rs1433048

Homo sapiens
G>A
IL12B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0138 (4137/29948,GnomAD)
G==0106 (3100/29118,TOPMED)
G==0079 (398/5008,1000G)
G==0193 (745/3854,ALSPAC)
G==0185 (687/3708,TWINSUK)
chr5:159328837 (GRCh38.p7) (5q33.3)
AD
GWASdb2
6   publication(s)
See rs on genome
13 Enhancers around
11 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.159328837G>A
GRCh37.p13 chr 5NC_000005.9:g.158755845G>A
IL12B RefSeqGene LRG_71

Gene: IL12B, interleukin 12B(minus strand)

Molecule type Change Amino acid[Codon] SO Term
IL12B transcriptNM_002187.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.018A=0.982
1000GenomesAmericanSub694G=0.080A=0.920
1000GenomesEast AsianSub1008G=0.002A=0.998
1000GenomesEuropeSub1006G=0.186A=0.814
1000GenomesGlobalStudy-wide5008G=0.079A=0.921
1000GenomesSouth AsianSub978G=0.130A=0.870
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.193A=0.807
The Genome Aggregation DatabaseAfricanSub8714G=0.045A=0.955
The Genome Aggregation DatabaseAmericanSub838G=0.090A=0.910
The Genome Aggregation DatabaseEast AsianSub1622G=0.002A=0.998
The Genome Aggregation DatabaseEuropeSub18472G=0.196A=0.803
The Genome Aggregation DatabaseGlobalStudy-wide29948G=0.138A=0.861
The Genome Aggregation DatabaseOtherSub302G=0.140A=0.860
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.106A=0.893
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.185A=0.815
PMID Title Author Journal
19956101Overview of the Rapid Response data.Brown WMGenes Immun
19956104Evaluation of IL12B as a candidate type I diabetes susceptibility gene using data from the Type I Diabetes Genetics Consortium.Morahan GGenes Immun
21703634A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.Wang KSJ Psychiatr Res
17236132A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes.Cargill MAm J Hum Genet
21152001Association of variants at 1q32 and STAT3 with ankylosing spondylitis suggests genetic overlap with Crohn's disease.Danoy PPLoS Genet
16600026Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.Wjst MRespir Res

P-Value

SNP ID p-value Traits Study
rs14330482.41E-05alcohol dependence21703634

eQTL of rs1433048 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs1433048 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr5158736863158736932E068-18913
chr5158737031158737092E068-18753
chr5158737212158737355E068-18490
chr5158736863158736932E069-18913
chr5158737031158737092E069-18753
chr5158737212158737355E069-18490
chr5158737031158737092E071-18753
chr5158737212158737355E071-18490
chr5158736863158736932E072-18913
chr5158736863158736932E074-18913
chr5158737031158737092E074-18753
chr5158737212158737355E074-18490
chr5158741035158741115E082-14730






Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5158737387158737983E067-17862
chr5158758131158759244E0672286
chr5158737387158737983E068-17862
chr5158758131158759244E0682286
chr5158758131158759244E0692286
chr5158758131158759244E0702286
chr5158758131158759244E0712286
chr5158758131158759244E0722286
chr5158758131158759244E0732286
chr5158737387158737983E082-17862
chr5158758131158759244E0822286