rs12240995

Homo sapiens
A>C
CACNB2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0119 (3589/29978,GnomAD)
C=0130 (3792/29118,TOPMED)
C=0107 (534/5008,1000G)
C=0122 (472/3854,ALSPAC)
C=0133 (495/3708,TWINSUK)
chr10:18348303 (GRCh38.p7) (10p12.32)
ND
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.18348303A>C
GRCh37.p13 chr 10NC_000010.10:g.18637232A>C
CACNB2 RefSeqGeneNG_016195.1:g.212627A>C

Gene: CACNB2, calcium voltage-gated channel auxiliary subunit beta 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CACNB2 transcript variant 1NM_000724.3:c.N/AIntron Variant
CACNB2 transcript variant 9NM_001167945.1:c.N/AIntron Variant
CACNB2 transcript variant 6NM_201571.3:c.N/AIntron Variant
CACNB2 transcript variant 8NM_201572.3:c.N/AIntron Variant
CACNB2 transcript variant 3NM_201590.2:c.N/AIntron Variant
CACNB2 transcript variant 5NM_201593.2:c.N/AIntron Variant
CACNB2 transcript variant 2NM_201596.2:c.N/AIntron Variant
CACNB2 transcript variant 4NM_201597.2:c.N/AIntron Variant
CACNB2 transcript variant 7NM_201570.2:c.N/AGenic Upstream Transcript Variant
CACNB2 transcript variant X2XM_011519659.2:c.N/AIntron Variant
CACNB2 transcript variant X4XM_011519660.2:c.N/AIntron Variant
CACNB2 transcript variant X3XM_005252588.3:c.N/AGenic Upstream Transcript Variant
CACNB2 transcript variant X5XM_005252591.3:c.N/AGenic Upstream Transcript Variant
CACNB2 transcript variant X1XM_006717502.3:c.N/AGenic Upstream Transcript Variant
CACNB2 transcript variant X4XM_017016625.1:c.N/AGenic Upstream Transcript Variant
CACNB2 transcript variant X6XR_001747198.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.874C=0.126
1000GenomesAmericanSub694A=0.820C=0.180
1000GenomesEast AsianSub1008A=0.961C=0.039
1000GenomesEuropeSub1006A=0.878C=0.122
1000GenomesGlobalStudy-wide5008A=0.893C=0.107
1000GenomesSouth AsianSub978A=0.920C=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.878C=0.122
The Genome Aggregation DatabaseAfricanSub8718A=0.871C=0.129
The Genome Aggregation DatabaseAmericanSub838A=0.780C=0.220
The Genome Aggregation DatabaseEast AsianSub1620A=0.966C=0.034
The Genome Aggregation DatabaseEuropeSub18500A=0.880C=0.119
The Genome Aggregation DatabaseGlobalStudy-wide29978A=0.880C=0.119
The Genome Aggregation DatabaseOtherSub302A=0.930C=0.070
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.869C=0.130
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.867C=0.133
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
rs122409951.33E-05alcohol and nictotine co-dependence20158304

eQTL of rs12240995 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 rs12240995 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 )
chr101859236718592507E068-44725
chr101859298318593043E068-44189
chr101862132318621721E068-15511
chr101862220818622331E068-14901
chr101864038618641793E0683154
chr101868337618683426E06846144
chr101868351318683567E06846281
chr101868384318683900E06846611
chr101859508718595216E069-42016
chr101863937318639454E0702141
chr101863945718639914E0702225
chr101863937318639454E0722141
chr101863945718639914E0722225
chr101859728618597399E081-39833
chr101859817418598281E081-38951
chr101859828418598342E081-38890
chr101862879318628843E081-8389
chr101862891918629064E081-8168
chr101863923618639295E0822004
chr101863937318639454E0822141
chr101863945718639914E0822225
chr101864006118640164E0822829
chr101864024318640314E0823011






Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr101862933118630268E067-6964
chr101862933118630268E068-6964
chr101862933118630268E069-6964
chr101863028918630474E069-6758
chr101862933118630268E071-6964
chr101862933118630268E072-6964
chr101863028918630474E072-6758
chr101862933118630268E073-6964
chr101863028918630474E073-6758
chr101862933118630268E082-6964