rs7612641

Homo sapiens
G>A
CACNA2D2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0036 (1077/29916,GnomAD)
A=0052 (1540/29118,TOPMED)
A=0044 (220/5008,1000G)
chr3:50393047 (GRCh38.p7) (3p21.31)
AD
GWASdb2
1   publication(s)
See rs on genome
276 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.50393047G>A
GRCh37.p13 chr 3NC_000003.11:g.50430478G>A
CACNA2D2 RefSeqGeneNG_034070.1:g.116198C>T

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
1000GenomesAfricanSub1322G=0.839A=0.161
1000GenomesAmericanSub694G=0.990A=0.010
1000GenomesEast AsianSub1008G=1.000A=0.000
1000GenomesEuropeSub1006G=1.000A=0.000
1000GenomesGlobalStudy-wide5008G=0.956A=0.044
1000GenomesSouth AsianSub978G=1.000A=0.000
The Genome Aggregation DatabaseAfricanSub8698G=0.877A=0.123
The Genome Aggregation DatabaseAmericanSub838G=0.990A=0.010
The Genome Aggregation DatabaseEast AsianSub1622G=1.000A=0.000
The Genome Aggregation DatabaseEuropeSub18456G=0.999A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29916G=0.964A=0.036
The Genome Aggregation DatabaseOtherSub302G=1.000A=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.947A=0.052
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
rs76126410.000356alcohol dependence20201924

eQTL of rs7612641 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 rs7612641 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 )
chr35038245250382502E067-47976
chr35038257450382701E067-47777
chr35038679850386988E067-43490
chr35038701550387098E067-43380
chr35038942050389566E067-40912
chr35039321750393281E067-37197
chr35039329350393368E067-37110
chr35039337450394013E067-36465
chr35040802550408328E067-22150
chr35040869350408837E067-21641
chr35040892050408981E067-21497
chr35042799750428728E067-1750
chr35042914650429280E067-1198
chr35046041050460488E06729932
chr35038679850386988E068-43490
chr35038701550387098E068-43380
chr35039321750393281E068-37197
chr35039329350393368E068-37110
chr35039337450394013E068-36465
chr35042914650429280E068-1198
chr35046041050460488E06829932
chr35046101750461290E06830539
chr35046129350461354E06830815
chr35046150650461546E06831028
chr35046742250468056E06836944
chr35046810950468169E06837631
chr35046842150468623E06837943
chr35046869250468847E06838214
chr35047592050476041E06845442
chr35047610550476176E06845627
chr35038245250382502E069-47976
chr35038257450382701E069-47777
chr35038679850386988E069-43490
chr35038942050389566E069-40912
chr35039300950393100E069-37378
chr35039321750393281E069-37197
chr35039329350393368E069-37110
chr35039337450394013E069-36465
chr35042799750428728E069-1750
chr35042914650429280E069-1198
chr35043009550430162E069-316
chr35043039550430449E069-29
chr35046101750461290E06930539
chr35046742250468056E06936944
chr35046810950468169E06937631
chr35046842150468623E06937943
chr35046869250468847E06938214
chr35038519850385365E070-45113
chr35038549250385758E070-44720
chr35038595850386038E070-44440
chr35038616750386222E070-44256
chr35038648250386596E070-43882
chr35039088250390969E070-39509
chr35039127950391413E070-39065
chr35039240750392478E070-38000
chr35039276550392820E070-37658
chr35040757050407620E070-22858
chr35040766350407721E070-22757
chr35040802550408328E070-22150
chr35040869350408837E070-21641
chr35040892050408981E070-21497
chr35040949950409774E070-20704
chr35040985250410176E070-20302
chr35041050550410764E070-19714
chr35041083850411072E070-19406
chr35041118250411370E070-19108
chr35041140350411551E070-18927
chr35041187350412119E070-18359
chr35041250250412601E070-17877
chr35041278250412892E070-17586
chr35041430450414493E070-15985
chr35041463550414749E070-15729
chr35041684550416909E070-13569
chr35041768650417789E070-12689
chr35041791350418128E070-12350
chr35041880550419207E070-11271
chr35041951950419569E070-10909
chr35041984550420113E070-10365
chr35042109250421200E070-9278
chr35042206750422190E070-8288
chr35042466450424708E070-5770
chr35042623150426456E070-4022
chr35042696150427015E070-3463
chr35042799750428728E070-1750
chr35042914650429280E070-1198
chr35042964950429848E070-630
chr35043009550430162E070-316
chr35043039550430449E070-29
chr35043119050431279E070712
chr35043460150434681E0704123
chr35043472950434811E0704251
chr35044237250442422E07011894
chr35044264250442724E07012164
chr35044279850443062E07012320
chr35044361650443746E07013138
chr35044534550445439E07014867
chr35044594850446180E07015470
chr35044821750448303E07017739
chr35044836950448420E07017891
chr35044884250448908E07018364
chr35045041850450468E07019940
chr35046041050460488E07029932
chr35046101750461290E07030539
chr35046129350461354E07030815
chr35046150650461546E07031028
chr35046342750463556E07032949
chr35046471650464922E07034238
chr35046553650465752E07035058
chr35046581150465980E07035333
chr35046717150467270E07036693
chr35046731350467365E07036835
chr35046742250468056E07036944
chr35046810950468169E07037631
chr35046842150468623E07037943
chr35046869250468847E07038214
chr35046976350469813E07039285
chr35047264650473258E07042168
chr35047333250473392E07042854
chr35047341450473965E07042936
chr35047592050476041E07045442
chr35047610550476176E07045627
chr35047703350477139E07046555
chr35047812850478233E07047650
chr35047878150478835E07048303
chr35047899150479048E07048513
chr35047939950479518E07048921
chr35038257450382701E071-47777
chr35038519850385365E071-45113
chr35038679850386988E071-43490
chr35038701550387098E071-43380
chr35038942050389566E071-40912
chr35039015650390599E071-39879
chr35039300950393100E071-37378
chr35039321750393281E071-37197
chr35039329350393368E071-37110
chr35039337450394013E071-36465
chr35042799750428728E071-1750
chr35042914650429280E071-1198
chr35046041050460488E07129932
chr35046101750461290E07130539
chr35046129350461354E07130815
chr35046150650461546E07131028
chr35046742250468056E07136944
chr35046810950468169E07137631
chr35046842150468623E07137943
chr35046869250468847E07138214
chr35038245250382502E072-47976
chr35038257450382701E072-47777
chr35038460750385131E072-45347
chr35038519850385365E072-45113
chr35038648250386596E072-43882
chr35038679850386988E072-43490
chr35039321750393281E072-37197
chr35039329350393368E072-37110
chr35039337450394013E072-36465
chr35040802550408328E072-22150
chr35040869350408837E072-21641
chr35040892050408981E072-21497
chr35042109250421200E072-9278
chr35042121150421522E072-8956
chr35042206750422190E072-8288
chr35042799750428728E072-1750
chr35042914650429280E072-1198
chr35042964950429848E072-630
chr35043009550430162E072-316
chr35046101750461290E07230539
chr35046129350461354E07230815
chr35046150650461546E07231028
chr35046810950468169E07237631
chr35046842150468623E07237943
chr35046869250468847E07238214
chr35038519850385365E073-45113
chr35038549250385758E073-44720
chr35038595850386038E073-44440
chr35038616750386222E073-44256
chr35038648250386596E073-43882
chr35038679850386988E073-43490
chr35038942050389566E073-40912
chr35039088250390969E073-39509
chr35039240750392478E073-38000
chr35039276550392820E073-37658
chr35039300950393100E073-37378
chr35039321750393281E073-37197
chr35039329350393368E073-37110
chr35040136450401604E073-28874
chr35040869350408837E073-21641
chr35040892050408981E073-21497
chr35041984550420113E073-10365
chr35042109250421200E073-9278
chr35042121150421522E073-8956
chr35042799750428728E073-1750
chr35042914650429280E073-1198
chr35042964950429848E073-630
chr35043009550430162E073-316
chr35044594850446180E07315470
chr35046101750461290E07330539
chr35046129350461354E07330815
chr35046150650461546E07331028
chr35046842150468623E07337943
chr35047403550474162E07343557
chr35038679850386988E074-43490
chr35038701550387098E074-43380
chr35038942050389566E074-40912
chr35039321750393281E074-37197
chr35039329350393368E074-37110
chr35039337450394013E074-36465
chr35039752750397864E074-32614
chr35042799750428728E074-1750
chr35042914650429280E074-1198
chr35046101750461290E07430539
chr35046129350461354E07430815
chr35046150650461546E07431028
chr35046742250468056E07436944
chr35046810950468169E07437631
chr35046842150468623E07437943
chr35046869250468847E07438214
chr35038648250386596E081-43882
chr35038679850386988E081-43490
chr35038701550387098E081-43380
chr35039300950393100E081-37378
chr35039321750393281E081-37197
chr35039329350393368E081-37110
chr35039402450394415E081-36063
chr35039441950394490E081-35988
chr35040802550408328E081-22150
chr35040869350408837E081-21641
chr35040892050408981E081-21497
chr35040985250410176E081-20302
chr35041050550410764E081-19714
chr35041083850411072E081-19406
chr35041118250411370E081-19108
chr35041951950419569E081-10909
chr35042330350423434E081-7044
chr35042466450424708E081-5770
chr35042540350425680E081-4798
chr35042576550425809E081-4669
chr35042589250426088E081-4390
chr35042623150426456E081-4022
chr35042799750428728E081-1750
chr35042914650429280E081-1198
chr35042964950429848E081-630
chr35046150650461546E08131028
chr35046471650464922E08134238
chr35046553650465752E08135058
chr35046581150465980E08135333
chr35046842150468623E08137943
chr35046869250468847E08138214
chr35047264650473258E08142168
chr35047333250473392E08142854
chr35047341450473965E08142936
chr35047812850478233E08147650
chr35038104050381094E082-49384
chr35038117250381225E082-49253
chr35038519850385365E082-45113
chr35038549250385758E082-44720
chr35038595850386038E082-44440
chr35038616750386222E082-44256
chr35038648250386596E082-43882
chr35038942050389566E082-40912
chr35039015650390599E082-39879
chr35039300950393100E082-37378
chr35039321750393281E082-37197
chr35039329350393368E082-37110
chr35042466450424708E082-5770
chr35042540350425680E082-4798
chr35042576550425809E082-4669
chr35042589250426088E082-4390
chr35042799750428728E082-1750
chr35044594850446180E08215470
chr35046553650465752E08235058
chr35046581150465980E08235333
chr35046810950468169E08237631
chr35047812850478233E08247650
chr35047878150478835E08248303
chr35047899150479048E08248513
chr35047939950479518E08248921










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr35039624450397512E067-32966
chr35040204650403310E067-27168
chr35039624450397512E068-32966
chr35040204650403310E068-27168
chr35039624450397512E069-32966
chr35040204650403310E069-27168
chr35039624450397512E070-32966
chr35040204650403310E070-27168
chr35039624450397512E071-32966
chr35040204650403310E071-27168
chr35039624450397512E072-32966
chr35040204650403310E072-27168
chr35039624450397512E073-32966
chr35040204650403310E073-27168
chr35039624450397512E074-32966
chr35040204650403310E074-27168
chr35039624450397512E081-32966
chr35039624450397512E082-32966
chr35040204650403310E082-27168