chr6:167534290:G>A Detail (hg19) (CCR6)

Information

Genome

Assembly Position
hg19 chr6:167,534,290-167,534,290
hg38 chr6:167,120,802-167,120,802 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004367.5:c.-98+8788G>A
Ensemble ENST00000400926.5:c.-98+8788G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.475
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 tgv27866188 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
0.253 rheumatoid arthritis Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk... GWASCAT 24782177 Detail
0.253 rheumatoid arthritis [Genome-wide association study meta-analysis identifies seven new rheumatoid art... GAD 20453842 Detail
0.168 rheumatoid arthritis Conversely, 3 of the 27 SNPs (CCR6 rs3093023, TAGAP rs394581, and TNFAIP3 rs6920... BeFree 21120996 Detail
0.253 rheumatoid arthritis Genome-wide association study meta-analysis identifies seven new rheumatoid arth... GWASCAT 20453842 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
Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europea... DisGeNET Detail
[Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.] DisGeNET Detail
Conversely, 3 of the 27 SNPs (CCR6 rs3093023, TAGAP rs394581, and TNFAIP3 rs6920220) demonstrated OR... 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
rs3093023 dbSNP
Genome
hg19
Position
chr6:167,534,290-167,534,290
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))
rs3093023
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4751
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7962
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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