rs12705579

Homo sapiens
G>A
MAGI2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0067 (2026/29956,GnomAD)
A=0087 (2537/29118,TOPMED)
A=0061 (306/5008,1000G)
A=0069 (266/3854,ALSPAC)
A=0067 (248/3708,TWINSUK)
chr7:78554905 (GRCh38.p7) (7q21.11)
AD
GWASdb2
1   publication(s)
See rs on genome
211 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.78554905G>A
GRCh37.p13 chr 7NC_000007.13:g.78184222G>A
MAGI2 RefSeqGeneNG_011487.1:g.903669C>T

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=0.898A=0.102
1000GenomesAmericanSub694G=0.960A=0.040
1000GenomesEast AsianSub1008G=0.987A=0.013
1000GenomesEuropeSub1006G=0.935A=0.065
1000GenomesGlobalStudy-wide5008G=0.939A=0.061
1000GenomesSouth AsianSub978G=0.930A=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.931A=0.069
The Genome Aggregation DatabaseAfricanSub8708G=0.908A=0.092
The Genome Aggregation DatabaseAmericanSub838G=0.970A=0.030
The Genome Aggregation DatabaseEast AsianSub1620G=0.998A=0.002
The Genome Aggregation DatabaseEuropeSub18488G=0.936A=0.063
The Genome Aggregation DatabaseGlobalStudy-wide29956G=0.932A=0.067
The Genome Aggregation DatabaseOtherSub302G=0.930A=0.070
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.912A=0.087
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.933A=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
rs127055790.000176alcohol consumption23743675

eQTL of rs12705579 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 rs12705579 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 )
chr77815967978160010E067-24212
chr77816032878160378E067-23844
chr77817053078170587E067-13635
chr77817095778171007E067-13215
chr77817189778172029E067-12193
chr77817205178172101E067-12121
chr77817217878172237E067-11985
chr77819098978191476E0676767
chr77819158278192072E0677360
chr77819210378192189E0677881
chr77819253178192949E0678309
chr77819798078198053E06713758
chr77819808578198334E06713863
chr77819998878200038E06715766
chr77820033978200389E06716117
chr77822329778223577E06739075
chr77822358578223760E06739363
chr77822377178223852E06739549
chr77823114778231374E06746925
chr77814409578144205E068-40017
chr77814422078144396E068-39826
chr77814605778146111E068-38111
chr77816032878160378E068-23844
chr77817095778171007E068-13215
chr77817189778172029E068-12193
chr77817205178172101E068-12121
chr77817217878172237E068-11985
chr77817232778172669E068-11553
chr77819098978191476E0686767
chr77819158278192072E0687360
chr77819210378192189E0687881
chr77819253178192949E0688309
chr77819540578195483E06811183
chr77819591778195959E06811695
chr77819669378196779E06812471
chr77819680478196858E06812582
chr77819698778197027E06812765
chr77819727078197598E06813048
chr77819771078197852E06813488
chr77819798078198053E06813758
chr77819976078199952E06815538
chr77819998878200038E06815766
chr77820033978200389E06816117
chr77820041078200460E06816188
chr77820047178200511E06816249
chr77820065478200778E06816432
chr77820789378208472E06823671
chr77822329778223577E06839075
chr77822358578223760E06839363
chr77823265378232791E06848431
chr77815545078155500E069-28722
chr77815967978160010E069-24212
chr77816032878160378E069-23844
chr77817053078170587E069-13635
chr77817095778171007E069-13215
chr77817167978171733E069-12489
chr77817189778172029E069-12193
chr77817205178172101E069-12121
chr77817217878172237E069-11985
chr77817232778172669E069-11553
chr77818671578186812E0692493
chr77818685778187087E0692635
chr77818762278187711E0693400
chr77818777978188132E0693557
chr77818953978189800E0695317
chr77819017078190230E0695948
chr77819098978191476E0696767
chr77819158278192072E0697360
chr77819210378192189E0697881
chr77819253178192949E0698309
chr77819512978195179E06910907
chr77819540578195483E06911183
chr77819620578196316E06911983
chr77819669378196779E06912471
chr77819680478196858E06912582
chr77819698778197027E06912765
chr77819727078197598E06913048
chr77819771078197852E06913488
chr77819808578198334E06913863
chr77821593278216325E06931710
chr77821673178216775E06932509
chr77822329778223577E06939075
chr77822358578223760E06939363
chr77814409578144205E070-40017
chr77814422078144396E070-39826
chr77817053078170587E070-13635
chr77817095778171007E070-13215
chr77819158278192072E0707360
chr77819210378192189E0707881
chr77819253178192949E0708309
chr77813995978140302E071-43920
chr77816032878160378E071-23844
chr77817053078170587E071-13635
chr77817095778171007E071-13215
chr77817167978171733E071-12489
chr77817189778172029E071-12193
chr77817205178172101E071-12121
chr77817217878172237E071-11985
chr77817232778172669E071-11553
chr77817307278173112E071-11110
chr77817873678178806E071-5416
chr77818685778187087E0712635
chr77818762278187711E0713400
chr77818777978188132E0713557
chr77818953978189800E0715317
chr77819017078190230E0715948
chr77819061378190684E0716391
chr77819082978190909E0716607
chr77819098978191476E0716767
chr77819158278192072E0717360
chr77819210378192189E0717881
chr77819540578195483E07111183
chr77819591778195959E07111695
chr77819620578196316E07111983
chr77819669378196779E07112471
chr77819771078197852E07113488
chr77819798078198053E07113758
chr77819808578198334E07113863
chr77819945578199508E07115233
chr77819976078199952E07115538
chr77819998878200038E07115766
chr77820033978200389E07116117
chr77820041078200460E07116188
chr77820047178200511E07116249
chr77820789378208472E07123671
chr77821773778218013E07133515
chr77815855578158646E072-25576
chr77815887578158971E072-25251
chr77815967978160010E072-24212
chr77816032878160378E072-23844
chr77817053078170587E072-13635
chr77817095778171007E072-13215
chr77817167978171733E072-12489
chr77817189778172029E072-12193
chr77817205178172101E072-12121
chr77817217878172237E072-11985
chr77817232778172669E072-11553
chr77817574978175793E072-8429
chr77817718178177231E072-6991
chr77818671578186812E0722493
chr77818685778187087E0722635
chr77818762278187711E0723400
chr77818953978189800E0725317
chr77819098978191476E0726767
chr77819158278192072E0727360
chr77819210378192189E0727881
chr77819253178192949E0728309
chr77819540578195483E07211183
chr77819669378196779E07212471
chr77819680478196858E07212582
chr77819698778197027E07212765
chr77819727078197598E07213048
chr77819771078197852E07213488
chr77819798078198053E07213758
chr77819808578198334E07213863
chr77819976078199952E07215538
chr77819998878200038E07215766
chr77821747978217529E07233257
chr77822197678222102E07237754
chr77823374478233860E07249522
chr77814409578144205E073-40017
chr77814422078144396E073-39826
chr77814630978146360E073-37862
chr77819540578195483E07311183
chr77819976078199952E07315538
chr77819998878200038E07315766
chr77815855578158646E074-25576
chr77815887578158971E074-25251
chr77816032878160378E074-23844
chr77817053078170587E074-13635
chr77817095778171007E074-13215
chr77817167978171733E074-12489
chr77817189778172029E074-12193
chr77817205178172101E074-12121
chr77817217878172237E074-11985
chr77817232778172669E074-11553
chr77818671578186812E0742493
chr77818685778187087E0742635
chr77819017078190230E0745948
chr77819061378190684E0746391
chr77819082978190909E0746607
chr77819098978191476E0746767
chr77819158278192072E0747360
chr77819210378192189E0747881
chr77819540578195483E07411183
chr77819591778195959E07411695
chr77819856978198619E07414347
chr77819870778198757E07414485
chr77819911178199161E07414889
chr77819945578199508E07415233
chr77819976078199952E07415538
chr77819998878200038E07415766
chr77821500878215094E07430786
chr77821526678215379E07431044
chr77821540278215512E07431180
chr77821747978217529E07433257
chr77821773778218013E07433515
chr77822292978223056E07438707
chr77822329778223577E07439075
chr77822358578223760E07439363
chr77822377178223852E07439549
chr77823114778231374E07446925
chr77818953978189800E0815317
chr77819098978191476E0816767
chr77819158278192072E0817360
chr77819210378192189E0817881
chr77819253178192949E0818309
chr77819098978191476E0826767
chr77819158278192072E0827360
chr77819210378192189E0827881
chr77819253178192949E0828309