chr1:67215986:T>G Detail (hg38) (IL23R, C1orf141)

Information

Genome

Assembly Position
hg19 chr1:67,681,669-67,681,669 View the variant detail on this assembly version.
hg38 chr1:67,215,986-67,215,986

HGVS

Type Transcript Protein
RefSeq NM_001276351.1:c.-104+15860A>C
Ensemble ENST00000371007.6:c.-104+15860A>C
Type Transcript Protein
RefSeq NM_144701.2:c.799-3588T>G
Ensemble ENST00000347310.10:c.799-3588T>G
ENST00000425614.3:c.34-3588T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.443
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 tgv1857851 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 tgv1857851 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
0.327 ulcerative colitis IL-23 receptor gene rs7517847 and rs1004819 SNPs in ulcerative colitis. BeFree 22735800 Detail
0.013 rheumatoid arthritis Association of interleukin 23 receptor gene polymorphisms (rs10489629, rs7517847... BeFree 22718508 Detail
0.371 Crohn Disease Genome-wide association study identifies new susceptibility loci for Crohn disea... GWASCAT 17435756 Detail
0.371 Crohn Disease The data show an association of both IL23R SNPs with overall IBD (statistically ... BeFree 18383521 Detail
0.327 ulcerative colitis The data show an association of both IL23R SNPs with overall IBD (statistically ... BeFree 18383521 Detail
Annotation

Annotations

DescrptionSourceLinks
IL-23 receptor gene rs7517847 and rs1004819 SNPs in ulcerative colitis. DisGeNET Detail
Association of interleukin 23 receptor gene polymorphisms (rs10489629, rs7517847) with rheumatoid ar... DisGeNET Detail
Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates au... DisGeNET Detail
The data show an association of both IL23R SNPs with overall IBD (statistically stronger, rs7517847;... DisGeNET Detail
The data show an association of both IL23R SNPs with overall IBD (statistically stronger, rs7517847;... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs7517847 dbSNP
Genome
hg38
Position
chr1:67,215,986-67,215,986
Variant Type
snv
Reference Allele
T
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))
rs7517847
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4426
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7418
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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