rs6474412

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0349 (10449/29888,GnomAD)
C==0424 (12367/29118,TOPMED)
C==0370 (1854/5008,1000G)
C==0224 (862/3854,ALSPAC)
C==0232 (861/3708,TWINSUK)
chr8:42695355 (GRCh38.p7) (8p11.21)
ND
GWASdb2
20   publication(s)
See rs on genome
28 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.42695355C>T
GRCh37.p13 chr 8NC_000008.10:g.42550498C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.714T=0.286
1000GenomesAmericanSub694C=0.300T=0.700
1000GenomesEast AsianSub1008C=0.206T=0.794
1000GenomesEuropeSub1006C=0.224T=0.776
1000GenomesGlobalStudy-wide5008C=0.370T=0.630
1000GenomesSouth AsianSub978C=0.270T=0.730
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.224T=0.776
The Genome Aggregation DatabaseAfricanSub8692C=0.654T=0.346
The Genome Aggregation DatabaseAmericanSub836C=0.250T=0.750
The Genome Aggregation DatabaseEast AsianSub1620C=0.185T=0.815
The Genome Aggregation DatabaseEuropeSub18438C=0.226T=0.773
The Genome Aggregation DatabaseGlobalStudy-wide29888C=0.349T=0.650
The Genome Aggregation DatabaseOtherSub302C=0.260T=0.740
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.424T=0.575
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.232T=0.768
PMID Title Author Journal
22102629Dissection of the phenotypic and genotypic associations with nicotinic dependence.Chen LSNicotine Tob Res
26948517Genetic scores of smoking behaviour in a Chinese population.Yang SSci Rep
20418888Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior.Thorgeirsson TENat Genet
23943838Effect of neuronal nicotinic acetylcholine receptor genes (CHRN) on longitudinal cigarettes per day in adolescents and young adults.Cannon DSNicotine Tob Res
19760673Association of CHRN genes with "dizziness" to tobacco.Ehringer MAAm J Med Genet B Neuropsychiatr Genet
20584212Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans.Saccone NLGenes Brain Behav
27166759Converging findings from linkage and association analyses on susceptibility genes for smoking and other addictions.Yang JMol Psychiatry
27335628A prospective and retrospective analysis of smoking behavior changes in ever smokers with high risk for lung cancer from New Mexico and Pennsylvania.Leng SInt J Mol Epidemiol Genet
18704094Genetic association of the CHRNA6 and CHRNB3 genes with tobacco dependence in a nationally representative sample.Hoft NRNeuropsychopharmacology
22806211The genetics of addiction-a translational perspective.Agrawal ATransl Psychiatry
24792900Combined effect between CHRNB3-CHRNA6 region gene variant (rs6474412) and smoking in psoriasis vulgaris severity.Zhu KJGene
27827986Replicated Risk Nicotinic Cholinergic Receptor Genes for Nicotine Dependence.Zuo LGenes (Basel)
20736995Resequencing of nicotinic acetylcholine receptor genes and association of common and rare variants with the Fagerstrom test for nicotine dependence.Wessel JNeuropsychopharmacology
26695521Mendelian Randomization - the Key to Understanding Aspects of Parkinson's Disease Causation?Noyce AJMov Disord
21191315Genetic association of bipolar disorder with the beta(3) nicotinic receptor subunit gene.Hartz SMPsychiatr Genet
28069549SNPs within CHRNA5-A3-B4 and CYP2A6/B6 are associated with smoking dependence but not with tobacco dependence treatment outcomes in the Czech population.Hubacek JAGene
27327258Crucial roles of the CHRNB3-CHRNA6 gene cluster on chromosome 8 in nicotine dependence: update and subjects for future research.Wen LTransl Psychiatry
21338875Genetic vulnerability and susceptibility to substance dependence.Bierut LJNeuron
17158188Novel genes identified in a high-density genome wide association study for nicotine dependence.Bierut LJHum Mol Genet
27050379Genetic variants of CHRNA5-A3 and CHRNB3-A6 predict survival of patients with advanced non-small cell lung cancer.Wang YOncotarget

P-Value

SNP ID p-value Traits Study
rs64744120.0002nicotine dependence17158188

eQTL of rs6474412 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 rs6474412 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 )
chr84255878642559348E0678288
chr84255950742559557E0679009
chr84255956442559738E0679066
chr84255978342560036E0679285
chr84257551642576584E06925018
chr84255878642559348E0718288
chr84255950742559557E0719009
chr84255956442559738E0719066
chr84257551642576584E07125018
chr84259581842596743E07145320
chr84259678542596841E07146287
chr84254736742548251E072-2247
chr84257551642576584E07225018
chr84259581842596743E07245320
chr84257551642576584E07325018
chr84255878642559348E0748288
chr84255950742559557E0749009
chr84255956442559738E0749066
chr84255978342560036E0749285
chr84256031142560370E0749813
chr84257551642576584E07425018
chr84259678542596841E07446287
chr84259699542597311E07446497
chr84251152842512118E081-38380
chr84256031142560370E0819813
chr84256054542560595E08110047
chr84256060442560725E08110106
chr84259699542597311E08146497