chr5:159315942:T>G Detail (hg38) (IL12B)

Information

Genome

Assembly Position
hg19 chr5:158,742,950-158,742,950 View the variant detail on this assembly version.
hg38 chr5:159,315,942-159,315,942

HGVS

Type Transcript Protein
RefSeq NM_002187.2:c.*159A>C
Ensemble ENST00000231228.3:c.*159A>C
ENST00000696750.1:c.*159A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.549
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
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 tgv23457959 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-03-06 criteria provided, single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Esophageal Neoplasms We conducted a hospital based case-control study to evaluate the genetic effects... BeFree 23886125 Detail
0.005 Esophageal Neoplasms We conducted a hospital based case-control study to evaluate the genetic effects... BeFree 23886125 Detail
<0.001 esophageal carcinoma We conducted a hospital based case-control study to evaluate the genetic effects... BeFree 23886125 Detail
0.008 Malignant neoplasm of esophagus We conducted a hospital based case-control study to evaluate the genetic effects... BeFree 23886125 Detail
0.002 Psoriasis vulgaris For both PA and PV, we detected the strongest association with two IL12B single-... BeFree 18800148 Detail
0.135 Arthritis, Psoriatic Meta-analysis of IL12B polymorphisms (rs3212227, rs6887695) with psoriasis and p... BeFree 23297015 Detail
0.135 Arthritis, Psoriatic For both PA and PV, we detected the strongest association with two IL12B single-... BeFree 18800148 Detail
<0.001 measles Our study replicated an important previously found association of a functional I... BeFree 21875636 Detail
<0.001 Malignant neoplasm of esophagus IL-12B gene rs3212227 CC/AC and IL-12Rβ1 gene 378 GG/GC genotypes, which associa... BeFree 22740240 Detail
<0.001 osteosarcoma The IL-12A rs568408 and IL-12B rs3212227 may confer the susceptibility to osteos... BeFree 23991654 Detail
<0.001 esophageal carcinoma IL-12B gene rs3212227 CC/AC and IL-12Rβ1 gene 378 GG/GC genotypes, which associa... BeFree 22740240 Detail
<0.001 Chronic small plaque psoriasis Various single-nucleotide polymorphisms (SNP) have been identified in the IL12B ... BeFree 25447399 Detail
0.008 Malignant neoplasm of esophagus IL-12B gene rs3212227 CC/AC and IL-12Rβ1 gene 378 GG/GC genotypes, which associa... BeFree 22740240 Detail
0.003 adenocarcinoma Interleukin 12B rs3212227 T &gt; G polymorphism was associated with an increased... BeFree 24529168 Detail
0.154 asthma These results suggest that the SNPs in IL-12A rs568404 and IL-12B rs3212227 may ... BeFree 21513752 Detail
<0.001 Esophageal Neoplasms IL-12B gene rs3212227 CC/AC and IL-12Rβ1 gene 378 GG/GC genotypes, which associa... BeFree 22740240 Detail
<0.001 Osteosarcoma of bone The IL-12A rs568408 and IL-12B rs3212227 may confer the susceptibility to osteos... BeFree 23991654 Detail
0.303 psoriasis Meta-analysis of IL12B polymorphisms (rs3212227, rs6887695) with psoriasis and p... BeFree 23297015 Detail
0.005 Esophageal Neoplasms IL-12B gene rs3212227 CC/AC and IL-12Rβ1 gene 378 GG/GC genotypes, which associa... BeFree 22740240 Detail
<0.001 esophageal carcinoma IL-12B gene rs3212227 CC/AC and IL-12Rβ1 gene 378 GG/GC genotypes, which associa... BeFree 22740240 Detail
0.311 psoriasis This study aims to assess whether the association between the non-susceptibility... BeFree 24140476 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002187.3(IL12B):c.*159A>C AND Mendelian susceptibility to mycobacterial diseases due to complete ... ClinVar Detail
We conducted a hospital based case-control study to evaluate the genetic effects of functional singl... DisGeNET Detail
We conducted a hospital based case-control study to evaluate the genetic effects of functional singl... DisGeNET Detail
We conducted a hospital based case-control study to evaluate the genetic effects of functional singl... DisGeNET Detail
We conducted a hospital based case-control study to evaluate the genetic effects of functional singl... DisGeNET Detail
For both PA and PV, we detected the strongest association with two IL12B single-nucleotide polymorph... DisGeNET Detail
Meta-analysis of IL12B polymorphisms (rs3212227, rs6887695) with psoriasis and psoriatic arthritis. DisGeNET Detail
For both PA and PV, we detected the strongest association with two IL12B single-nucleotide polymorph... DisGeNET Detail
Our study replicated an important previously found association of a functional IL12B genetic variant... DisGeNET Detail
IL-12B gene rs3212227 CC/AC and IL-12Rβ1 gene 378 GG/GC genotypes, which associated with decreased I... DisGeNET Detail
The IL-12A rs568408 and IL-12B rs3212227 may confer the susceptibility to osteosarcoma risk. DisGeNET Detail
IL-12B gene rs3212227 CC/AC and IL-12Rβ1 gene 378 GG/GC genotypes, which associated with decreased I... DisGeNET Detail
Various single-nucleotide polymorphisms (SNP) have been identified in the IL12B gene, such as SNP 3'... DisGeNET Detail
IL-12B gene rs3212227 CC/AC and IL-12Rβ1 gene 378 GG/GC genotypes, which associated with decreased I... DisGeNET Detail
Interleukin 12B rs3212227 T &gt; G polymorphism was associated with an increased risk of gastric car... DisGeNET Detail
These results suggest that the SNPs in IL-12A rs568404 and IL-12B rs3212227 may individually and joi... DisGeNET Detail
IL-12B gene rs3212227 CC/AC and IL-12Rβ1 gene 378 GG/GC genotypes, which associated with decreased I... DisGeNET Detail
The IL-12A rs568408 and IL-12B rs3212227 may confer the susceptibility to osteosarcoma risk. DisGeNET Detail
Meta-analysis of IL12B polymorphisms (rs3212227, rs6887695) with psoriasis and psoriatic arthritis. DisGeNET Detail
IL-12B gene rs3212227 CC/AC and IL-12Rβ1 gene 378 GG/GC genotypes, which associated with decreased I... DisGeNET Detail
IL-12B gene rs3212227 CC/AC and IL-12Rβ1 gene 378 GG/GC genotypes, which associated with decreased I... DisGeNET Detail
This study aims to assess whether the association between the non-susceptibility allelic variants of... 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
rs3212227 dbSNP
Genome
hg38
Position
chr5:159,315,942-159,315,942
Variant Type
snv
Reference Allele
T
Alternative Allele
G
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))
rs3212227
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5487
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9196
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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