chr5:159322080:G>T Detail (hg38) (IL12B)

Information

Genome

Assembly Position
hg19 chr5:158,749,088-158,749,088 View the variant detail on this assembly version.
hg38 chr5:159,322,080-159,322,080

HGVS

Type Transcript Protein
RefSeq NM_002187.2:c.482+314C>A
Ensemble ENST00000231228.3:c.482+314C>A
ENST00000696750.1:c.-148-1560C>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.767
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 tgv23458216 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 Tuberculosis, Pulmonary Using multiple corrections, significant overall risk against PTB was observed at... BeFree 22771610 Detail
Annotation

Annotations

DescrptionSourceLinks
Using multiple corrections, significant overall risk against PTB was observed at seven loci which in... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2853694 dbSNP
Genome
hg38
Position
chr5:159,322,080-159,322,080
Variant Type
snv
Reference Allele
G
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))
rs2853694
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.767
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12855
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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