rs12705591

Homo sapiens
T>C
MAGI2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0093 (2791/29954,GnomAD)
C=0117 (3425/29118,TOPMED)
C=0077 (385/5008,1000G)
C=0101 (389/3854,ALSPAC)
C=0094 (350/3708,TWINSUK)
chr7:78562053 (GRCh38.p7) (7q21.11)
AD
GWASdb2
1   publication(s)
See rs on genome
219 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.78562053T>C
GRCh37.p13 chr 7NC_000007.13:g.78191370T>C
MAGI2 RefSeqGeneNG_011487.1:g.896521A>G

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
1000GenomesAfricanSub1322T=0.862C=0.138
1000GenomesAmericanSub694T=0.950C=0.050
1000GenomesEast AsianSub1008T=0.987C=0.013
1000GenomesEuropeSub1006T=0.915C=0.085
1000GenomesGlobalStudy-wide5008T=0.923C=0.077
1000GenomesSouth AsianSub978T=0.930C=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.899C=0.101
The Genome Aggregation DatabaseAfricanSub8692T=0.862C=0.138
The Genome Aggregation DatabaseAmericanSub838T=0.950C=0.050
The Genome Aggregation DatabaseEast AsianSub1620T=0.998C=0.002
The Genome Aggregation DatabaseEuropeSub18502T=0.917C=0.082
The Genome Aggregation DatabaseGlobalStudy-wide29954T=0.906C=0.093
The Genome Aggregation DatabaseOtherSub302T=0.930C=0.070
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.882C=0.117
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.906C=0.094
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
rs127055910.00018alcohol consumption23743675

eQTL of rs12705591 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 rs12705591 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 )
chr77815967978160010E067-31360
chr77816032878160378E067-30992
chr77817053078170587E067-20783
chr77817095778171007E067-20363
chr77817189778172029E067-19341
chr77817205178172101E067-19269
chr77817217878172237E067-19133
chr77819098978191476E0670
chr77819158278192072E067212
chr77819210378192189E067733
chr77819253178192949E0671161
chr77819798078198053E0676610
chr77819808578198334E0676715
chr77819998878200038E0678618
chr77820033978200389E0678969
chr77822329778223577E06731927
chr77822358578223760E06732215
chr77822377178223852E06732401
chr77823114778231374E06739777
chr77823675078237305E06745380
chr77823766678237716E06746296
chr77823824778238297E06746877
chr77814409578144205E068-47165
chr77814422078144396E068-46974
chr77814605778146111E068-45259
chr77816032878160378E068-30992
chr77817095778171007E068-20363
chr77817189778172029E068-19341
chr77817205178172101E068-19269
chr77817217878172237E068-19133
chr77817232778172669E068-18701
chr77819098978191476E0680
chr77819158278192072E068212
chr77819210378192189E068733
chr77819253178192949E0681161
chr77819540578195483E0684035
chr77819591778195959E0684547
chr77819669378196779E0685323
chr77819680478196858E0685434
chr77819698778197027E0685617
chr77819727078197598E0685900
chr77819771078197852E0686340
chr77819798078198053E0686610
chr77819976078199952E0688390
chr77819998878200038E0688618
chr77820033978200389E0688969
chr77820041078200460E0689040
chr77820047178200511E0689101
chr77820065478200778E0689284
chr77820789378208472E06816523
chr77822329778223577E06831927
chr77822358578223760E06832215
chr77823265378232791E06841283
chr77823642078236645E06845050
chr77823675078237305E06845380
chr77815545078155500E069-35870
chr77815967978160010E069-31360
chr77816032878160378E069-30992
chr77817053078170587E069-20783
chr77817095778171007E069-20363
chr77817167978171733E069-19637
chr77817189778172029E069-19341
chr77817205178172101E069-19269
chr77817217878172237E069-19133
chr77817232778172669E069-18701
chr77818671578186812E069-4558
chr77818685778187087E069-4283
chr77818762278187711E069-3659
chr77818777978188132E069-3238
chr77818953978189800E069-1570
chr77819017078190230E069-1140
chr77819098978191476E0690
chr77819158278192072E069212
chr77819210378192189E069733
chr77819253178192949E0691161
chr77819512978195179E0693759
chr77819540578195483E0694035
chr77819620578196316E0694835
chr77819669378196779E0695323
chr77819680478196858E0695434
chr77819698778197027E0695617
chr77819727078197598E0695900
chr77819771078197852E0696340
chr77819808578198334E0696715
chr77821593278216325E06924562
chr77821673178216775E06925361
chr77822329778223577E06931927
chr77822358578223760E06932215
chr77823675078237305E06945380
chr77814409578144205E070-47165
chr77814422078144396E070-46974
chr77817053078170587E070-20783
chr77817095778171007E070-20363
chr77819158278192072E070212
chr77819210378192189E070733
chr77819253178192949E0701161
chr77816032878160378E071-30992
chr77817053078170587E071-20783
chr77817095778171007E071-20363
chr77817167978171733E071-19637
chr77817189778172029E071-19341
chr77817205178172101E071-19269
chr77817217878172237E071-19133
chr77817232778172669E071-18701
chr77817307278173112E071-18258
chr77817873678178806E071-12564
chr77818685778187087E071-4283
chr77818762278187711E071-3659
chr77818777978188132E071-3238
chr77818953978189800E071-1570
chr77819017078190230E071-1140
chr77819061378190684E071-686
chr77819082978190909E071-461
chr77819098978191476E0710
chr77819158278192072E071212
chr77819210378192189E071733
chr77819540578195483E0714035
chr77819591778195959E0714547
chr77819620578196316E0714835
chr77819669378196779E0715323
chr77819771078197852E0716340
chr77819798078198053E0716610
chr77819808578198334E0716715
chr77819945578199508E0718085
chr77819976078199952E0718390
chr77819998878200038E0718618
chr77820033978200389E0718969
chr77820041078200460E0719040
chr77820047178200511E0719101
chr77820789378208472E07116523
chr77821773778218013E07126367
chr77823642078236645E07145050
chr77823675078237305E07145380
chr77815855578158646E072-32724
chr77815887578158971E072-32399
chr77815967978160010E072-31360
chr77816032878160378E072-30992
chr77817053078170587E072-20783
chr77817095778171007E072-20363
chr77817167978171733E072-19637
chr77817189778172029E072-19341
chr77817205178172101E072-19269
chr77817217878172237E072-19133
chr77817232778172669E072-18701
chr77817574978175793E072-15577
chr77817718178177231E072-14139
chr77818671578186812E072-4558
chr77818685778187087E072-4283
chr77818762278187711E072-3659
chr77818953978189800E072-1570
chr77819098978191476E0720
chr77819158278192072E072212
chr77819210378192189E072733
chr77819253178192949E0721161
chr77819540578195483E0724035
chr77819669378196779E0725323
chr77819680478196858E0725434
chr77819698778197027E0725617
chr77819727078197598E0725900
chr77819771078197852E0726340
chr77819798078198053E0726610
chr77819808578198334E0726715
chr77819976078199952E0728390
chr77819998878200038E0728618
chr77821747978217529E07226109
chr77822197678222102E07230606
chr77823374478233860E07242374
chr77814409578144205E073-47165
chr77814422078144396E073-46974
chr77814630978146360E073-45010
chr77819540578195483E0734035
chr77819976078199952E0738390
chr77819998878200038E0738618
chr77815855578158646E074-32724
chr77815887578158971E074-32399
chr77816032878160378E074-30992
chr77817053078170587E074-20783
chr77817095778171007E074-20363
chr77817167978171733E074-19637
chr77817189778172029E074-19341
chr77817205178172101E074-19269
chr77817217878172237E074-19133
chr77817232778172669E074-18701
chr77818671578186812E074-4558
chr77818685778187087E074-4283
chr77819017078190230E074-1140
chr77819061378190684E074-686
chr77819082978190909E074-461
chr77819098978191476E0740
chr77819158278192072E074212
chr77819210378192189E074733
chr77819540578195483E0744035
chr77819591778195959E0744547
chr77819856978198619E0747199
chr77819870778198757E0747337
chr77819911178199161E0747741
chr77819945578199508E0748085
chr77819976078199952E0748390
chr77819998878200038E0748618
chr77821500878215094E07423638
chr77821526678215379E07423896
chr77821540278215512E07424032
chr77821747978217529E07426109
chr77821773778218013E07426367
chr77822292978223056E07431559
chr77822329778223577E07431927
chr77822358578223760E07432215
chr77822377178223852E07432401
chr77823114778231374E07439777
chr77823675078237305E07445380
chr77818953978189800E081-1570
chr77819098978191476E0810
chr77819158278192072E081212
chr77819210378192189E081733
chr77819253178192949E0811161
chr77819098978191476E0820
chr77819158278192072E082212
chr77819210378192189E082733
chr77819253178192949E0821161