chr1:67228519:A>G Detail (hg38) (IL23R, C1orf141)

Information

Genome

Assembly Position
hg19 chr1:67,694,202-67,694,202 View the variant detail on this assembly version.
hg38 chr1:67,228,519-67,228,519

HGVS

Type Transcript Protein
RefSeq NM_001276351.1:c.-104+3327T>C
Ensemble ENST00000371007.6:c.-104+3327T>C
Type Transcript Protein
RefSeq NM_144701.2:c.956-8194A>G
Ensemble ENST00000347310.10:c.956-8194A>G
ENST00000425614.3:c.191-8194A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.697
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 tgv1858175 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 tgv1858175 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 study for Crohn's disease in the Quebec Founder Populati... GWASCAT 17804789 Detail
0.368 Crohn Disease To investigate the interaction of interleukin-23 receptor (IL23R) (rs1004819 and... BeFree 20066736 Detail
0.371 Crohn Disease To investigate the interaction of interleukin-23 receptor (IL23R) (rs1004819 and... BeFree 20066736 Detail
0.560 Crohn Disease To investigate the interaction of interleukin-23 receptor (IL23R) (rs1004819 and... BeFree 20066736 Detail
0.050 Crohn Disease To investigate the interaction of interleukin-23 receptor (IL23R) (rs1004819 and... BeFree 20066736 Detail
0.327 ulcerative colitis Genome-wide association identifies multiple ulcerative colitis susceptibility lo... GWASCAT 20228799 Detail
0.311 psoriasis Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathw... GWASCAT 19169254 Detail
0.020 ulcerative colitis The IL23R rs2201841 homozygous genotype and IBD5 carrier status together did not... BeFree 24415875 Detail
0.327 ulcerative colitis The IL23R rs2201841 homozygous genotype and IBD5 carrier status together did not... BeFree 24415875 Detail
0.016 Arthritis, Psoriatic IL-23R gene polymorphism rs2201841 is associated with psoriatic arthritis. BeFree 24910145 Detail
Annotation

Annotations

DescrptionSourceLinks
Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multip... DisGeNET Detail
To investigate the interaction of interleukin-23 receptor (IL23R) (rs1004819 and rs2201841), autopha... DisGeNET Detail
To investigate the interaction of interleukin-23 receptor (IL23R) (rs1004819 and rs2201841), autopha... DisGeNET Detail
To investigate the interaction of interleukin-23 receptor (IL23R) (rs1004819 and rs2201841), autopha... DisGeNET Detail
To investigate the interaction of interleukin-23 receptor (IL23R) (rs1004819 and rs2201841), autopha... DisGeNET Detail
Genome-wide association identifies multiple ulcerative colitis susceptibility loci. DisGeNET Detail
Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. DisGeNET Detail
The IL23R rs2201841 homozygous genotype and IBD5 carrier status together did not confer susceptibili... DisGeNET Detail
The IL23R rs2201841 homozygous genotype and IBD5 carrier status together did not confer susceptibili... DisGeNET Detail
IL-23R gene polymorphism rs2201841 is associated with psoriatic arthritis. DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2201841 dbSNP
Genome
hg38
Position
chr1:67,228,519-67,228,519
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))
rs2201841
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6968
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11678
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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