rs3823787

Homo sapiens
T>C
MAGI2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0364 (10869/29798,GnomAD)
C=0373 (10886/29118,TOPMED)
C=0337 (1689/5008,1000G)
C=0425 (1638/3854,ALSPAC)
C=0405 (1501/3708,TWINSUK)
chr7:78143815 (GRCh38.p7) (7q21.11)
ND
GWASdb2
1   publication(s)
See rs on genome
276 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.78143815T>C
GRCh37.p13 chr 7NC_000007.13:g.77773132T>C
MAGI2 RefSeqGeneNG_011487.1:g.1314759A>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 X17XM_011516726.2:c.N/AIntron Variant
MAGI2 transcript variant X19XM_011516728.1: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 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

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.651C=0.349
1000GenomesAmericanSub694T=0.600C=0.400
1000GenomesEast AsianSub1008T=0.748C=0.252
1000GenomesEuropeSub1006T=0.604C=0.396
1000GenomesGlobalStudy-wide5008T=0.663C=0.337
1000GenomesSouth AsianSub978T=0.700C=0.300
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.575C=0.425
The Genome Aggregation DatabaseAfricanSub8704T=0.646C=0.354
The Genome Aggregation DatabaseAmericanSub834T=0.590C=0.410
The Genome Aggregation DatabaseEast AsianSub1596T=0.722C=0.278
The Genome Aggregation DatabaseEuropeSub18364T=0.624C=0.375
The Genome Aggregation DatabaseGlobalStudy-wide29798T=0.635C=0.364
The Genome Aggregation DatabaseOtherSub300T=0.640C=0.360
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.626C=0.373
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.595C=0.405
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs38237870.000631nicotine smoking19268276

eQTL of rs3823787 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 rs3823787 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 )
chr77775489977754949E067-18183
chr77775523977755517E067-17615
chr77776751577767559E067-5573
chr77776813177768181E067-4951
chr77776819077768332E067-4800
chr77776859377769064E067-4068
chr77776940877769955E067-3177
chr77777021077770344E067-2788
chr77777050177770652E067-2480
chr77777077577771192E067-1940
chr77777124277771497E067-1635
chr77778046377781207E0677331
chr77779037377790413E06717241
chr77779875477798895E06725622
chr77779895377798993E06725821
chr77779901577799143E06725883
chr77780064177800766E06727509
chr77780097777801030E06727845
chr77780104377801099E06727911
chr77780132777802327E06728195
chr77780241577802495E06729283
chr77780264077802751E06729508
chr77782080677821015E06747674
chr77782132177821439E06748189
chr77782147877821568E06748346
chr77782192777821977E06748795
chr77782205877822232E06748926
chr77774036177740544E068-32588
chr77774058977741250E068-31882
chr77775355977753862E068-19270
chr77775489977754949E068-18183
chr77775523977755517E068-17615
chr77776859377769064E068-4068
chr77776940877769955E068-3177
chr77777021077770344E068-2788
chr77777050177770652E068-2480
chr77777077577771192E068-1940
chr77777124277771497E068-1635
chr77777169877771803E068-1329
chr77777680477777149E0683672
chr77777725277777342E0684120
chr77777897377779023E0685841
chr77778027077780320E0687138
chr77778046377781207E0687331
chr77778144677781718E0688314
chr77778885477789626E06815722
chr77779347077793520E06820338
chr77779408877794174E06820956
chr77779475077794842E06821618
chr77780097777801030E06827845
chr77780104377801099E06827911
chr77780132777802327E06828195
chr77780241577802495E06829283
chr77780428777804337E06831155
chr77780446277804512E06831330
chr77780469077804740E06831558
chr77780475877804939E06831626
chr77780502877805357E06831896
chr77780536677805490E06832234
chr77780553377805848E06832401
chr77780589977805938E06832767
chr77780955877809660E06836426
chr77780972077809764E06836588
chr77782192777821977E06848795
chr77782205877822232E06848926
chr77782272477822789E06849592
chr77774001377740309E069-32823
chr77774036177740544E069-32588
chr77774058977741250E069-31882
chr77774133577741481E069-31651
chr77774172677741797E069-31335
chr77775355977753862E069-19270
chr77775489977754949E069-18183
chr77775523977755517E069-17615
chr77775989077760187E069-12945
chr77776020077760421E069-12711
chr77776751577767559E069-5573
chr77776756677767628E069-5504
chr77776764477767688E069-5444
chr77776813177768181E069-4951
chr77776819077768332E069-4800
chr77776859377769064E069-4068
chr77777050177770652E069-2480
chr77777077577771192E069-1940
chr77777124277771497E069-1635
chr77777169877771803E069-1329
chr77777190277772009E069-1123
chr77777208677772136E069-996
chr77778027077780320E0697138
chr77778046377781207E0697331
chr77779385877794028E06920726
chr77780097777801030E06927845
chr77780104377801099E06927911
chr77780132777802327E06928195
chr77780241577802495E06929283
chr77780264077802751E06929508
chr77780312377803247E06929991
chr77780502877805357E06931896
chr77780536677805490E06932234
chr77780553377805848E06932401
chr77780858077809044E06935448
chr77782080677821015E06947674
chr77782132177821439E06948189
chr77774001377740309E070-32823
chr77774036177740544E070-32588
chr77775827977758337E070-14795
chr77778046377781207E0707331
chr77780132777802327E07028195
chr77774058977741250E071-31882
chr77774133577741481E071-31651
chr77774376977743883E071-29249
chr77774413677744186E071-28946
chr77774424677744296E071-28836
chr77774437277744412E071-28720
chr77775355977753862E071-19270
chr77775489977754949E071-18183
chr77775523977755517E071-17615
chr77775600977756077E071-17055
chr77776020077760421E071-12711
chr77776859377769064E071-4068
chr77776940877769955E071-3177
chr77777021077770344E071-2788
chr77778027077780320E0717138
chr77778046377781207E0717331
chr77778144677781718E0718314
chr77780064177800766E07127509
chr77780097777801030E07127845
chr77780104377801099E07127911
chr77780132777802327E07128195
chr77780241577802495E07129283
chr77780264077802751E07129508
chr77780475877804939E07131626
chr77780502877805357E07131896
chr77780536677805490E07132234
chr77780553377805848E07132401
chr77780858077809044E07135448
chr77782080677821015E07147674
chr77782132177821439E07148189
chr77774001377740309E072-32823
chr77774036177740544E072-32588
chr77774058977741250E072-31882
chr77774133577741481E072-31651
chr77775315977753219E072-19913
chr77775325477753382E072-19750
chr77775355977753862E072-19270
chr77775489977754949E072-18183
chr77775523977755517E072-17615
chr77775989077760187E072-12945
chr77776020077760421E072-12711
chr77776859377769064E072-4068
chr77776940877769955E072-3177
chr77777021077770344E072-2788
chr77777050177770652E072-2480
chr77777077577771192E072-1940
chr77777124277771497E072-1635
chr77777169877771803E072-1329
chr77778046377781207E0727331
chr77778885477789626E07215722
chr77779084877790955E07217716
chr77779113177791433E07217999
chr77779385877794028E07220726
chr77779475077794842E07221618
chr77779487677795114E07221744
chr77779528177795520E07222149
chr77779875477798895E07225622
chr77779895377798993E07225821
chr77779901577799143E07225883
chr77779926577799339E07226133
chr77780064177800766E07227509
chr77780097777801030E07227845
chr77780104377801099E07227911
chr77780132777802327E07228195
chr77780241577802495E07229283
chr77780264077802751E07229508
chr77780858077809044E07235448
chr77782000777820084E07246875
chr77782080677821015E07247674
chr77782132177821439E07248189
chr77782147877821568E07248346
chr77782192777821977E07248795
chr77782205877822232E07248926
chr77782272477822789E07249592
chr77774058977741250E073-31882
chr77776020077760421E073-12711
chr77776859377769064E073-4068
chr77777124277771497E073-1635
chr77779037377790413E07317241
chr77779475077794842E07321618
chr77780064177800766E07327509
chr77780097777801030E07327845
chr77780104377801099E07327911
chr77780132777802327E07328195
chr77780241577802495E07329283
chr77780264077802751E07329508
chr77780955877809660E07336426
chr77780972077809764E07336588
chr77782132177821439E07348189
chr77782147877821568E07348346
chr77782192777821977E07348795
chr77782205877822232E07348926
chr77774001377740309E074-32823
chr77774036177740544E074-32588
chr77774058977741250E074-31882
chr77774133577741481E074-31651
chr77774376977743883E074-29249
chr77774413677744186E074-28946
chr77774424677744296E074-28836
chr77774437277744412E074-28720
chr77775355977753862E074-19270
chr77775523977755517E074-17615
chr77776020077760421E074-12711
chr77776859377769064E074-4068
chr77776940877769955E074-3177
chr77777124277771497E074-1635
chr77777169877771803E074-1329
chr77777190277772009E074-1123
chr77778027077780320E0747138
chr77778046377781207E0747331
chr77778144677781718E0748314
chr77779347077793520E07420338
chr77779385877794028E07420726
chr77779901577799143E07425883
chr77779926577799339E07426133
chr77780064177800766E07427509
chr77780097777801030E07427845
chr77780104377801099E07427911
chr77780132777802327E07428195
chr77780241577802495E07429283
chr77780394577804053E07430813
chr77780428777804337E07431155
chr77780446277804512E07431330
chr77780469077804740E07431558
chr77780475877804939E07431626
chr77780858077809044E07435448
chr77782080677821015E07447674
chr77782132177821439E07448189
chr77782147877821568E07448346
chr77782192777821977E07448795
chr77782205877822232E07448926
chr77782272477822789E07449592
chr77773769077737877E081-35255
chr77774001377740309E081-32823
chr77774036177740544E081-32588
chr77774058977741250E081-31882
chr77774133577741481E081-31651
chr77775355977753862E081-19270
chr77775827977758337E081-14795
chr77776813177768181E081-4951
chr77776819077768332E081-4800
chr77776859377769064E081-4068
chr77776940877769955E081-3177
chr77777021077770344E081-2788
chr77777050177770652E081-2480
chr77777077577771192E081-1940
chr77777124277771497E081-1635
chr77777169877771803E081-1329
chr77777190277772009E081-1123
chr77779475077794842E08121618
chr77779487677795114E08121744
chr77779528177795520E08122149
chr77779569777795747E08122565
chr77774036177740544E082-32588
chr77774058977741250E082-31882
chr77776859377769064E082-4068
chr77776940877769955E082-3177
chr77777021077770344E082-2788
chr77777050177770652E082-2480
chr77777077577771192E082-1940
chr77777124277771497E082-1635
chr77777658077776620E0823448
chr77779385877794028E08220726
chr77779408877794174E08220956
chr77779475077794842E08221618
chr77779487677795114E08221744
chr77779598477796128E08222852
chr77779623677796290E08223104