rs512797

Homo sapiens
G>A
ARRB1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0141 (4251/29950,GnomAD)
A=0109 (3200/29118,TOPMED)
A=0060 (302/5008,1000G)
A=0184 (710/3854,ALSPAC)
A=0171 (635/3708,TWINSUK)
chr11:75285037 (GRCh38.p7) (11q13.4)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.75285037G>A
GRCh37.p13 chr 11NC_000011.9:g.74996081G>A
ARRB1 RefSeqGeneNG_028118.1:g.71795C>T

Gene: ARRB1, arrestin beta 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ARRB1 transcript variant 1NM_004041.4:c.N/AIntron Variant
ARRB1 transcript variant 2NM_020251.3:c.N/AIntron Variant
ARRB1 transcript variant X3XM_011545034.2:c.N/AIntron Variant
ARRB1 transcript variant X5XM_011545035.2:c.N/AIntron Variant
ARRB1 transcript variant X1XM_017017750.1:c.N/AIntron Variant
ARRB1 transcript variant X2XM_017017751.1:c.N/AIntron Variant
ARRB1 transcript variant X4XM_017017752.1:c.N/AIntron Variant
ARRB1 transcript variant X6XM_017017753.1:c.N/AIntron Variant
ARRB1 transcript variant X7XM_017017754.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.989A=0.011
1000GenomesAmericanSub694G=0.920A=0.080
1000GenomesEast AsianSub1008G=0.993A=0.007
1000GenomesEuropeSub1006G=0.843A=0.157
1000GenomesGlobalStudy-wide5008G=0.940A=0.060
1000GenomesSouth AsianSub978G=0.930A=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.816A=0.184
The Genome Aggregation DatabaseAfricanSub8722G=0.963A=0.037
The Genome Aggregation DatabaseAmericanSub838G=0.860A=0.140
The Genome Aggregation DatabaseEast AsianSub1620G=0.997A=0.003
The Genome Aggregation DatabaseEuropeSub18468G=0.795A=0.204
The Genome Aggregation DatabaseGlobalStudy-wide29950G=0.858A=0.141
The Genome Aggregation DatabaseOtherSub302G=0.880A=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.890A=0.109
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.829A=0.171
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
rs5127970.000993alcohol dependence21314694

eQTL of rs512797 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 rs512797 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 )
chr117497085574971000E067-25081
chr117497105774971149E067-24932
chr117497120774971441E067-24640
chr117497145374971599E067-24482
chr117497162274971714E067-24367
chr117497175174972934E067-23147
chr117499094974992466E067-3615
chr117499622674996344E067145
chr117499690374996999E067822
chr117499998375000078E0673902
chr117500009075000313E0674009
chr117500047275000545E0674391
chr117500058975000747E0674508
chr117501209975013154E06716018
chr117501317675013249E06717095
chr117501328075013372E06717199
chr117501354075013632E06717459
chr117501365475013742E06717573
chr117501378275013849E06717701
chr117501385875013921E06717777
chr117501430875014416E06718227
chr117501444675014531E06718365
chr117501467375014874E06718592
chr117501563275015754E06719551
chr117501609575016244E06720014
chr117501632175016392E06720240
chr117501652075016741E06720439
chr117501708775017137E06721006
chr117501717375017223E06721092
chr117501743175017640E06721350
chr117501769075017845E06721609
chr117501793275017993E06721851
chr117501807875018136E06721997
chr117501821975018317E06722138
chr117501833075018370E06722249
chr117501838775018487E06722306
chr117501850675018601E06722425
chr117501869975018891E06722618
chr117501893275019000E06722851
chr117502145175021501E06725370
chr117502165275021720E06725571
chr117502180375021872E06725722
chr117502188975021973E06725808
chr117502201675022073E06725935
chr117502243475022479E06726353
chr117502406375024119E06727982
chr117502440975025644E06728328
chr117502595275025998E06729871
chr117502601075026060E06729929
chr117502620475026248E06730123
chr117502852175028658E06732440
chr117502867875029141E06732597
chr117503111675031206E06735035
chr117503127875031473E06735197
chr117503159075031688E06735509
chr117503173075031780E06735649
chr117503184075031894E06735759
chr117503190275031973E06735821
chr117503207575032169E06735994
chr117503681375037729E06740732
chr117503921775039347E06743136
chr117503938075039436E06743299
chr117503945275040358E06743371
chr117504041675040718E06744335
chr117504072875040811E06744647
chr117504094775041031E06744866
chr117504106975041957E06744988
chr117504196975042137E06745888
chr117504422175044321E06748140
chr117504435975044487E06748278
chr117504450275044602E06748421
chr117504462275045074E06748541
chr117497120774971441E068-24640
chr117497145374971599E068-24482
chr117497162274971714E068-24367
chr117499094974992466E068-3615
chr117499998375000078E0683902
chr117500009075000313E0684009
chr117500047275000545E0684391
chr117500058975000747E0684508
chr117501209975013154E06816018
chr117501317675013249E06817095
chr117501328075013372E06817199
chr117501354075013632E06817459
chr117501365475013742E06817573
chr117501378275013849E06817701
chr117501563275015754E06819551
chr117501609575016244E06820014
chr117501632175016392E06820240
chr117501652075016741E06820439
chr117501708775017137E06821006
chr117501717375017223E06821092
chr117501743175017640E06821350
chr117501769075017845E06821609
chr117501793275017993E06821851
chr117501807875018136E06821997
chr117501821975018317E06822138
chr117501833075018370E06822249
chr117501893275019000E06822851
chr117502165275021720E06825571
chr117502379875023878E06827717
chr117502406375024119E06827982
chr117502440975025644E06828328
chr117502620475026248E06830123
chr117502822475028286E06832143
chr117502832375028373E06832242
chr117502837675028504E06832295
chr117502852175028658E06832440
chr117502867875029141E06832597
chr117502992375030757E06833842
chr117503095775031007E06834876
chr117503111675031206E06835035
chr117503127875031473E06835197
chr117503159075031688E06835509
chr117503173075031780E06835649
chr117503184075031894E06835759
chr117503190275031973E06835821
chr117503508975035714E06839008
chr117503681375037729E06840732
chr117503921775039347E06843136
chr117503938075039436E06843299
chr117503945275040358E06843371
chr117504041675040718E06844335
chr117504072875040811E06844647
chr117504094775041031E06844866
chr117504106975041957E06844988
chr117504422175044321E06848140
chr117504435975044487E06848278
chr117504450275044602E06848421
chr117504462275045074E06848541
chr117497105774971149E069-24932
chr117497120774971441E069-24640
chr117497145374971599E069-24482
chr117497162274971714E069-24367
chr117497175174972934E069-23147
chr117499094974992466E069-3615
chr117499622674996344E069145
chr117499690374996999E069822
chr117499998375000078E0693902
chr117500009075000313E0694009
chr117500047275000545E0694391
chr117500058975000747E0694508
chr117500099075001335E0694909
chr117500341875003580E0697337
chr117500372875003778E0697647
chr117500414075004321E0698059
chr117500449375004624E0698412
chr117500469975004749E0698618
chr117500483975004889E0698758
chr117501209975013154E06916018
chr117501317675013249E06917095
chr117501328075013372E06917199
chr117501354075013632E06917459
chr117501365475013742E06917573
chr117501378275013849E06917701
chr117501385875013921E06917777
chr117501502875015170E06918947
chr117501563275015754E06919551
chr117501609575016244E06920014
chr117501632175016392E06920240
chr117501652075016741E06920439
chr117501708775017137E06921006
chr117501717375017223E06921092
chr117501743175017640E06921350
chr117501769075017845E06921609
chr117501793275017993E06921851
chr117501807875018136E06921997
chr117501821975018317E06922138
chr117501833075018370E06922249
chr117501838775018487E06922306
chr117501850675018601E06922425
chr117501869975018891E06922618
chr117501893275019000E06922851
chr117502052175020561E06924440
chr117502065175020728E06924570
chr117502087675020926E06924795
chr117502113975021181E06925058
chr117502126475021319E06925183
chr117502134375021397E06925262
chr117502145175021501E06925370
chr117502165275021720E06925571
chr117502180375021872E06925722
chr117502188975021973E06925808
chr117502201675022073E06925935
chr117502243475022479E06926353
chr117502379875023878E06927717
chr117502406375024119E06927982
chr117502440975025644E06928328
chr117502837675028504E06932295
chr117502852175028658E06932440
chr117503095775031007E06934876
chr117503111675031206E06935035
chr117503127875031473E06935197
chr117503159075031688E06935509
chr117503173075031780E06935649
chr117503184075031894E06935759
chr117503190275031973E06935821
chr117503681375037729E06940732
chr117503921775039347E06943136
chr117503938075039436E06943299
chr117503945275040358E06943371
chr117504041675040718E06944335
chr117504072875040811E06944647
chr117504094775041031E06944866
chr117504106975041957E06944988
chr117504196975042137E06945888
chr117504450275044602E06948421
chr117504462275045074E06948541
chr117504106975041957E07044988
chr117504196975042137E07045888
chr117497120774971441E071-24640
chr117497145374971599E071-24482
chr117497162274971714E071-24367
chr117497175174972934E071-23147
chr117499094974992466E071-3615
chr117499690374996999E071822
chr117499998375000078E0713902
chr117500009075000313E0714009
chr117500047275000545E0714391
chr117500058975000747E0714508
chr117501209975013154E07116018
chr117501317675013249E07117095
chr117501328075013372E07117199
chr117501354075013632E07117459
chr117501365475013742E07117573
chr117501378275013849E07117701
chr117501385875013921E07117777
chr117501430875014416E07118227
chr117501444675014531E07118365
chr117501467375014874E07118592
chr117501502875015170E07118947
chr117501563275015754E07119551
chr117501609575016244E07120014
chr117501632175016392E07120240
chr117501652075016741E07120439
chr117501708775017137E07121006
chr117501717375017223E07121092
chr117501743175017640E07121350
chr117501769075017845E07121609
chr117501793275017993E07121851
chr117501807875018136E07121997
chr117501821975018317E07122138
chr117501833075018370E07122249
chr117501838775018487E07122306
chr117501850675018601E07122425
chr117501869975018891E07122618
chr117501893275019000E07122851
chr117502165275021720E07125571
chr117502180375021872E07125722
chr117502188975021973E07125808
chr117502201675022073E07125935
chr117502243475022479E07126353
chr117502354175023643E07127460
chr117502379875023878E07127717
chr117502406375024119E07127982
chr117502440975025644E07128328
chr117502822475028286E07132143
chr117502832375028373E07132242
chr117502837675028504E07132295
chr117502852175028658E07132440
chr117502867875029141E07132597
chr117503095775031007E07134876
chr117503111675031206E07135035
chr117503127875031473E07135197
chr117503159075031688E07135509
chr117503173075031780E07135649
chr117503184075031894E07135759
chr117503190275031973E07135821
chr117503207575032169E07135994
chr117503681375037729E07140732
chr117503921775039347E07143136
chr117503938075039436E07143299
chr117503945275040358E07143371
chr117504041675040718E07144335
chr117504072875040811E07144647
chr117504094775041031E07144866
chr117504106975041957E07144988
chr117504196975042137E07145888
chr117504422175044321E07148140
chr117504435975044487E07148278
chr117504450275044602E07148421
chr117504462275045074E07148541
chr117497105774971149E072-24932
chr117497120774971441E072-24640
chr117497145374971599E072-24482
chr117497162274971714E072-24367
chr117499094974992466E072-3615
chr117499622674996344E072145
chr117499690374996999E072822
chr117499998375000078E0723902
chr117500009075000313E0724009
chr117500047275000545E0724391
chr117500058975000747E0724508
chr117500099075001335E0724909
chr117500199975002055E0725918
chr117500372875003778E0727647
chr117500414075004321E0728059
chr117500449375004624E0728412
chr117500469975004749E0728618
chr117500483975004889E0728758
chr117500510475005244E0729023
chr117501209975013154E07216018
chr117501317675013249E07217095
chr117501328075013372E07217199
chr117501354075013632E07217459
chr117501365475013742E07217573
chr117501378275013849E07217701
chr117501385875013921E07217777
chr117501430875014416E07218227
chr117501467375014874E07218592
chr117501502875015170E07218947
chr117501563275015754E07219551
chr117501609575016244E07220014
chr117501632175016392E07220240
chr117501652075016741E07220439
chr117501708775017137E07221006
chr117501717375017223E07221092
chr117501743175017640E07221350
chr117501769075017845E07221609
chr117501793275017993E07221851
chr117501807875018136E07221997
chr117501821975018317E07222138
chr117501833075018370E07222249
chr117501838775018487E07222306
chr117501850675018601E07222425
chr117501869975018891E07222618
chr117501893275019000E07222851
chr117502052175020561E07224440
chr117502065175020728E07224570
chr117502087675020926E07224795
chr117502113975021181E07225058
chr117502126475021319E07225183
chr117502134375021397E07225262
chr117502145175021501E07225370
chr117502165275021720E07225571
chr117502180375021872E07225722
chr117502188975021973E07225808
chr117502201675022073E07225935
chr117502243475022479E07226353
chr117502354175023643E07227460
chr117502379875023878E07227717
chr117502406375024119E07227982
chr117502440975025644E07228328
chr117502837675028504E07232295
chr117502852175028658E07232440
chr117502867875029141E07232597
chr117502992375030757E07233842
chr117503095775031007E07234876
chr117503111675031206E07235035
chr117503127875031473E07235197
chr117503159075031688E07235509
chr117503173075031780E07235649
chr117503184075031894E07235759
chr117503190275031973E07235821
chr117503207575032169E07235994
chr117503584475036033E07239763
chr117503615375036203E07240072
chr117503681375037729E07240732
chr117503921775039347E07243136
chr117503938075039436E07243299
chr117503945275040358E07243371
chr117504041675040718E07244335
chr117504072875040811E07244647
chr117504094775041031E07244866
chr117504106975041957E07244988
chr117504450275044602E07248421
chr117504462275045074E07248541
chr117495944574959524E073-36557
chr117497105774971149E073-24932
chr117497120774971441E073-24640
chr117497145374971599E073-24482
chr117497162274971714E073-24367
chr117497175174972934E073-23147
chr117499094974992466E073-3615
chr117499622674996344E073145
chr117499998375000078E0733902
chr117500009075000313E0734009
chr117500047275000545E0734391
chr117500058975000747E0734508
chr117501209975013154E07316018
chr117501317675013249E07317095
chr117501328075013372E07317199
chr117501354075013632E07317459
chr117501365475013742E07317573
chr117501378275013849E07317701
chr117501385875013921E07317777
chr117501430875014416E07318227
chr117501444675014531E07318365
chr117501467375014874E07318592
chr117501502875015170E07318947
chr117501563275015754E07319551
chr117501609575016244E07320014
chr117501632175016392E07320240
chr117501652075016741E07320439
chr117501708775017137E07321006
chr117501717375017223E07321092
chr117501743175017640E07321350
chr117501769075017845E07321609
chr117501793275017993E07321851
chr117501807875018136E07321997
chr117501821975018317E07322138
chr117501833075018370E07322249
chr117501838775018487E07322306
chr117501850675018601E07322425
chr117501869975018891E07322618
chr117501893275019000E07322851
chr117501915175019526E07323070
chr117502052175020561E07324440
chr117502065175020728E07324570
chr117502087675020926E07324795
chr117502113975021181E07325058
chr117502126475021319E07325183
chr117502134375021397E07325262
chr117502145175021501E07325370
chr117502165275021720E07325571
chr117502180375021872E07325722
chr117502188975021973E07325808
chr117502354175023643E07327460
chr117502379875023878E07327717
chr117502406375024119E07327982
chr117502440975025644E07328328
chr117502595275025998E07329871
chr117502601075026060E07329929
chr117502620475026248E07330123
chr117502640075026450E07330319
chr117502647975026543E07330398
chr117502655775026800E07330476
chr117502867875029141E07332597
chr117503095775031007E07334876
chr117503111675031206E07335035
chr117503127875031473E07335197
chr117503159075031688E07335509
chr117503173075031780E07335649
chr117503508975035714E07339008
chr117503681375037729E07340732
chr117503938075039436E07343299
chr117503945275040358E07343371
chr117504041675040718E07344335
chr117504072875040811E07344647
chr117504094775041031E07344866
chr117504106975041957E07344988
chr117504196975042137E07345888
chr117504422175044321E07348140
chr117504435975044487E07348278
chr117504450275044602E07348421
chr117504462275045074E07348541
chr117497105774971149E074-24932
chr117497120774971441E074-24640
chr117497145374971599E074-24482
chr117497162274971714E074-24367
chr117497175174972934E074-23147
chr117499094974992466E074-3615
chr117499622674996344E074145
chr117499998375000078E0743902
chr117500009075000313E0744009
chr117500047275000545E0744391
chr117500058975000747E0744508
chr117500099075001335E0744909
chr117500414075004321E0748059
chr117500449375004624E0748412
chr117500469975004749E0748618
chr117500483975004889E0748758
chr117501209975013154E07416018
chr117501317675013249E07417095
chr117501328075013372E07417199
chr117501354075013632E07417459
chr117501365475013742E07417573
chr117501378275013849E07417701
chr117501385875013921E07417777
chr117501467375014874E07418592
chr117501502875015170E07418947
chr117501563275015754E07419551
chr117501609575016244E07420014
chr117501632175016392E07420240
chr117501652075016741E07420439
chr117501708775017137E07421006
chr117501717375017223E07421092
chr117501743175017640E07421350
chr117501769075017845E07421609
chr117501793275017993E07421851
chr117501807875018136E07421997
chr117501821975018317E07422138
chr117501833075018370E07422249
chr117501838775018487E07422306
chr117501850675018601E07422425
chr117501869975018891E07422618
chr117501893275019000E07422851
chr117502052175020561E07424440
chr117502065175020728E07424570
chr117502087675020926E07424795
chr117502113975021181E07425058
chr117502126475021319E07425183
chr117502134375021397E07425262
chr117502145175021501E07425370
chr117502165275021720E07425571
chr117502180375021872E07425722
chr117502188975021973E07425808
chr117502201675022073E07425935
chr117502354175023643E07427460
chr117502379875023878E07427717
chr117502406375024119E07427982
chr117502440975025644E07428328
chr117502822475028286E07432143
chr117502832375028373E07432242
chr117502837675028504E07432295
chr117502852175028658E07432440
chr117502867875029141E07432597
chr117502992375030757E07433842
chr117503095775031007E07434876
chr117503111675031206E07435035
chr117503127875031473E07435197
chr117503159075031688E07435509
chr117503173075031780E07435649
chr117503184075031894E07435759
chr117503190275031973E07435821
chr117503207575032169E07435994
chr117503221975032269E07436138
chr117503240675032583E07436325
chr117503261175032705E07436530
chr117503289375033070E07436812
chr117503310275033179E07437021
chr117503681375037729E07440732
chr117503921775039347E07443136
chr117503938075039436E07443299
chr117503945275040358E07443371
chr117504041675040718E07444335
chr117504072875040811E07444647
chr117504094775041031E07444866
chr117504106975041957E07444988
chr117504196975042137E07445888
chr117504422175044321E07448140
chr117504435975044487E07448278
chr117504450275044602E07448421
chr117504462275045074E07448541
chr117497162274971714E081-24367
chr117497175174972934E081-23147
chr117500449375004624E0818412
chr117500469975004749E0818618
chr117500483975004889E0818758
chr117500947975009529E08113398
chr117500980875010278E08113727
chr117501033075010393E08114249
chr117501050875010638E08114427
chr117501139175011438E08115310
chr117501150475011638E08115423
chr117501209975013154E08116018
chr117501317675013249E08117095
chr117501328075013372E08117199
chr117501354075013632E08117459
chr117501365475013742E08117573
chr117501430875014416E08118227
chr117501444675014531E08118365
chr117501467375014874E08118592
chr117501502875015170E08118947
chr117501563275015754E08119551
chr117502837675028504E08132295
chr117502852175028658E08132440
chr117502867875029141E08132597
chr117503095775031007E08134876
chr117503111675031206E08135035
chr117503127875031473E08135197
chr117503159075031688E08135509
chr117503173075031780E08135649
chr117503184075031894E08135759
chr117503190275031973E08135821
chr117503945275040358E08143371
chr117504041675040718E08144335
chr117504072875040811E08144647
chr117504094775041031E08144866
chr117504106975041957E08144988
chr117504196975042137E08145888
chr117504435975044487E08148278
chr117504450275044602E08148421
chr117504462275045074E08148541
chr117497120774971441E082-24640
chr117497145374971599E082-24482
chr117497162274971714E082-24367
chr117498253274982572E082-13509
chr117500469975004749E0828618
chr117500483975004889E0828758
chr117501209975013154E08216018
chr117501354075013632E08217459
chr117501365475013742E08217573
chr117501378275013849E08217701
chr117501385875013921E08217777
chr117501430875014416E08218227
chr117501444675014531E08218365
chr117501467375014874E08218592
chr117501502875015170E08218947
chr117502243475022479E08226353
chr117503111675031206E08235035
chr117503127875031473E08235197
chr117503159075031688E08235509
chr117503173075031780E08235649
chr117503184075031894E08235759
chr117503190275031973E08235821
chr117503207575032169E08235994
chr117503221975032269E08236138
chr117503240675032583E08236325
chr117503921775039347E08243136
chr117503938075039436E08243299
chr117503945275040358E08243371
chr117504041675040718E08244335
chr117504072875040811E08244647
chr117504094775041031E08244866
chr117504106975041957E08244988
chr117504196975042137E08245888










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr117495110674953241E067-42840
chr117495329074953748E067-42333
chr117495110674953241E068-42840
chr117495110674953241E069-42840
chr117495110674953241E070-42840
chr117495329074953748E070-42333
chr117495110674953241E071-42840
chr117495329074953748E071-42333
chr117495110674953241E072-42840
chr117495329074953748E072-42333
chr117495110674953241E073-42840
chr117495329074953748E073-42333
chr117495110674953241E074-42840
chr117495110674953241E082-42840
chr117495329074953748E082-42333