rs6810058

Homo sapiens
G>T
CACNA2D3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0228 (6839/29948,GnomAD)
T=0216 (6296/29118,TOPMED)
T=0151 (757/5008,1000G)
T=0325 (1253/3854,ALSPAC)
T=0312 (1157/3708,TWINSUK)
chr3:54857572 (GRCh38.p7) (3p14.3)
AD
GWASdb2
1   publication(s)
See rs on genome
71 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.54857572G>T
GRCh37.p13 chr 3NC_000003.11:g.54891599G>T

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 X9XM_011533948.2:c.N/AIntron Variant
CACNA2D3 transcript variant X12XM_011533949.2:c.N/AIntron Variant
CACNA2D3 transcript variant X15XM_011533950.2:c.N/AIntron Variant
CACNA2D3 transcript variant X18XM_011533951.2:c.N/AIntron Variant
CACNA2D3 transcript variant X19XM_011533952.2:c.N/AIntron Variant
CACNA2D3 transcript variant X20XM_011533953.2: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 X11XM_017006852.1: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 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
1000GenomesAfricanSub1322G=0.892T=0.108
1000GenomesAmericanSub694G=0.850T=0.150
1000GenomesEast AsianSub1008G=0.964T=0.036
1000GenomesEuropeSub1006G=0.722T=0.278
1000GenomesGlobalStudy-wide5008G=0.849T=0.151
1000GenomesSouth AsianSub978G=0.800T=0.200
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.675T=0.325
The Genome Aggregation DatabaseAfricanSub8722G=0.879T=0.121
The Genome Aggregation DatabaseAmericanSub838G=0.840T=0.160
The Genome Aggregation DatabaseEast AsianSub1620G=0.971T=0.029
The Genome Aggregation DatabaseEuropeSub18466G=0.700T=0.299
The Genome Aggregation DatabaseGlobalStudy-wide29948G=0.771T=0.228
The Genome Aggregation DatabaseOtherSub302G=0.750T=0.250
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.783T=0.216
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.688T=0.312
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs68100580.00064alcohol dependence20201924

eQTL of rs6810058 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 rs6810058 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 )
chr35485633054856492E067-35107
chr35493282154932885E06741222
chr35493292654932976E06741327
chr35493605054936191E06744451
chr35493640954936599E06744810
chr35485531454855490E068-36109
chr35485633054856492E068-35107
chr35486143554861696E068-29903
chr35488786754888377E068-3222
chr35488846254888512E068-3087
chr35489415954894213E0682560
chr35492502554926143E06833426
chr35492619754926269E06834598
chr35492633654926411E06834737
chr35485633054856492E069-35107
chr35490440454904972E06912805
chr35492619754926269E06934598
chr35488014154880485E070-11114
chr35488464154884728E070-6871
chr35488478354884929E070-6670
chr35488846254888512E070-3087
chr35488862954888686E070-2913
chr35489012654890222E070-1377
chr35489036954890409E070-1190
chr35489044954890546E070-1053
chr35489115854891246E070-353
chr35489136454891873E0700
chr35489222354893151E070624
chr35489329454893545E0701695
chr35489415954894213E0702560
chr35489536754895815E0703768
chr35490042454900571E0708825
chr35490070554900755E0709106
chr35493640954936599E07044810
chr35485531454855490E071-36109
chr35485633054856492E071-35107
chr35488786754888377E071-3222
chr35488846254888512E071-3087
chr35492502554926143E07133426
chr35492619754926269E07134598
chr35493640954936599E07144810
chr35485531454855490E072-36109
chr35488786754888377E072-3222
chr35488846254888512E072-3087
chr35490440454904972E07212805
chr35492502554926143E07233426
chr35492619754926269E07234598
chr35485531454855490E073-36109
chr35485633054856492E073-35107
chr35488786754888377E073-3222
chr35488786754888377E074-3222
chr35488846254888512E074-3087
chr35492502554926143E07433426
chr35484451654844803E081-46796
chr35484499654845046E081-46553
chr35487930454879344E081-12255
chr35487971354879767E081-11832
chr35488014154880485E081-11114
chr35488786754888377E081-3222
chr35489136454891873E0810
chr35489222354893151E081624
chr35489415954894213E0812560
chr35489644154896530E0814842
chr35493581654935924E08144217
chr35493605054936191E08144451
chr35493640954936599E08144810
chr35487930454879344E082-12255
chr35489036954890409E082-1190
chr35489044954890546E082-1053
chr35489115854891246E082-353
chr35489136454891873E0820