000112486 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv27866168 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.051 rheumatoid arthritis Among these associations, we found that 8 single-nucleotide polymorphisms (SNP; ... BeFree 23678157 Detail
0.123 rheumatoid arthritis Among these associations, we found that 8 single-nucleotide polymorphisms (SNP; ... BeFree 23678157 Detail
0.128 rheumatoid arthritis Among these associations, we found that 8 single-nucleotide polymorphisms (SNP; ... BeFree 23678157 Detail
0.005 psoriasis Evaluation of blood redox-balance, nitric oxide content and CCR6 rs3093024 in th... BeFree 25879557 Detail
0.253 rheumatoid arthritis A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibil... GWASCAT 20453841 Detail
0.253 rheumatoid arthritis [A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibi... GAD 20453841 Detail
0.129 rheumatoid arthritis Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... BeFree 23577190 Detail
0.006 rheumatoid arthritis Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... BeFree 23577190 Detail
0.248 rheumatoid arthritis Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... BeFree 23577190 Detail
0.123 rheumatoid arthritis Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... BeFree 23577190 Detail
<0.001 rheumatoid arthritis Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... BeFree 23577190 Detail
0.168 rheumatoid arthritis Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... BeFree 23577190 Detail
0.243 rheumatoid arthritis Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... BeFree 23577190 Detail
0.243 rheumatoid arthritis Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... BeFree 23577190 Detail
0.243 rheumatoid arthritis Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... BeFree 23577190 Detail
0.123 rheumatoid arthritis Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... BeFree 23577190 Detail
Annotation

Annotations

DescrptionSourceLinks
Among these associations, we found that 8 single-nucleotide polymorphisms (SNP; rs1600249, rs2736340... DisGeNET Detail
Among these associations, we found that 8 single-nucleotide polymorphisms (SNP; rs1600249, rs2736340... DisGeNET Detail
Among these associations, we found that 8 single-nucleotide polymorphisms (SNP; rs1600249, rs2736340... DisGeNET Detail
Evaluation of blood redox-balance, nitric oxide content and CCR6 rs3093024 in the genetic susceptibi... DisGeNET Detail
A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility. DisGeNET Detail
[A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility.] DisGeNET Detail
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... DisGeNET Detail
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... DisGeNET Detail
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... DisGeNET Detail
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... DisGeNET Detail
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... DisGeNET Detail
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... DisGeNET Detail
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... DisGeNET Detail
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... DisGeNET Detail
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... DisGeNET Detail
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3093024 dbSNP
Genome
hg38
Position
chr6:167,119,305-167,119,305
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs3093024
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5243
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8788
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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