chr1:67204530:G>A Detail (hg38) (IL23R, C1orf141)

Information

Genome

Assembly Position
hg19 chr1:67,670,213-67,670,213 View the variant detail on this assembly version.
hg38 chr1:67,204,530-67,204,530

HGVS

Type Transcript Protein
RefSeq NM_001276351.1:c.-104+27316C>T
Ensemble ENST00000371007.6:c.-104+27316C>T
Type Transcript Protein
RefSeq NM_144701.2:c.653-2380G>A
Ensemble ENST00000347310.10:c.653-2380G>A
ENST00000697154.1:c.653-2380G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.548
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 tgv1857541 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 tgv1857541 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 rs1004819 is the main disease-associated IL23R variant in German Crohn's disease... BeFree 17786191 Detail
0.371 Crohn Disease Genome-wide association study for Crohn's disease in the Quebec Founder Populati... GWASCAT 17804789 Detail
0.327 ulcerative colitis rs1004819 is the major IL23R variant associated with CD in the German population... BeFree 17786191 Detail
0.327 ulcerative colitis IL-23 receptor gene rs7517847 and rs1004819 SNPs in ulcerative colitis. BeFree 22735800 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
Annotation

Annotations

DescrptionSourceLinks
rs1004819 is the main disease-associated IL23R variant in German Crohn's disease patients: combined ... DisGeNET Detail
Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multip... DisGeNET Detail
rs1004819 is the major IL23R variant associated with CD in the German population, while the p.Arg381... DisGeNET Detail
IL-23 receptor gene rs7517847 and rs1004819 SNPs in ulcerative colitis. 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

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1004819 dbSNP
Genome
hg38
Position
chr1:67,204,530-67,204,530
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs1004819
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5482
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9188
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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