rs607395

Homo sapiens
G>A
MAML2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0284 (8502/29940,GnomAD)
A=0293 (8554/29118,TOPMED)
A=0327 (1640/5008,1000G)
A=0268 (1031/3854,ALSPAC)
A=0280 (1037/3708,TWINSUK)
chr11:96023248 (GRCh38.p7) (11q21)
AD
GWASdb2
1   publication(s)
See rs on genome
196 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.96023248G>A
GRCh37.p13 chr 11NC_000011.9:g.95756412G>A

Gene: MAML2, mastermind like transcriptional coactivator 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
MAML2 transcriptNM_032427.3:c.N/AIntron Variant
MAML2 transcript variant X1XM_011543023.2:c.N/AIntron Variant
MAML2 transcript variant X2XM_011543024.2:c.N/AIntron Variant
MAML2 transcript variant X3XM_011543025.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.680A=0.320
1000GenomesAmericanSub694G=0.780A=0.220
1000GenomesEast AsianSub1008G=0.649A=0.351
1000GenomesEuropeSub1006G=0.727A=0.273
1000GenomesGlobalStudy-wide5008G=0.673A=0.327
1000GenomesSouth AsianSub978G=0.550A=0.450
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.732A=0.268
The Genome Aggregation DatabaseAfricanSub8706G=0.690A=0.310
The Genome Aggregation DatabaseAmericanSub838G=0.730A=0.270
The Genome Aggregation DatabaseEast AsianSub1614G=0.641A=0.359
The Genome Aggregation DatabaseEuropeSub18480G=0.733A=0.266
The Genome Aggregation DatabaseGlobalStudy-wide29940G=0.716A=0.284
The Genome Aggregation DatabaseOtherSub302G=0.760A=0.240
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.706A=0.293
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.720A=0.280
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs6073950.000318alcohol dependence21314694

eQTL of rs607395 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 rs607395 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 )
chr119573280195733686E067-22726
chr119573372295733803E067-22609
chr119574511495746367E067-10045
chr119574646695746526E067-9886
chr119577964695779804E06723234
chr119578801895789144E06731606
chr119572233795722568E068-33844
chr119572943795729544E068-26868
chr119572960195729980E068-26432
chr119573247595732540E068-23872
chr119573263995732746E068-23666
chr119573372295733803E068-22609
chr119573383795734161E068-22251
chr119573417295734725E068-21687
chr119573478695734836E068-21576
chr119573491295734964E068-21448
chr119574511495746367E068-10045
chr119574646695746526E068-9886
chr119574658495748117E068-8295
chr119575633195756950E0680
chr119576677895767345E06810366
chr119576760395767956E06811191
chr119576800795768072E06811595
chr119576812195768171E06811709
chr119576817895768238E06811766
chr119576832195768458E06811909
chr119576853995768951E06812127
chr119576901695769109E06812604
chr119576937495769548E06812962
chr119576960595769708E06813193
chr119577050995771857E06814097
chr119577656995776745E06820157
chr119577674995777175E06820337
chr119577842995778556E06822017
chr119577877095778820E06822358
chr119577889095779641E06822478
chr119577964695779804E06823234
chr119577997395780029E06823561
chr119578003795780220E06823625
chr119578025095780351E06823838
chr119578801895789144E06831606
chr119578916495789537E06832752
chr119579359395793633E06837181
chr119579370695793760E06837294
chr119579388095793951E06837468
chr119579409695794609E06837684
chr119579606995796222E06839657
chr119579626095796448E06839848
chr119579648795796653E06840075
chr119579865495798937E06842242
chr119579895795799027E06842545
chr119579916595799205E06842753
chr119579923995799299E06842827
chr119579946495799514E06843052
chr119580015495801031E06843742
chr119574360195743651E069-12761
chr119574378995743862E069-12550
chr119574471495744967E069-11445
chr119574511495746367E069-10045
chr119576832195768458E06911909
chr119576853995768951E06912127
chr119576901695769109E06912604
chr119577877095778820E06922358
chr119577889095779641E06922478
chr119577964695779804E06923234
chr119577997395780029E06923561
chr119578003795780220E06923625
chr119578801895789144E06931606
chr119578916495789537E06932752
chr119580015495801031E06943742
chr119573280195733686E070-22726
chr119573372295733803E070-22609
chr119574471495744967E070-11445
chr119574511495746367E070-10045
chr119574646695746526E070-9886
chr119575633195756950E0700
chr119577050995771857E07014097
chr119577964695779804E07023234
chr119577997395780029E07023561
chr119578003795780220E07023625
chr119578752095787822E07031108
chr119578790095787950E07031488
chr119578795495787998E07031542
chr119573383795734161E071-22251
chr119573417295734725E071-21687
chr119573478695734836E071-21576
chr119573491295734964E071-21448
chr119574511495746367E071-10045
chr119574646695746526E071-9886
chr119574658495748117E071-8295
chr119576760395767956E07111191
chr119576800795768072E07111595
chr119576812195768171E07111709
chr119576817895768238E07111766
chr119576832195768458E07111909
chr119576853995768951E07112127
chr119576901695769109E07112604
chr119576937495769548E07112962
chr119576960595769708E07113193
chr119577006395770313E07113651
chr119577050995771857E07114097
chr119577877095778820E07122358
chr119577964695779804E07123234
chr119577997395780029E07123561
chr119578003795780220E07123625
chr119578025095780351E07123838
chr119578597495787186E07129562
chr119578801895789144E07131606
chr119579865495798937E07142242
chr119579895795799027E07142545
chr119579916595799205E07142753
chr119579923995799299E07142827
chr119579946495799514E07143052
chr119580015495801031E07143742
chr119580105395801480E07144641
chr119571074495711055E072-45357
chr119573247595732540E072-23872
chr119573263995732746E072-23666
chr119573372295733803E072-22609
chr119574511495746367E072-10045
chr119576901695769109E07212604
chr119577842995778556E07222017
chr119577877095778820E07222358
chr119577889095779641E07222478
chr119577964695779804E07223234
chr119577997395780029E07223561
chr119578003795780220E07223625
chr119578025095780351E07223838
chr119578752095787822E07231108
chr119578790095787950E07231488
chr119578795495787998E07231542
chr119578801895789144E07231606
chr119578916495789537E07232752
chr119579895795799027E07242545
chr119579916595799205E07242753
chr119579923995799299E07242827
chr119579946495799514E07243052
chr119580015495801031E07243742
chr119572438495724501E073-31911
chr119572453595725181E073-31231
chr119574511495746367E073-10045
chr119576901695769109E07312604
chr119576937495769548E07312962
chr119577889095779641E07322478
chr119577964695779804E07323234
chr119578566895785729E07329256
chr119578573895785818E07329326
chr119578588395785953E07329471
chr119579916595799205E07342753
chr119579923995799299E07342827
chr119579946495799514E07343052
chr119580015495801031E07343742
chr119571074495711055E074-45357
chr119571137395711484E074-44928
chr119572233795722568E074-33844
chr119573263995732746E074-23666
chr119573372295733803E074-22609
chr119573383795734161E074-22251
chr119573417295734725E074-21687
chr119573478695734836E074-21576
chr119573491295734964E074-21448
chr119573505495735104E074-21308
chr119574438395744433E074-11979
chr119574471495744967E074-11445
chr119574511495746367E074-10045
chr119574646695746526E074-9886
chr119574658495748117E074-8295
chr119576853995768951E07412127
chr119576901695769109E07412604
chr119576937495769548E07412962
chr119576960595769708E07413193
chr119577006395770313E07413651
chr119577050995771857E07414097
chr119577842995778556E07422017
chr119577889095779641E07422478
chr119577964695779804E07423234
chr119577997395780029E07423561
chr119578003795780220E07423625
chr119578025095780351E07423838
chr119578801895789144E07431606
chr119579409695794609E07437684
chr119579865495798937E07442242
chr119579895795799027E07442545
chr119579916595799205E07442753
chr119579923995799299E07442827
chr119579946495799514E07443052
chr119580015495801031E07443742
chr119580105395801480E07444641
chr119573280195733686E081-22726
chr119577877095778820E08122358
chr119577889095779641E08122478
chr119573280195733686E082-22726
chr119573372295733803E082-22609
chr119577877095778820E08222358
chr119577889095779641E08222478
chr119577964695779804E08223234