chr5:158750769:C>T Detail (hg19) (IL12B)

Information

Genome

Assembly Position
hg19 chr5:158,750,769-158,750,769
hg38 chr5:159,323,761-159,323,761 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002187.2:c.89-432G>A
Ensemble ENST00000231228.3:c.89-432G>A
ENST00000696750.1:c.-148-3241G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.554
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 161561 OMIM
HGNC 5970 HGNC
Ensembl ENSG00000113302 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv23458337 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
0.064 tuberculosis The variant of the TNFA gene at rs3093662, the IL12 gene at rs3213094 and rs3212... BeFree 21463712 Detail
0.061 tuberculosis The variant of the TNFA gene at rs3093662, the IL12 gene at rs3213094 and rs3212... BeFree 21463712 Detail
0.303 psoriasis Psoriasis genome-wide association study identifies susceptibility variants withi... GWASCAT 19169255 Detail
0.303 psoriasis [A genome-wide association study identifies new psoriasis susceptibility loci an... GAD 20953190 Detail
0.303 psoriasis A genome-wide association study identifies new psoriasis susceptibility loci and... GWASCAT 20953190 Detail
Annotation

Annotations

DescrptionSourceLinks
The variant of the TNFA gene at rs3093662, the IL12 gene at rs3213094 and rs3212220 and the IL10 gen... DisGeNET Detail
The variant of the TNFA gene at rs3093662, the IL12 gene at rs3213094 and rs3212220 and the IL10 gen... DisGeNET Detail
Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster a... DisGeNET Detail
[A genome-wide association study identifies new psoriasis susceptibility loci and an interaction bet... DisGeNET Detail
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction betw... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3213094 dbSNP
Genome
hg19
Position
chr5:158,750,769-158,750,769
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))
rs3213094
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5538
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9282
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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