chr1:67253446:G>A Detail (hg38) (IL23R)

Information

Genome

Assembly Position
hg19 chr1:67,719,129-67,719,129 View the variant detail on this assembly version.
hg38 chr1:67,253,446-67,253,446

HGVS

Type Transcript Protein
RefSeq NM_144701.2:c.1149-2391G>A
Ensemble ENST00000347310.10:c.1149-2391G>A
ENST00000425614.3:c.384-2391G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.107
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 607562 OMIM
HGNC 19100 HGNC
Ensembl ENSG00000162594 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv1858703 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
<0.001 Giant Cell Arteritis Role of rs1343151 IL23R and rs3790567 IL12RB2 polymorphisms in biopsy-proven gia... BeFree 21285166 Detail
<0.001 Giant Cell Arteritis Role of rs1343151 IL23R and rs3790567 IL12RB2 polymorphisms in biopsy-proven gia... BeFree 21285166 Detail
Annotation

Annotations

DescrptionSourceLinks
Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multip... DisGeNET Detail
Role of rs1343151 IL23R and rs3790567 IL12RB2 polymorphisms in biopsy-proven giant cell arteritis. DisGeNET Detail
Role of rs1343151 IL23R and rs3790567 IL12RB2 polymorphisms in biopsy-proven giant cell arteritis. DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1343151 dbSNP
Genome
hg38
Position
chr1:67,253,446-67,253,446
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))
rs1343151
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1069
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1792
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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