rs13308578

Homo sapiens
C>T
MAGI2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0416 (12380/29740,GnomAD)
T=0410 (11959/29118,TOPMED)
T=0365 (1830/5008,1000G)
T=0465 (1792/3854,ALSPAC)
T=0463 (1716/3708,TWINSUK)
chr7:78779243 (GRCh38.p7) (7q21.11)
AD
GWASdb2
2   publication(s)
See rs on genome
130 Enhancers around
39 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.78779243C>T
GRCh37.p13 chr 7NC_000007.13:g.78408559C>T
MAGI2 RefSeqGeneNG_011487.1:g.679332G>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 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 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 X9XM_011516719.2:c.N/AGenic Upstream Transcript Variant
MAGI2 transcript variant X10XM_011516720.2:c.N/AGenic Upstream Transcript 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
MAGI2 transcript variant X11XM_017012847.1:c.N/AGenic Upstream Transcript Variant
MAGI2 transcript variant X12XM_017012848.1:c.N/AGenic Upstream Transcript Variant
MAGI2 transcript variant X13XM_017012849.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.691T=0.309
1000GenomesAmericanSub694C=0.640T=0.360
1000GenomesEast AsianSub1008C=0.578T=0.422
1000GenomesEuropeSub1006C=0.526T=0.474
1000GenomesGlobalStudy-wide5008C=0.635T=0.365
1000GenomesSouth AsianSub978C=0.720T=0.280
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.535T=0.465
The Genome Aggregation DatabaseAfricanSub8680C=0.666T=0.334
The Genome Aggregation DatabaseAmericanSub834C=0.590T=0.410
The Genome Aggregation DatabaseEast AsianSub1606C=0.558T=0.442
The Genome Aggregation DatabaseEuropeSub18320C=0.547T=0.452
The Genome Aggregation DatabaseGlobalStudy-wide29740C=0.583T=0.416
The Genome Aggregation DatabaseOtherSub300C=0.540T=0.460
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.589T=0.410
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.537T=0.463
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
20858243Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia.Wang LSBMC Med Genet

P-Value

SNP ID p-value Traits Study
rs133085780.000403alcohol dependence20201924

eQTL of rs13308578 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 rs13308578 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 )
chr77836330678363366E067-45193
chr77836341278363570E067-44989
chr77836365278363732E067-44827
chr77836671078366778E067-41781
chr77837844878378723E067-29836
chr77837874378379165E067-29394
chr77838092578380985E067-27574
chr77839422778394290E067-14269
chr77840105878401167E067-7392
chr77840171278402135E067-6424
chr77841523578415315E0676676
chr77841548478415598E0676925
chr77841583478415933E0677275
chr77836341278363570E068-44989
chr77836365278363732E068-44827
chr77836380978364197E068-44362
chr77836622978366364E068-42195
chr77836671078366778E068-41781
chr77837530478375354E068-33205
chr77837700078377175E068-31384
chr77838070878380792E068-27767
chr77839286478392942E068-15617
chr77839453978394651E068-13908
chr77839522978395566E068-12993
chr77839565978395709E068-12850
chr77839579878395893E068-12666
chr77840724978407491E068-1068
chr77840762378407673E068-886
chr77836330678363366E069-45193
chr77836341278363570E069-44989
chr77836365278363732E069-44827
chr77836380978364197E069-44362
chr77837456478374750E069-33809
chr77837530478375354E069-33205
chr77837536678375418E069-33141
chr77837844878378723E069-29836
chr77837874378379165E069-29394
chr77839522978395566E069-12993
chr77839565978395709E069-12850
chr77839579878395893E069-12666
chr77840105878401167E069-7392
chr77840171278402135E069-6424
chr77836622978366364E070-42195
chr77840105878401167E070-7392
chr77836341278363570E071-44989
chr77836365278363732E071-44827
chr77836380978364197E071-44362
chr77837536678375418E071-33141
chr77837549378375560E071-32999
chr77837562278375702E071-32857
chr77837570678375768E071-32791
chr77837578478375955E071-32604
chr77837844878378723E071-29836
chr77837874378379165E071-29394
chr77838092578380985E071-27574
chr77839360678393673E071-14886
chr77839384478393922E071-14637
chr77839402678394175E071-14384
chr77839422778394290E071-14269
chr77839453978394651E071-13908
chr77839522978395566E071-12993
chr77839565978395709E071-12850
chr77839579878395893E071-12666
chr77839748378397601E071-10958
chr77840658378406627E071-1932
chr77840724978407491E071-1068
chr77836330678363366E072-45193
chr77836341278363570E072-44989
chr77836380978364197E072-44362
chr77836597778366118E072-42441
chr77837530478375354E072-33205
chr77837536678375418E072-33141
chr77837578478375955E072-32604
chr77837844878378723E072-29836
chr77838786678387982E072-20577
chr77840171278402135E072-6424
chr77840724978407491E072-1068
chr77840762378407673E072-886
chr77838092578380985E073-27574
chr77839360678393673E073-14886
chr77839384478393922E073-14637
chr77839402678394175E073-14384
chr77839522978395566E073-12993
chr77836341278363570E074-44989
chr77836365278363732E074-44827
chr77836380978364197E074-44362
chr77837456478374750E074-33809
chr77837675978376809E074-31750
chr77837700078377175E074-31384
chr77837844878378723E074-29836
chr77837874378379165E074-29394
chr77838070878380792E074-27767
chr77838092578380985E074-27574
chr77839422778394290E074-14269
chr77839453978394651E074-13908
chr77839522978395566E074-12993
chr77839748378397601E074-10958
chr77840105878401167E074-7392
chr77840658378406627E074-1932
chr77840724978407491E074-1068
chr77837051378370638E081-37921
chr77837064478370694E081-37865
chr77837090678370977E081-37582
chr77837536678375418E081-33141
chr77837549378375560E081-32999
chr77837562278375702E081-32857
chr77837570678375768E081-32791
chr77837578478375955E081-32604
chr77837675978376809E081-31750
chr77837700078377175E081-31384
chr77837844878378723E081-29836
chr77839422778394290E081-14269
chr77839522978395566E081-12993
chr77839565978395709E081-12850
chr77839579878395893E081-12666
chr77840105878401167E081-7392
chr77840171278402135E081-6424
chr77840214978402197E081-6362
chr77840248478402534E081-6025
chr77837456478374750E082-33809
chr77837578478375955E082-32604
chr77837700078377175E082-31384
chr77837844878378723E082-29836
chr77839384478393922E082-14637
chr77839402678394175E082-14384
chr77839422778394290E082-14269
chr77840105878401167E082-7392
chr77840263378402794E082-5765
chr77840282578402916E082-5643
chr77840302278403072E082-5487










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr77839799478398044E067-10515
chr77839820978398588E067-9971
chr77839863278399543E067-9016
chr77839961178401034E067-7525
chr77839799478398044E068-10515
chr77839820978398588E068-9971
chr77839863278399543E068-9016
chr77839961178401034E068-7525
chr77839799478398044E069-10515
chr77839820978398588E069-9971
chr77839863278399543E069-9016
chr77839961178401034E069-7525
chr77839799478398044E070-10515
chr77839820978398588E070-9971
chr77839863278399543E070-9016
chr77839961178401034E070-7525
chr77839799478398044E071-10515
chr77839820978398588E071-9971
chr77839863278399543E071-9016
chr77839961178401034E071-7525
chr77839799478398044E072-10515
chr77839820978398588E072-9971
chr77839863278399543E072-9016
chr77839961178401034E072-7525
chr77839799478398044E073-10515
chr77839820978398588E073-9971
chr77839863278399543E073-9016
chr77839961178401034E073-7525
chr77839820978398588E074-9971
chr77839863278399543E074-9016
chr77839961178401034E074-7525
chr77839799478398044E081-10515
chr77839820978398588E081-9971
chr77839863278399543E081-9016
chr77839961178401034E081-7525
chr77839799478398044E082-10515
chr77839820978398588E082-9971
chr77839863278399543E082-9016
chr77839961178401034E082-7525