rs7431992

Homo sapiens
T>A
CACNA2D3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0085 (2489/29118,TOPMED)
A=0092 (2502/27178,GnomAD)
A=0086 (429/5008,1000G)
chr3:54319213 (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.54319213T>A
GRCh37.p13 chr 3NC_000003.11:g.54353240T>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 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 X2XM_017006850.1:c.N/AIntron Variant
CACNA2D3 transcript variant X11XM_017006852.1:c.N/AIntron Variant
CACNA2D3 transcript variant X21XM_011533954.2:c.N/AGenic Upstream Transcript Variant
CACNA2D3 transcript variant X23XM_011533955.1:c.N/AGenic Upstream Transcript Variant
CACNA2D3 transcript variant X7XM_017006851.1:c.N/AGenic Upstream Transcript Variant
CACNA2D3 transcript variant X13XM_017006853.1:c.N/AGenic Upstream Transcript Variant
CACNA2D3 transcript variant X14XM_017006854.1:c.N/AGenic Upstream 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
1000GenomesAfricanSub1322T=0.955A=0.045
1000GenomesAmericanSub694T=0.920A=0.080
1000GenomesEast AsianSub1008T=0.909A=0.091
1000GenomesEuropeSub1006T=0.879A=0.121
1000GenomesGlobalStudy-wide5008T=0.914A=0.086
1000GenomesSouth AsianSub978T=0.900A=0.100
The Genome Aggregation DatabaseAfricanSub7704T=0.937A=0.063
The Genome Aggregation DatabaseAmericanSub752T=0.930A=0.070
The Genome Aggregation DatabaseEast AsianSub1474T=0.918A=0.082
The Genome Aggregation DatabaseEuropeSub16960T=0.894A=0.105
The Genome Aggregation DatabaseGlobalStudy-wide27178T=0.907A=0.092
The Genome Aggregation DatabaseOtherSub288T=0.840A=0.160
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.914A=0.085
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
rs74319920.000262nicotine smoking19268276

eQTL of rs7431992 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 rs7431992 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 )
chr35439038254390780E06737142
chr35439086354390973E06737623
chr35439362754393727E06740387
chr35438778154387859E06834541
chr35438851654388591E06835276
chr35439002654390129E06836786
chr35439021454390341E06836974
chr35439038254390780E06837142
chr35439086354390973E06837623
chr35438877454388834E06935534
chr35438884954388931E06935609
chr35438927554389332E06936035
chr35439038254390780E06937142
chr35439086354390973E06937623
chr35430471754305280E070-47960
chr35430530654305438E070-47802
chr35433071254330773E070-22467
chr35433094254331228E070-22012
chr35433819154338280E070-14960
chr35433870554338747E070-14493
chr35433899954339142E070-14098
chr35434152954341620E070-11620
chr35434169054341855E070-11385
chr35436480654364856E07011566
chr35436542754365708E07012187
chr35436657754366659E07013337
chr35439146654391560E07038226
chr35433819154338280E071-14960
chr35433870554338747E071-14493
chr35433899954339142E071-14098
chr35438927554389332E07136035
chr35433819154338280E072-14960
chr35433870554338747E072-14493
chr35430396854304266E073-48974
chr35430530654305438E073-47802
chr35433819154338280E073-14960
chr35438877454388834E07335534
chr35438884954388931E07335609
chr35438927554389332E07336035
chr35439002654390129E07336786
chr35439021454390341E07336974
chr35439038254390780E07337142
chr35439086354390973E07337623
chr35430471754305280E081-47960
chr35430530654305438E081-47802
chr35434617654346890E081-6350
chr35435602254356339E0812782
chr35435637754356710E0813137
chr35436388354364327E08110643
chr35436480654364856E08111566
chr35436542754365708E08112187
chr35436657754366659E08113337
chr35438778154387859E08134541
chr35438805054388105E08134810
chr35438811554388260E08134875
chr35438851654388591E08135276
chr35438877454388834E08135534
chr35438884954388931E08135609
chr35438927554389332E08136035
chr35439002654390129E08136786
chr35439021454390341E08136974
chr35439038254390780E08137142
chr35439086354390973E08137623
chr35439146654391560E08138226
chr35440102254401160E08147782
chr35430471754305280E082-47960
chr35430530654305438E082-47802
chr35436480654364856E08211566
chr35436657754366659E08213337
chr35438327154383544E08230031