chr3:159995680:G>A Detail (hg38) (IL12A)

Information

Genome

Assembly Position
hg19 chr3:159,713,467-159,713,467 View the variant detail on this assembly version.
hg38 chr3:159,995,680-159,995,680

HGVS

Type Transcript Protein
RefSeq NM_000882.3:c.*121G>A
Ensemble ENST00000305579.7:c.*121G>A
ENST00000466512.1:c.*121G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.102
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 161560 OMIM
HGNC 5969 HGNC
Ensembl ENSG00000168811 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv14856902 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
0.006 Mucosa-Associated Lymphoid Tissue Lymphoma After stratification by common B-cell lymphoma subtypes, a significant interacti... BeFree 20952689 Detail
0.021 chronic lymphocytic leukemia After stratification by common B-cell lymphoma subtypes, a significant interacti... BeFree 20952689 Detail
0.007 Lymphoma, Follicular After stratification by common B-cell lymphoma subtypes, a significant interacti... BeFree 20952689 Detail
<0.001 osteosarcoma The IL-12A rs568408 and IL-12B rs3212227 may confer the susceptibility to osteos... BeFree 23991654 Detail
<0.001 Osteosarcoma of bone The IL-12A rs568408 and IL-12B rs3212227 may confer the susceptibility to osteos... BeFree 23991654 Detail
<0.001 hepatitis B Our findings indicate that IL12A rs568408 may contribute to the risk of HCC and ... BeFree 20521253 Detail
0.003 liver carcinoma Our findings indicate that IL12A rs568408 may contribute to the risk of HCC and ... BeFree 20521253 Detail
Annotation

Annotations

DescrptionSourceLinks
After stratification by common B-cell lymphoma subtypes, a significant interaction was observed for ... DisGeNET Detail
After stratification by common B-cell lymphoma subtypes, a significant interaction was observed for ... DisGeNET Detail
After stratification by common B-cell lymphoma subtypes, a significant interaction was observed for ... DisGeNET Detail
The IL-12A rs568408 and IL-12B rs3212227 may confer the susceptibility to osteosarcoma risk. DisGeNET Detail
The IL-12A rs568408 and IL-12B rs3212227 may confer the susceptibility to osteosarcoma risk. DisGeNET Detail
Our findings indicate that IL12A rs568408 may contribute to the risk of HCC and modify HCC risk asso... DisGeNET Detail
Our findings indicate that IL12A rs568408 may contribute to the risk of HCC and modify HCC risk asso... 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
rs568408 dbSNP
Genome
hg38
Position
chr3:159,995,680-159,995,680
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))
rs568408
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.102
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1710
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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