chr1:67725120:C>A Detail (hg19) (IL23R)

Information

Genome

Assembly Position
hg19 chr1:67,725,120-67,725,120
hg38 chr1:67,259,437-67,259,437 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_144701.2:c.*309C>A
Ensemble ENST00000347310.10:c.*309C>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.695
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 tgv1858925 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 Solid tumour Functional IL-23R rs10889677 genetic polymorphism and risk of multiple solid tum... BeFree 24278297 Detail
<0.001 breast carcinoma We found that the C allele of the rs10889677A&gt;C polymorphism in the 3'-untran... BeFree 23042301 Detail
0.327 ulcerative colitis Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide ... GWASCAT 19122664 Detail
<0.001 Malignant neoplasm of breast We found that the C allele of the rs10889677A&gt;C polymorphism in the 3'-untran... BeFree 23042301 Detail
Annotation

Annotations

DescrptionSourceLinks
Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multip... DisGeNET Detail
Functional IL-23R rs10889677 genetic polymorphism and risk of multiple solid tumors: a meta-analysis... DisGeNET Detail
We found that the C allele of the rs10889677A&gt;C polymorphism in the 3'-untranslated region of IL-... DisGeNET Detail
Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. DisGeNET Detail
We found that the C allele of the rs10889677A&gt;C polymorphism in the 3'-untranslated region of IL-... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs10889677 dbSNP
Genome
hg19
Position
chr1:67,725,120-67,725,120
Variant Type
snv
Reference Allele
C
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))
rs10889677
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6948
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11645
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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