rs3773586

Homo sapiens
C>A
CACNA2D3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0476 (14256/29920,GnomAD)
A=0454 (13220/29118,TOPMED)
C==0494 (2476/5008,1000G)
A=0470 (1812/3854,ALSPAC)
C==0495 (1834/3708,TWINSUK)
chr3:54974719 (GRCh38.p7) (3p14.3)
ND
GWASdb2
1   publication(s)
See rs on genome
92 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.54974719C>A
GRCh37.p13 chr 3NC_000003.11:g.55008746C>A

Gene: CACNA2D3, calcium voltage-gated channel auxiliary subunit alpha2delta 3(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CACNA2D3 transcriptNM_018398.2:c.N/AIntron Variant
CACNA2D3 transcript variant X1XM_005265318.2:c.N/AIntron Variant
CACNA2D3 transcript variant X4XM_011533946.2:c.N/AIntron Variant
CACNA2D3 transcript variant X6XM_011533947.2:c.N/AIntron Variant
CACNA2D3 transcript variant X21XM_011533954.2:c.N/AIntron Variant
CACNA2D3 transcript variant X23XM_011533955.1:c.N/AIntron Variant
CACNA2D3 transcript variant X2XM_017006850.1:c.N/AIntron Variant
CACNA2D3 transcript variant X7XM_017006851.1:c.N/AIntron Variant
CACNA2D3 transcript variant X13XM_017006853.1:c.N/AIntron Variant
CACNA2D3 transcript variant X14XM_017006854.1:c.N/AIntron Variant
CACNA2D3 transcript variant X9XM_011533948.2:c.N/AGenic Downstream Transcript Variant
CACNA2D3 transcript variant X12XM_011533949.2:c.N/AGenic Downstream Transcript Variant
CACNA2D3 transcript variant X15XM_011533950.2:c.N/AGenic Downstream Transcript Variant
CACNA2D3 transcript variant X18XM_011533951.2:c.N/AGenic Downstream Transcript Variant
CACNA2D3 transcript variant X19XM_011533952.2:c.N/AGenic Downstream Transcript Variant
CACNA2D3 transcript variant X20XM_011533953.2:c.N/AGenic Downstream Transcript Variant
CACNA2D3 transcript variant X11XM_017006852.1:c.N/AGenic Downstream Transcript Variant
CACNA2D3 transcript variant X16XR_001740203.1:n.N/AIntron Variant
CACNA2D3 transcript variant X17XR_001740204.1:n.N/AIntron Variant
CACNA2D3 transcript variant X22XR_001740205.1:n.N/AIntron Variant
CACNA2D3 transcript variant X5XR_427281.2:n.N/AIntron Variant
CACNA2D3 transcript variant X3XR_940472.2:n.N/AIntron Variant
CACNA2D3 transcript variant X9XR_940473.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.642A=0.358
1000GenomesAmericanSub694C=0.460A=0.540
1000GenomesEast AsianSub1008C=0.438A=0.562
1000GenomesEuropeSub1006C=0.480A=0.520
1000GenomesGlobalStudy-wide5008C=0.494A=0.506
1000GenomesSouth AsianSub978C=0.390A=0.610
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.530A=0.470
The Genome Aggregation DatabaseAfricanSub8712C=0.620A=0.380
The Genome Aggregation DatabaseAmericanSub836C=0.430A=0.570
The Genome Aggregation DatabaseEast AsianSub1614C=0.467A=0.533
The Genome Aggregation DatabaseEuropeSub18456C=0.488A=0.511
The Genome Aggregation DatabaseGlobalStudy-wide29920C=0.523A=0.476
The Genome Aggregation DatabaseOtherSub302C=0.450A=0.550
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.546A=0.454
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.495A=0.505
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
rs37735860.000538nicotine smoking19268276

eQTL of rs3773586 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 rs3773586 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 )
chr35496538754965509E067-43237
chr35496662654966919E067-41827
chr35496538754965509E068-43237
chr35496662654966919E068-41827
chr35497075754970839E068-37907
chr35497383754973924E068-34822
chr35497408554974246E068-34500
chr35502245755022507E06813711
chr35503545355035599E06826707
chr35496538754965509E069-43237
chr35496662654966919E069-41827
chr35497075754970839E069-37907
chr35498426554984327E069-24419
chr35498433054984887E069-23859
chr35498508954985139E069-23607
chr35498526554985489E069-23257
chr35502188855022059E06913142
chr35502214555022196E06913399
chr35502221855022351E06913472
chr35502245755022507E06913711
chr35502267855023283E06913932
chr35504345255043520E06934706
chr35504358555043845E06934839
chr35505237655052503E06943630
chr35505250855052562E06943762
chr35496538754965509E070-43237
chr35498426554984327E070-24419
chr35498433054984887E070-23859
chr35498508954985139E070-23607
chr35498526554985489E070-23257
chr35498549654985798E070-22948
chr35498610154986207E070-22539
chr35503313955033642E07024393
chr35503375055033800E07025004
chr35503381655034225E07025070
chr35503428755034460E07025541
chr35503463355035253E07025887
chr35504028755040420E07031541
chr35504055155040670E07031805
chr35504729555047419E07038549
chr35504751555047597E07038769
chr35504768755047824E07038941
chr35504825555048373E07039509
chr35504894055049342E07040194
chr35505032055050370E07041574
chr35505045455050504E07041708
chr35505192355052203E07043177
chr35496538754965509E071-43237
chr35496662654966919E071-41827
chr35497075754970839E071-37907
chr35502188855022059E07113142
chr35502214555022196E07113399
chr35502221855022351E07113472
chr35502245755022507E07113711
chr35504345255043520E07134706
chr35504729555047419E07138549
chr35504751555047597E07138769
chr35496092254961002E072-47744
chr35496100654961072E072-47674
chr35496538754965509E072-43237
chr35496662654966919E072-41827
chr35496538754965509E073-43237
chr35496662654966919E073-41827
chr35502032155020584E07311575
chr35502188855022059E07313142
chr35502214555022196E07313399
chr35502221855022351E07313472
chr35502245755022507E07313711
chr35503381655034225E07325070
chr35503428755034460E07325541
chr35504729555047419E07338549
chr35496092254961002E074-47744
chr35496100654961072E074-47674
chr35496538754965509E074-43237
chr35496662654966919E074-41827
chr35504345255043520E07434706
chr35498353054983776E081-24970
chr35498384054983904E081-24842
chr35498426554984327E081-24419
chr35498433054984887E081-23859
chr35503381655034225E08125070
chr35503428755034460E08125541
chr35504729555047419E08138549
chr35504751555047597E08138769
chr35504768755047824E08138941
chr35498433054984887E082-23859
chr35498508954985139E082-23607
chr35498526554985489E082-23257
chr35498549654985798E082-22948
chr35504729555047419E08238549
chr35504751555047597E08238769
chr35504768755047824E08238941