rs1992405

Homo sapiens
T>C / T>G
CNGB3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0362 (10849/29916,GnomAD)
T==0399 (11629/29118,TOPMED)
T==0436 (2182/5008,1000G)
T==0214 (824/3854,ALSPAC)
T==0205 (761/3708,TWINSUK)
chr8:86592903 (GRCh38.p7) (8q21.3)
ND
GWASdb2
1   publication(s)
See rs on genome
31 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.86592903T>C
GRCh38.p7 chr 8NC_000008.11:g.86592903T>G
GRCh37.p13 chr 8NC_000008.10:g.87605131T>C
GRCh37.p13 chr 8NC_000008.10:g.87605131T>G
CNGB3 RefSeqGeneNG_016980.1:g.155773A>G
CNGB3 RefSeqGeneNG_016980.1:g.155773A>C

Gene: CNGB3, cyclic nucleotide gated channel beta 3(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CNGB3 transcriptNM_019098.4:c.N/AIntron Variant
CNGB3 transcript variant X1XM_011517138.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.718C=0.282
1000GenomesAmericanSub694T=0.230C=0.77,
1000GenomesEast AsianSub1008T=0.491C=0.502
1000GenomesEuropeSub1006T=0.238C=0.762
1000GenomesGlobalStudy-wide5008T=0.436C=0.563
1000GenomesSouth AsianSub978T=0.350C=0.65,
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.214C=0.786
The Genome Aggregation DatabaseAfricanSub8702T=0.628C=0.372
The Genome Aggregation DatabaseAmericanSub836T=0.240C=0.76,
The Genome Aggregation DatabaseEast AsianSub1612T=0.482C=0.511
The Genome Aggregation DatabaseEuropeSub18466T=0.235C=0.764
The Genome Aggregation DatabaseGlobalStudy-wide29916T=0.362C=0.637
The Genome Aggregation DatabaseOtherSub300T=0.220C=0.78,
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.399C=0.600
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.205C=0.795
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs19924058.47E-05alcohol and nictotine co-dependence20158304

eQTL of rs1992405 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 rs1992405 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 )
chr82143345221433674E070-13215
chr82141449321415248E071-31641
chr82141449321415248E072-31641
chr82141145521411505E074-35384
chr82141162221411767E074-35122
chr82142264421422699E074-24190
chr82148429921484413E07437410
chr82148472621484812E07437837
chr82148492121484994E07438032
chr82144140121441756E081-5133
chr82144244121442532E081-4357
chr82144724121447598E081352
chr82144776221447876E081873
chr82144826521448315E0811376
chr82146867621468830E08121787
chr82146893521468993E08122046
chr82146913221469212E08122243
chr82146946721469989E08122578
chr82149349421493552E08146605
chr82149379221493854E08146903
chr82149396321494050E08147074
chr82149424221494283E08147353
chr82149442921494479E08147540
chr82149477821494889E08147889
chr82149495621495006E08148067
chr82149505221495523E08148163
chr82144724121447598E082352
chr82144776221447876E082873
chr82147064221470709E08223753
chr82147077021470820E08223881
chr82148134521481512E08234456