chr6:167533062:A>G Detail (hg19) (CCR6)

Information

Genome

Assembly Position
hg19 chr6:167,533,062-167,533,062
hg38 chr6:167,119,574-167,119,574 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004367.5:c.-98+7560A>G
Ensemble ENST00000400926.5:c.-98+7560A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.426
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 tgv27866173 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
0.253 rheumatoid arthritis Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk... GWASCAT 24782177 Detail
Annotation

Annotations

DescrptionSourceLinks
Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europea... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1854853 dbSNP
Genome
hg19
Position
chr6:167,533,062-167,533,062
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))
rs1854853
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4256
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7133
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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