chr1:67236843:T>G Detail (hg38) (IL23R)

Information

Genome

Assembly Position
hg19 chr1:67,702,526-67,702,526 View the variant detail on this assembly version.
hg38 chr1:67,236,843-67,236,843

HGVS

Type Transcript Protein
RefSeq NM_144701.2:c.1045+41T>G
Ensemble ENST00000347310.10:c.1045+41T>G
ENST00000425614.3:c.280+41T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
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 tgv299088677 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
0.371 Crohn Disease Genome-wide association defines more than 30 distinct susceptibility loci for Cr... GWASCAT 18587394 Detail
0.371 Crohn Disease Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disea... GWASCAT 20570966 Detail
0.397 Inflammatory Bowel Diseases In genotype-association SNP analysis, all NOD2 SNPs (rs5743293, rs2066844, rs206... BeFree 22269043 Detail
0.340 Inflammatory Bowel Diseases In genotype-association SNP analysis, all NOD2 SNPs (rs5743293, rs2066844, rs206... BeFree 22269043 Detail
0.371 Crohn Disease Genome-wide association study for Crohn's disease in the Quebec Founder Populati... GWASCAT 17804789 Detail
0.001 psoriasis Additionally, observed stronger associations with SNPs rs11209026 and rs11465804... BeFree 19189980 Detail
Annotation

Annotations

DescrptionSourceLinks
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. DisGeNET Detail
Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease. DisGeNET Detail
In genotype-association SNP analysis, all NOD2 SNPs (rs5743293, rs2066844, rs2066845) and the IL23r ... DisGeNET Detail
In genotype-association SNP analysis, all NOD2 SNPs (rs5743293, rs2066844, rs2066845) and the IL23r ... DisGeNET Detail
Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multip... DisGeNET Detail
Additionally, observed stronger associations with SNPs rs11209026 and rs11465804 upon exclusion of I... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg38
Position
chr1:67,236,843-67,236,843
Variant Type
snv
Reference Allele
T
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8420
East Asian Allele Counts (ExAC)
4
East Asian Heterozygous Counts (ExAC)
4
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
4.7505938242280285E-4
Chromosome Counts in All Race (ExAC)
119302
Allele Counts in All Race (ExAC)
5250
Heterozygous Counts in All Race (ExAC)
4944
Homozygous Counts in All Race (ExAC)
153
Allele Frequency in All Race (ExAC)
0.044005968047476154
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