rs13245734

Homo sapiens
G>T
MAGI2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0067 (2031/29966,GnomAD)
T=0087 (2544/29118,TOPMED)
T=0061 (304/5008,1000G)
T=0069 (265/3854,ALSPAC)
T=0067 (248/3708,TWINSUK)
chr7:78554235 (GRCh38.p7) (7q21.11)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.78554235G>T
GRCh37.p13 chr 7NC_000007.13:g.78183552G>T
MAGI2 RefSeqGeneNG_011487.1:g.904339C>A

Gene: MAGI2, membrane associated guanylate kinase, WW and PDZ domain containing 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
MAGI2 transcript variant 2NM_001301128.1:c.N/AIntron Variant
MAGI2 transcript variant 1NM_012301.3:c.N/AIntron Variant
MAGI2 transcript variant X6XM_011516718.1:c.N/AIntron Variant
MAGI2 transcript variant X9XM_011516719.2:c.N/AIntron Variant
MAGI2 transcript variant X10XM_011516720.2:c.N/AIntron Variant
MAGI2 transcript variant X1XM_017012840.1:c.N/AIntron Variant
MAGI2 transcript variant X2XM_017012841.1:c.N/AIntron Variant
MAGI2 transcript variant X3XM_017012842.1:c.N/AIntron Variant
MAGI2 transcript variant X4XM_017012843.1:c.N/AIntron Variant
MAGI2 transcript variant X5XM_017012844.1:c.N/AIntron Variant
MAGI2 transcript variant X7XM_017012845.1:c.N/AIntron Variant
MAGI2 transcript variant X8XM_017012846.1:c.N/AIntron Variant
MAGI2 transcript variant X11XM_017012847.1:c.N/AIntron Variant
MAGI2 transcript variant X12XM_017012848.1:c.N/AIntron Variant
MAGI2 transcript variant X13XM_017012849.1:c.N/AIntron Variant
MAGI2 transcript variant X14XM_017012850.1:c.N/AIntron Variant
MAGI2 transcript variant X15XM_017012851.1:c.N/AIntron Variant
MAGI2 transcript variant X16XM_017012852.1:c.N/AIntron Variant
MAGI2 transcript variant X17XM_011516726.2:c.N/AGenic Upstream Transcript Variant
MAGI2 transcript variant X19XM_011516728.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.899T=0.101
1000GenomesAmericanSub694G=0.960T=0.040
1000GenomesEast AsianSub1008G=0.987T=0.013
1000GenomesEuropeSub1006G=0.935T=0.065
1000GenomesGlobalStudy-wide5008G=0.939T=0.061
1000GenomesSouth AsianSub978G=0.930T=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.931T=0.069
The Genome Aggregation DatabaseAfricanSub8722G=0.907T=0.093
The Genome Aggregation DatabaseAmericanSub838G=0.970T=0.030
The Genome Aggregation DatabaseEast AsianSub1618G=0.998T=0.002
The Genome Aggregation DatabaseEuropeSub18486G=0.936T=0.063
The Genome Aggregation DatabaseGlobalStudy-wide29966G=0.932T=0.067
The Genome Aggregation DatabaseOtherSub302G=0.930T=0.070
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.912T=0.087
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.933T=0.067
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs132457340.000195alcohol consumption23743675

eQTL of rs13245734 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 rs13245734 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 )
chr77815967978160010E067-23542
chr77816032878160378E067-23174
chr77817053078170587E067-12965
chr77817095778171007E067-12545
chr77817189778172029E067-11523
chr77817205178172101E067-11451
chr77817217878172237E067-11315
chr77819098978191476E0677437
chr77819158278192072E0678030
chr77819210378192189E0678551
chr77819253178192949E0678979
chr77819798078198053E06714428
chr77819808578198334E06714533
chr77819998878200038E06716436
chr77820033978200389E06716787
chr77822329778223577E06739745
chr77822358578223760E06740033
chr77822377178223852E06740219
chr77823114778231374E06747595
chr77814409578144205E068-39347
chr77814422078144396E068-39156
chr77814605778146111E068-37441
chr77816032878160378E068-23174
chr77817095778171007E068-12545
chr77817189778172029E068-11523
chr77817205178172101E068-11451
chr77817217878172237E068-11315
chr77817232778172669E068-10883
chr77819098978191476E0687437
chr77819158278192072E0688030
chr77819210378192189E0688551
chr77819253178192949E0688979
chr77819540578195483E06811853
chr77819591778195959E06812365
chr77819669378196779E06813141
chr77819680478196858E06813252
chr77819698778197027E06813435
chr77819727078197598E06813718
chr77819771078197852E06814158
chr77819798078198053E06814428
chr77819976078199952E06816208
chr77819998878200038E06816436
chr77820033978200389E06816787
chr77820041078200460E06816858
chr77820047178200511E06816919
chr77820065478200778E06817102
chr77820789378208472E06824341
chr77822329778223577E06839745
chr77822358578223760E06840033
chr77823265378232791E06849101
chr77815545078155500E069-28052
chr77815967978160010E069-23542
chr77816032878160378E069-23174
chr77817053078170587E069-12965
chr77817095778171007E069-12545
chr77817167978171733E069-11819
chr77817189778172029E069-11523
chr77817205178172101E069-11451
chr77817217878172237E069-11315
chr77817232778172669E069-10883
chr77818671578186812E0693163
chr77818685778187087E0693305
chr77818762278187711E0694070
chr77818777978188132E0694227
chr77818953978189800E0695987
chr77819017078190230E0696618
chr77819098978191476E0697437
chr77819158278192072E0698030
chr77819210378192189E0698551
chr77819253178192949E0698979
chr77819512978195179E06911577
chr77819540578195483E06911853
chr77819620578196316E06912653
chr77819669378196779E06913141
chr77819680478196858E06913252
chr77819698778197027E06913435
chr77819727078197598E06913718
chr77819771078197852E06914158
chr77819808578198334E06914533
chr77821593278216325E06932380
chr77821673178216775E06933179
chr77822329778223577E06939745
chr77822358578223760E06940033
chr77814409578144205E070-39347
chr77814422078144396E070-39156
chr77817053078170587E070-12965
chr77817095778171007E070-12545
chr77819158278192072E0708030
chr77819210378192189E0708551
chr77819253178192949E0708979
chr77813995978140302E071-43250
chr77816032878160378E071-23174
chr77817053078170587E071-12965
chr77817095778171007E071-12545
chr77817167978171733E071-11819
chr77817189778172029E071-11523
chr77817205178172101E071-11451
chr77817217878172237E071-11315
chr77817232778172669E071-10883
chr77817307278173112E071-10440
chr77817873678178806E071-4746
chr77818685778187087E0713305
chr77818762278187711E0714070
chr77818777978188132E0714227
chr77818953978189800E0715987
chr77819017078190230E0716618
chr77819061378190684E0717061
chr77819082978190909E0717277
chr77819098978191476E0717437
chr77819158278192072E0718030
chr77819210378192189E0718551
chr77819540578195483E07111853
chr77819591778195959E07112365
chr77819620578196316E07112653
chr77819669378196779E07113141
chr77819771078197852E07114158
chr77819798078198053E07114428
chr77819808578198334E07114533
chr77819945578199508E07115903
chr77819976078199952E07116208
chr77819998878200038E07116436
chr77820033978200389E07116787
chr77820041078200460E07116858
chr77820047178200511E07116919
chr77820789378208472E07124341
chr77821773778218013E07134185
chr77815855578158646E072-24906
chr77815887578158971E072-24581
chr77815967978160010E072-23542
chr77816032878160378E072-23174
chr77817053078170587E072-12965
chr77817095778171007E072-12545
chr77817167978171733E072-11819
chr77817189778172029E072-11523
chr77817205178172101E072-11451
chr77817217878172237E072-11315
chr77817232778172669E072-10883
chr77817574978175793E072-7759
chr77817718178177231E072-6321
chr77818671578186812E0723163
chr77818685778187087E0723305
chr77818762278187711E0724070
chr77818953978189800E0725987
chr77819098978191476E0727437
chr77819158278192072E0728030
chr77819210378192189E0728551
chr77819253178192949E0728979
chr77819540578195483E07211853
chr77819669378196779E07213141
chr77819680478196858E07213252
chr77819698778197027E07213435
chr77819727078197598E07213718
chr77819771078197852E07214158
chr77819798078198053E07214428
chr77819808578198334E07214533
chr77819976078199952E07216208
chr77819998878200038E07216436
chr77821747978217529E07233927
chr77822197678222102E07238424
chr77814409578144205E073-39347
chr77814422078144396E073-39156
chr77814630978146360E073-37192
chr77819540578195483E07311853
chr77819976078199952E07316208
chr77819998878200038E07316436
chr77815855578158646E074-24906
chr77815887578158971E074-24581
chr77816032878160378E074-23174
chr77817053078170587E074-12965
chr77817095778171007E074-12545
chr77817167978171733E074-11819
chr77817189778172029E074-11523
chr77817205178172101E074-11451
chr77817217878172237E074-11315
chr77817232778172669E074-10883
chr77818671578186812E0743163
chr77818685778187087E0743305
chr77819017078190230E0746618
chr77819061378190684E0747061
chr77819082978190909E0747277
chr77819098978191476E0747437
chr77819158278192072E0748030
chr77819210378192189E0748551
chr77819540578195483E07411853
chr77819591778195959E07412365
chr77819856978198619E07415017
chr77819870778198757E07415155
chr77819911178199161E07415559
chr77819945578199508E07415903
chr77819976078199952E07416208
chr77819998878200038E07416436
chr77821500878215094E07431456
chr77821526678215379E07431714
chr77821540278215512E07431850
chr77821747978217529E07433927
chr77821773778218013E07434185
chr77822292978223056E07439377
chr77822329778223577E07439745
chr77822358578223760E07440033
chr77822377178223852E07440219
chr77823114778231374E07447595
chr77818953978189800E0815987
chr77819098978191476E0817437
chr77819158278192072E0818030
chr77819210378192189E0818551
chr77819253178192949E0818979
chr77819098978191476E0827437
chr77819158278192072E0828030
chr77819210378192189E0828551
chr77819253178192949E0828979