rs7644782

Homo sapiens
A>G
CACNA2D2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0037 (1108/29956,GnomAD)
G=0054 (1571/29118,TOPMED)
G=0044 (219/5008,1000G)
chr3:50387383 (GRCh38.p7) (3p21.31)
AD
GWASdb2
1   publication(s)
See rs on genome
262 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.50387383A>G
GRCh37.p13 chr 3NC_000003.11:g.50424814A>G
CACNA2D2 RefSeqGeneNG_034070.1:g.121862T>C

Gene: CACNA2D2, calcium voltage-gated channel auxiliary subunit alpha2delta 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CACNA2D2 transcript variant 1NM_001005505.2:c.N/AIntron Variant
CACNA2D2 transcript variant 3NM_001174051.2:c.N/AIntron Variant
CACNA2D2 transcript variant 4NM_001291101.1:c.N/AIntron Variant
CACNA2D2 transcript variant 2NM_006030.3:c.N/AIntron Variant
CACNA2D2 transcript variant X2XM_005265581.4:c.N/AIntron Variant
CACNA2D2 transcript variant X1XM_011534243.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.840G=0.160
1000GenomesAmericanSub694A=0.990G=0.010
1000GenomesEast AsianSub1008A=1.000G=0.000
1000GenomesEuropeSub1006A=1.000G=0.000
1000GenomesGlobalStudy-wide5008A=0.956G=0.044
1000GenomesSouth AsianSub978A=1.000G=0.000
The Genome Aggregation DatabaseAfricanSub8722A=0.874G=0.126
The Genome Aggregation DatabaseAmericanSub838A=0.990G=0.010
The Genome Aggregation DatabaseEast AsianSub1622A=1.000G=0.000
The Genome Aggregation DatabaseEuropeSub18472A=0.999G=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29956A=0.963G=0.037
The Genome Aggregation DatabaseOtherSub302A=1.000G=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.946G=0.054
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
rs76447820.000254alcohol dependence20201924

eQTL of rs7644782 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 rs7644782 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 )
chr35038245250382502E067-42312
chr35038257450382701E067-42113
chr35038679850386988E067-37826
chr35038701550387098E067-37716
chr35038942050389566E067-35248
chr35039321750393281E067-31533
chr35039329350393368E067-31446
chr35039337450394013E067-30801
chr35040802550408328E067-16486
chr35040869350408837E067-15977
chr35040892050408981E067-15833
chr35042799750428728E0673183
chr35042914650429280E0674332
chr35046041050460488E06735596
chr35038679850386988E068-37826
chr35038701550387098E068-37716
chr35039321750393281E068-31533
chr35039329350393368E068-31446
chr35039337450394013E068-30801
chr35042914650429280E0684332
chr35046041050460488E06835596
chr35046101750461290E06836203
chr35046129350461354E06836479
chr35046150650461546E06836692
chr35046742250468056E06842608
chr35046810950468169E06843295
chr35046842150468623E06843607
chr35046869250468847E06843878
chr35038245250382502E069-42312
chr35038257450382701E069-42113
chr35038679850386988E069-37826
chr35038942050389566E069-35248
chr35039300950393100E069-31714
chr35039321750393281E069-31533
chr35039329350393368E069-31446
chr35039337450394013E069-30801
chr35042799750428728E0693183
chr35042914650429280E0694332
chr35043009550430162E0695281
chr35043039550430449E0695581
chr35046101750461290E06936203
chr35046742250468056E06942608
chr35046810950468169E06943295
chr35046842150468623E06943607
chr35046869250468847E06943878
chr35038519850385365E070-39449
chr35038549250385758E070-39056
chr35038595850386038E070-38776
chr35038616750386222E070-38592
chr35038648250386596E070-38218
chr35039088250390969E070-33845
chr35039127950391413E070-33401
chr35039240750392478E070-32336
chr35039276550392820E070-31994
chr35040757050407620E070-17194
chr35040766350407721E070-17093
chr35040802550408328E070-16486
chr35040869350408837E070-15977
chr35040892050408981E070-15833
chr35040949950409774E070-15040
chr35040985250410176E070-14638
chr35041050550410764E070-14050
chr35041083850411072E070-13742
chr35041118250411370E070-13444
chr35041140350411551E070-13263
chr35041187350412119E070-12695
chr35041250250412601E070-12213
chr35041278250412892E070-11922
chr35041430450414493E070-10321
chr35041463550414749E070-10065
chr35041684550416909E070-7905
chr35041768650417789E070-7025
chr35041791350418128E070-6686
chr35041880550419207E070-5607
chr35041951950419569E070-5245
chr35041984550420113E070-4701
chr35042109250421200E070-3614
chr35042206750422190E070-2624
chr35042466450424708E070-106
chr35042623150426456E0701417
chr35042696150427015E0702147
chr35042799750428728E0703183
chr35042914650429280E0704332
chr35042964950429848E0704835
chr35043009550430162E0705281
chr35043039550430449E0705581
chr35043119050431279E0706376
chr35043460150434681E0709787
chr35043472950434811E0709915
chr35044237250442422E07017558
chr35044264250442724E07017828
chr35044279850443062E07017984
chr35044361650443746E07018802
chr35044534550445439E07020531
chr35044594850446180E07021134
chr35044821750448303E07023403
chr35044836950448420E07023555
chr35044884250448908E07024028
chr35045041850450468E07025604
chr35046041050460488E07035596
chr35046101750461290E07036203
chr35046129350461354E07036479
chr35046150650461546E07036692
chr35046342750463556E07038613
chr35046471650464922E07039902
chr35046553650465752E07040722
chr35046581150465980E07040997
chr35046717150467270E07042357
chr35046731350467365E07042499
chr35046742250468056E07042608
chr35046810950468169E07043295
chr35046842150468623E07043607
chr35046869250468847E07043878
chr35046976350469813E07044949
chr35047264650473258E07047832
chr35047333250473392E07048518
chr35047341450473965E07048600
chr35038257450382701E071-42113
chr35038519850385365E071-39449
chr35038679850386988E071-37826
chr35038701550387098E071-37716
chr35038942050389566E071-35248
chr35039015650390599E071-34215
chr35039300950393100E071-31714
chr35039321750393281E071-31533
chr35039329350393368E071-31446
chr35039337450394013E071-30801
chr35042799750428728E0713183
chr35042914650429280E0714332
chr35046041050460488E07135596
chr35046101750461290E07136203
chr35046129350461354E07136479
chr35046150650461546E07136692
chr35046742250468056E07142608
chr35046810950468169E07143295
chr35046842150468623E07143607
chr35046869250468847E07143878
chr35038245250382502E072-42312
chr35038257450382701E072-42113
chr35038460750385131E072-39683
chr35038519850385365E072-39449
chr35038648250386596E072-38218
chr35038679850386988E072-37826
chr35039321750393281E072-31533
chr35039329350393368E072-31446
chr35039337450394013E072-30801
chr35040802550408328E072-16486
chr35040869350408837E072-15977
chr35040892050408981E072-15833
chr35042109250421200E072-3614
chr35042121150421522E072-3292
chr35042206750422190E072-2624
chr35042799750428728E0723183
chr35042914650429280E0724332
chr35042964950429848E0724835
chr35043009550430162E0725281
chr35046101750461290E07236203
chr35046129350461354E07236479
chr35046150650461546E07236692
chr35046810950468169E07243295
chr35046842150468623E07243607
chr35046869250468847E07243878
chr35038519850385365E073-39449
chr35038549250385758E073-39056
chr35038595850386038E073-38776
chr35038616750386222E073-38592
chr35038648250386596E073-38218
chr35038679850386988E073-37826
chr35038942050389566E073-35248
chr35039088250390969E073-33845
chr35039240750392478E073-32336
chr35039276550392820E073-31994
chr35039300950393100E073-31714
chr35039321750393281E073-31533
chr35039329350393368E073-31446
chr35040136450401604E073-23210
chr35040869350408837E073-15977
chr35040892050408981E073-15833
chr35041984550420113E073-4701
chr35042109250421200E073-3614
chr35042121150421522E073-3292
chr35042799750428728E0733183
chr35042914650429280E0734332
chr35042964950429848E0734835
chr35043009550430162E0735281
chr35044594850446180E07321134
chr35046101750461290E07336203
chr35046129350461354E07336479
chr35046150650461546E07336692
chr35046842150468623E07343607
chr35047403550474162E07349221
chr35038679850386988E074-37826
chr35038701550387098E074-37716
chr35038942050389566E074-35248
chr35039321750393281E074-31533
chr35039329350393368E074-31446
chr35039337450394013E074-30801
chr35039752750397864E074-26950
chr35042799750428728E0743183
chr35042914650429280E0744332
chr35046101750461290E07436203
chr35046129350461354E07436479
chr35046150650461546E07436692
chr35046742250468056E07442608
chr35046810950468169E07443295
chr35046842150468623E07443607
chr35046869250468847E07443878
chr35038648250386596E081-38218
chr35038679850386988E081-37826
chr35038701550387098E081-37716
chr35039300950393100E081-31714
chr35039321750393281E081-31533
chr35039329350393368E081-31446
chr35039402450394415E081-30399
chr35039441950394490E081-30324
chr35040802550408328E081-16486
chr35040869350408837E081-15977
chr35040892050408981E081-15833
chr35040985250410176E081-14638
chr35041050550410764E081-14050
chr35041083850411072E081-13742
chr35041118250411370E081-13444
chr35041951950419569E081-5245
chr35042330350423434E081-1380
chr35042466450424708E081-106
chr35042540350425680E081589
chr35042576550425809E081951
chr35042589250426088E0811078
chr35042623150426456E0811417
chr35042799750428728E0813183
chr35042914650429280E0814332
chr35042964950429848E0814835
chr35046150650461546E08136692
chr35046471650464922E08139902
chr35046553650465752E08140722
chr35046581150465980E08140997
chr35046842150468623E08143607
chr35046869250468847E08143878
chr35047264650473258E08147832
chr35047333250473392E08148518
chr35047341450473965E08148600
chr35038104050381094E082-43720
chr35038117250381225E082-43589
chr35038519850385365E082-39449
chr35038549250385758E082-39056
chr35038595850386038E082-38776
chr35038616750386222E082-38592
chr35038648250386596E082-38218
chr35038942050389566E082-35248
chr35039015650390599E082-34215
chr35039300950393100E082-31714
chr35039321750393281E082-31533
chr35039329350393368E082-31446
chr35042466450424708E082-106
chr35042540350425680E082589
chr35042576550425809E082951
chr35042589250426088E0821078
chr35042799750428728E0823183
chr35044594850446180E08221134
chr35046553650465752E08240722
chr35046581150465980E08240997
chr35046810950468169E08243295










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr35039624450397512E067-27302
chr35040204650403310E067-21504
chr35039624450397512E068-27302
chr35040204650403310E068-21504
chr35039624450397512E069-27302
chr35040204650403310E069-21504
chr35039624450397512E070-27302
chr35040204650403310E070-21504
chr35039624450397512E071-27302
chr35040204650403310E071-21504
chr35039624450397512E072-27302
chr35040204650403310E072-21504
chr35039624450397512E073-27302
chr35040204650403310E073-21504
chr35039624450397512E074-27302
chr35040204650403310E074-21504
chr35039624450397512E081-27302
chr35039624450397512E082-27302
chr35040204650403310E082-21504