chr1:67222666:T>C Detail (hg38) (IL23R, C1orf141)

Information

Genome

Assembly Position
hg19 chr1:67,688,349-67,688,349 View the variant detail on this assembly version.
hg38 chr1:67,222,666-67,222,666

HGVS

Type Transcript Protein
RefSeq NM_001276351.1:c.-104+9180A>G
Ensemble ENST00000371007.6:c.-104+9180A>G
Type Transcript Protein
RefSeq NM_144701.2:c.955+2936T>C
Ensemble ENST00000347310.10:c.955+2936T>C
ENST00000425614.3:c.190+2936T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.296
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
HGNC 32044 HGNC
Ensembl ENSG00000203963 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv1858047 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 607562 OMIM
HGNC 19100 HGNC
Ensembl ENSG00000162594 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv1858047 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
0.013 rheumatoid arthritis Association of interleukin 23 receptor gene polymorphisms (rs10489629, rs7517847... BeFree 22718508 Detail
Annotation

Annotations

DescrptionSourceLinks
Association of interleukin 23 receptor gene polymorphisms (rs10489629, rs7517847) with rheumatoid ar... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs10489629 dbSNP
Genome
hg38
Position
chr1:67,222,666-67,222,666
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs10489629
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2963
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4966
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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