rs6445588

Homo sapiens
C>T
CACNA1D : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0209 (6274/29924,GnomAD)
T=0238 (6929/29118,TOPMED)
T=0264 (1324/5008,1000G)
T=0138 (532/3854,ALSPAC)
T=0129 (478/3708,TWINSUK)
chr3:53596652 (GRCh38.p7) (3p21.1)
ND
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.53596652C>T
GRCh37.p13 chr 3NC_000003.11:g.53630679C>T
CACNA1D RefSeqGeneNG_032999.1:g.106604C>T

Gene: CACNA1D, calcium voltage-gated channel subunit alpha1 D(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CACNA1D transcript variant 1NM_000720.3:c.N/AIntron Variant
CACNA1D transcript variant 3NM_001128839.2:c.N/AIntron Variant
CACNA1D transcript variant 2NM_001128840.2:c.N/AIntron Variant
CACNA1D transcript variant X12XM_005265448.3:c.N/AIntron Variant
CACNA1D transcript variant X2XM_011534094.2:c.N/AIntron Variant
CACNA1D transcript variant X11XM_011534096.2:c.N/AIntron Variant
CACNA1D transcript variant X13XM_011534097.2:c.N/AIntron Variant
CACNA1D transcript variant X15XM_011534100.2:c.N/AIntron Variant
CACNA1D transcript variant X1XM_017007137.1:c.N/AIntron Variant
CACNA1D transcript variant X3XM_017007138.1:c.N/AIntron Variant
CACNA1D transcript variant X4XM_017007139.1:c.N/AIntron Variant
CACNA1D transcript variant X5XM_017007140.1:c.N/AIntron Variant
CACNA1D transcript variant X6XM_017007141.1:c.N/AIntron Variant
CACNA1D transcript variant X7XM_017007142.1:c.N/AIntron Variant
CACNA1D transcript variant X8XM_017007143.1:c.N/AIntron Variant
CACNA1D transcript variant X9XM_017007144.1:c.N/AIntron Variant
CACNA1D transcript variant X10XM_017007145.1:c.N/AIntron Variant
CACNA1D transcript variant X14XM_011534099.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.613T=0.387
1000GenomesAmericanSub694C=0.800T=0.200
1000GenomesEast AsianSub1008C=0.723T=0.277
1000GenomesEuropeSub1006C=0.864T=0.136
1000GenomesGlobalStudy-wide5008C=0.736T=0.264
1000GenomesSouth AsianSub978C=0.740T=0.260
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.862T=0.138
The Genome Aggregation DatabaseAfricanSub8692C=0.635T=0.365
The Genome Aggregation DatabaseAmericanSub834C=0.740T=0.260
The Genome Aggregation DatabaseEast AsianSub1614C=0.741T=0.259
The Genome Aggregation DatabaseEuropeSub18482C=0.868T=0.131
The Genome Aggregation DatabaseGlobalStudy-wide29924C=0.790T=0.209
The Genome Aggregation DatabaseOtherSub302C=0.900T=0.100
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.762T=0.238
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.871T=0.129
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs64455880.000326Nicotine dependence (smoking)19268276
rs64455880.000881Nicotine initiation (smoking)19268276

eQTL of rs6445588 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 rs6445588 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 )
chr35365171553651802E06721036
chr35358417953584278E068-46401
chr35358438953584632E068-46047
chr35358339453583509E070-47170
chr35365032853650855E07019649
chr35365803253658095E07027353
chr35365997853660120E07029299
chr35366267353662830E07031994
chr35366306053663145E07032381
chr35366330053663433E07032621
chr35366346753663552E07032788
chr35361921353619373E071-11306
chr35361956653619790E071-10889
chr35364969353649933E07119014
chr35365171553651802E07121036
chr35365228653652368E07121607
chr35358417953584278E072-46401
chr35365032853650855E07219649
chr35365228653652368E07221607
chr35358417953584278E073-46401
chr35358438953584632E073-46047
chr35358417953584278E074-46401
chr35358438953584632E074-46047
chr35361921353619373E074-11306
chr35358720753587339E081-43340
chr35358736753587445E081-43234
chr35365013753650187E08119458
chr35365032853650855E08119649
chr35366267353662830E08131994
chr35366306053663145E08132381
chr35366330053663433E08132621
chr35366346753663552E08132788
chr35358720753587339E082-43340
chr35358736753587445E082-43234
chr35358763453587752E082-42927