chr1:67675516:C>T Detail (hg19) (IL23R, C1orf141)

Information

Genome

Assembly Position
hg19 chr1:67,675,516-67,675,516
hg38 chr1:67,209,833-67,209,833 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001276351.1:c.-104+22013G>A
Ensemble ENST00000371007.6:c.-104+22013G>A
Type Transcript Protein
RefSeq NM_144701.2:c.798+2778C>T
Ensemble ENST00000697165.1:c.652+8936C>T
ENST00000347310.10:c.798+2778C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.535
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 tgv1857725 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 tgv1857725 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
0.007 Autoimmune Diseases In conclusion, we confirmed the susceptibility or protective associations of IL2... BeFree 19522770 Detail
0.234 ulcerative colitis The study indicates that IL23R-rs11805303 and PTPN2-rs2542151 might contribute t... BeFree 22426692 Detail
0.327 ulcerative colitis The study indicates that IL23R-rs11805303 and PTPN2-rs2542151 might contribute t... BeFree 22426692 Detail
0.129 ulcerative colitis The study indicates that IL23R-rs11805303 and PTPN2-rs2542151 might contribute t... BeFree 22426692 Detail
0.371 Crohn Disease Genome-wide association study of 14,000 cases of seven common diseases and 3,000... GWASCAT 17554300 Detail
0.007 Autoimmune Diseases We confirmed the association of IL23R with psoriasis in a Hungarian population a... BeFree 20978829 Detail
Annotation

Annotations

DescrptionSourceLinks
In conclusion, we confirmed the susceptibility or protective associations of IL23R polymorphisms wit... DisGeNET Detail
The study indicates that IL23R-rs11805303 and PTPN2-rs2542151 might contribute to the development of... DisGeNET Detail
The study indicates that IL23R-rs11805303 and PTPN2-rs2542151 might contribute to the development of... DisGeNET Detail
The study indicates that IL23R-rs11805303 and PTPN2-rs2542151 might contribute to the development of... DisGeNET Detail
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. DisGeNET Detail
We confirmed the association of IL23R with psoriasis in a Hungarian population and demonstrated the ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs11805303 dbSNP
Genome
hg19
Position
chr1:67,675,516-67,675,516
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs11805303
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.535
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8967
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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