rs6942458

Homo sapiens
A>G
CACNA2D1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0287 (8585/29824,GnomAD)
G=0307 (8957/29118,TOPMED)
G=0290 (1452/5008,1000G)
G=0212 (818/3854,ALSPAC)
G=0217 (803/3708,TWINSUK)
chr7:82153198 (GRCh38.p7) (7q21.11)
ND
GWASdb2
1   publication(s)
See rs on genome
95 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.82153198A>G
GRCh37.p13 chr 7NC_000007.13:g.81782514A>G
CACNA2D1 RefSeqGene LRG_437

Gene: CACNA2D1, calcium voltage-gated channel auxiliary subunit alpha2delta 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CACNA2D1 transcript variant 1NM_000722.3:c.N/AIntron Variant
CACNA2D1 transcript variant 2NM_001302890.1:c.N/AIntron Variant
CACNA2D1 transcript variant X4XM_005250570.2:c.N/AIntron Variant
CACNA2D1 transcript variant X6XM_005250572.2:c.N/AIntron Variant
CACNA2D1 transcript variant X8XM_005250573.2:c.N/AIntron Variant
CACNA2D1 transcript variant X9XM_005250574.2:c.N/AIntron Variant
CACNA2D1 transcript variant X1XM_006716118.2:c.N/AIntron Variant
CACNA2D1 transcript variant X7XM_006716119.3:c.N/AIntron Variant
CACNA2D1 transcript variant X10XM_006716120.3:c.N/AIntron Variant
CACNA2D1 transcript variant X2XM_011516570.2:c.N/AIntron Variant
CACNA2D1 transcript variant X3XM_011516571.2:c.N/AIntron Variant
CACNA2D1 transcript variant X5XM_011516572.2:c.N/AIntron Variant
CACNA2D1 transcript variant X11XM_017012588.1:c.N/AIntron Variant
CACNA2D1 transcript variant X14XM_006716121.3:c.N/AGenic Upstream Transcript Variant
CACNA2D1 transcript variant X12XR_001744873.1:n.N/AIntron Variant
CACNA2D1 transcript variant X13XR_001744874.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.515G=0.485
1000GenomesAmericanSub694A=0.800G=0.200
1000GenomesEast AsianSub1008A=0.842G=0.158
1000GenomesEuropeSub1006A=0.772G=0.228
1000GenomesGlobalStudy-wide5008A=0.710G=0.290
1000GenomesSouth AsianSub978A=0.710G=0.290
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.788G=0.212
The Genome Aggregation DatabaseAfricanSub8674A=0.565G=0.435
The Genome Aggregation DatabaseAmericanSub830A=0.790G=0.210
The Genome Aggregation DatabaseEast AsianSub1598A=0.844G=0.156
The Genome Aggregation DatabaseEuropeSub18420A=0.765G=0.234
The Genome Aggregation DatabaseGlobalStudy-wide29824A=0.712G=0.287
The Genome Aggregation DatabaseOtherSub302A=0.780G=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.692G=0.307
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.783G=0.217
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
rs69424580.000613nicotine smoking19268276

eQTL of rs6942458 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 rs6942458 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 )
chr78178632081786500E0673806
chr78179379181793835E06711277
chr78180234681802469E06719832
chr78180247581802557E06719961
chr78182173081821790E06739216
chr78182202581822069E06739511
chr78182265481822752E06740140
chr78182331681823739E06740802
chr78182376581823818E06741251
chr78179306781793164E06810553
chr78180234681802469E06819832
chr78180247581802557E06819961
chr78178094881781061E069-1453
chr78179379181793835E06911277
chr78179386681793920E06911352
chr78179393381794045E06911419
chr78179418781794626E06911673
chr78179532981795421E06912815
chr78179564181796319E06913127
chr78179684381797389E06914329
chr78177927981779451E070-3063
chr78177963981779683E070-2831
chr78177995381780045E070-2469
chr78179393381794045E07011419
chr78179418781794626E07011673
chr78179485781794911E07012343
chr78179532981795421E07012815
chr78179564181796319E07013127
chr78177927981779451E071-3063
chr78177963981779683E071-2831
chr78177995381780045E071-2469
chr78178030581780443E071-2071
chr78179306781793164E07110553
chr78179393381794045E07111419
chr78179418781794626E07111673
chr78179485781794911E07112343
chr78179532981795421E07112815
chr78179564181796319E07113127
chr78179684381797389E07114329
chr78180234681802469E07119832
chr78180247581802557E07119961
chr78182173081821790E07139216
chr78182202581822069E07139511
chr78182331681823739E07140802
chr78182376581823818E07141251
chr78182415881824216E07141644
chr78182422981824279E07141715
chr78182428081824342E07141766
chr78182504581825335E07142531
chr78182555181825621E07143037
chr78182570581825745E07143191
chr78182744481827494E07144930
chr78179306781793164E07210553
chr78179379181793835E07211277
chr78179386681793920E07211352
chr78179393381794045E07211419
chr78179418781794626E07211673
chr78179564181796319E07213127
chr78179684381797389E07214329
chr78182555181825621E07343037
chr78182570581825745E07343191
chr78173955781740067E074-42447
chr78179306781793164E07410553
chr78179379181793835E07411277
chr78179386681793920E07411352
chr78179393381794045E07411419
chr78179418781794626E07411673
chr78179485781794911E07412343
chr78179684381797389E07414329
chr78180234681802469E07419832
chr78180247581802557E07419961
chr78175821781758787E081-23727
chr78175941181759461E081-23053
chr78177080981771041E081-11473
chr78177107481771193E081-11321
chr78177927981779451E081-3063
chr78178229081782388E081-126
chr78179418781794626E08111673
chr78179485781794911E08112343
chr78182331681823739E08140802
chr78182376581823818E08141251
chr78183008681830273E08147572
chr78183047781830591E08147963
chr78183081881830906E08148304
chr78183109581831227E08148581
chr78175643981756483E082-26031
chr78177927981779451E082-3063
chr78177963981779683E082-2831
chr78177995381780045E082-2469
chr78178030581780443E082-2071
chr78182331681823739E08240802
chr78182376581823818E08241251
chr78182415881824216E08241644
chr78183081881830906E08248304
chr78183109581831227E08248581