rs8037972

Homo sapiens
G>A
APBA2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0169 (5064/29908,GnomAD)
G==0259 (7563/29118,TOPMED)
G==0210 (1051/5008,1000G)
A=0162 (739/4566,GO-ESP)
G==0018 (70/3854,ALSPAC)
G==0017 (63/3708,TWINSUK)
chr15:29094390 (GRCh38.p7) (15q13.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.29094390G>A
GRCh37.p13 chr 15NC_000015.9:g.29386593G>A
GRCh38.p7 chr 15 fix patch HG2139_PATCHNW_011332701.1:g.1256947A>G
GRCh38.p7 chr 15 alt locus HSCHR15_4_CTG8NT_187660.1:g.1369431A>G

Gene: APBA2, amyloid beta precursor protein binding family A member 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
APBA2 transcript variant 2NM_001130414.1:c.N/AIntron Variant
APBA2 transcript variant 1NM_005503.3:c.N/AIntron Variant
APBA2 transcript variant X2XM_011521488.2:c.N/AIntron Variant
APBA2 transcript variant X2XM_011521489.2:c.N/AIntron Variant
APBA2 transcript variant X3XM_011521490.2:c.N/AIntron Variant
APBA2 transcript variant X6XM_011521491.1:c.N/AIntron Variant
APBA2 transcript variant X5XM_011521492.2:c.N/AIntron Variant
APBA2 transcript variant X18XM_011521493.2:c.N/AIntron Variant
APBA2 transcript variant X24XM_011521494.2:c.N/AIntron Variant
APBA2 transcript variant X25XM_011521495.1:c.N/AIntron Variant
APBA2 transcript variant X26XM_011521496.1:c.N/AIntron Variant
APBA2 transcript variant X1XM_017022101.1:c.N/AIntron Variant
APBA2 transcript variant X3XM_017022102.1:c.N/AIntron Variant
APBA2 transcript variant X4XM_017022103.1:c.N/AIntron Variant
APBA2 transcript variant X5XM_017022104.1:c.N/AIntron Variant
APBA2 transcript variant X7XM_017022105.1:c.N/AIntron Variant
APBA2 transcript variant X8XM_017022106.1:c.N/AIntron Variant
APBA2 transcript variant X9XM_017022107.1:c.N/AIntron Variant
APBA2 transcript variant X10XM_017022108.1:c.N/AIntron Variant
APBA2 transcript variant X11XM_017022109.1:c.N/AIntron Variant
APBA2 transcript variant X4XM_017022110.1:c.N/AIntron Variant
APBA2 transcript variant X14XM_017022111.1:c.N/AIntron Variant
APBA2 transcript variant X17XM_017022112.1:c.N/AIntron Variant
APBA2 transcript variant X19XM_017022113.1:c.N/AIntron Variant
APBA2 transcript variant X20XM_017022114.1:c.N/AIntron Variant
APBA2 transcript variant X21XM_017022115.1:c.N/AIntron Variant
APBA2 transcript variant X22XM_017022116.1:c.N/AIntron Variant
APBA2 transcript variant X23XM_017022117.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.600A=0.400
1000GenomesAmericanSub694G=0.110A=0.890
1000GenomesEast AsianSub1008G=0.052A=0.948
1000GenomesEuropeSub1006G=0.009A=0.991
1000GenomesGlobalStudy-wide5008G=0.210A=0.790
1000GenomesSouth AsianSub978G=0.120A=0.880
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.018A=0.982
The Genome Aggregation DatabaseAfricanSub8652G=0.539A=0.461
The Genome Aggregation DatabaseAmericanSub836G=0.090A=0.910
The Genome Aggregation DatabaseEast AsianSub1620G=0.052A=0.948
The Genome Aggregation DatabaseEuropeSub18498G=0.012A=0.987
The Genome Aggregation DatabaseGlobalStudy-wide29908G=0.169A=0.830
The Genome Aggregation DatabaseOtherSub302G=0.040A=0.960
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.259A=0.740
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.017A=0.983
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs80379723.45E-05alcohol consumption23953852

eQTL of rs8037972 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 rs8037972 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 )
chr152933693129337112E067-49481
chr152933783129337893E067-48700
chr152933794129338210E067-48383
chr152933891329339870E067-46723
chr152934156929341673E067-44920
chr152934179529342117E067-44476
chr152934291629342994E067-43599
chr152934305329343495E067-43098
chr152934355129343683E067-42910
chr152934371929343911E067-42682
chr152934790829348713E067-37880
chr152934890029349278E067-37315
chr152934938629349539E067-37054
chr152934969729349747E067-36846
chr152934992529349975E067-36618
chr152935005129350101E067-36492
chr152935014329350439E067-36154
chr152935311729353200E067-33393
chr152935409529354204E067-32389
chr152935439829354469E067-32124
chr152935456129354663E067-31930
chr152935466529354768E067-31825
chr152935480729354858E067-31735
chr152935738629357436E067-29157
chr152935785929357932E067-28661
chr152935811729358197E067-28396
chr152935858929358639E067-27954
chr152936145829361719E067-24874
chr152936209529362150E067-24443
chr152936461529364665E067-21928
chr152936468729364794E067-21799
chr152936486429364929E067-21664
chr152936612729366572E067-20021
chr152936665829366698E067-19895
chr152938140029381503E067-5090
chr152938171429381773E067-4820
chr152938240229382645E067-3948
chr152938264829382695E067-3898
chr152938276529383206E067-3387
chr152939504529396835E0678452
chr152939689229396953E06710299
chr152940623329406336E06719640
chr152940642929406489E06719836
chr152940655229406761E06719959
chr152940676629406830E06720173
chr152933693129337112E068-49481
chr152933783129337893E068-48700
chr152933794129338210E068-48383
chr152933891329339870E068-46723
chr152934156929341673E068-44920
chr152934179529342117E068-44476
chr152934291629342994E068-43599
chr152934305329343495E068-43098
chr152934355129343683E068-42910
chr152934371929343911E068-42682
chr152934790829348713E068-37880
chr152934890029349278E068-37315
chr152934938629349539E068-37054
chr152935409529354204E068-32389
chr152935439829354469E068-32124
chr152935456129354663E068-31930
chr152935466529354768E068-31825
chr152935480729354858E068-31735
chr152935692429356978E068-29615
chr152935738629357436E068-29157
chr152935785929357932E068-28661
chr152935811729358197E068-28396
chr152935858929358639E068-27954
chr152936069329360743E068-25850
chr152936132229361382E068-25211
chr152936145829361719E068-24874
chr152936209529362150E068-24443
chr152936461529364665E068-21928
chr152936468729364794E068-21799
chr152936486429364929E068-21664
chr152936612729366572E068-20021
chr152936665829366698E068-19895
chr152938043029380489E068-6104
chr152938055529380686E068-5907
chr152938072129380819E068-5774
chr152938089029380930E068-5663
chr152938140029381503E068-5090
chr152938171429381773E068-4820
chr152940676629406830E06820173
chr152933693129337112E069-49481
chr152933783129337893E069-48700
chr152933794129338210E069-48383
chr152933891329339870E069-46723
chr152934048729340537E069-46056
chr152934156929341673E069-44920
chr152934179529342117E069-44476
chr152934305329343495E069-43098
chr152934355129343683E069-42910
chr152934371929343911E069-42682
chr152934790829348713E069-37880
chr152934890029349278E069-37315
chr152934938629349539E069-37054
chr152934969729349747E069-36846
chr152934992529349975E069-36618
chr152935005129350101E069-36492
chr152935409529354204E069-32389
chr152935439829354469E069-32124
chr152935456129354663E069-31930
chr152935466529354768E069-31825
chr152935480729354858E069-31735
chr152935542129355477E069-31116
chr152935548629355546E069-31047
chr152935599329356083E069-30510
chr152935636229356441E069-30152
chr152935658229356753E069-29840
chr152935692429356978E069-29615
chr152935738629357436E069-29157
chr152935785929357932E069-28661
chr152935811729358197E069-28396
chr152935858929358639E069-27954
chr152936069329360743E069-25850
chr152936132229361382E069-25211
chr152936145829361719E069-24874
chr152936209529362150E069-24443
chr152936486429364929E069-21664
chr152936612729366572E069-20021
chr152936665829366698E069-19895
chr152937811429378246E069-8347
chr152937829029378421E069-8172
chr152937851429378575E069-8018
chr152937993929380070E069-6523
chr152938011329380206E069-6387
chr152938043029380489E069-6104
chr152938055529380686E069-5907
chr152938072129380819E069-5774
chr152938089029380930E069-5663
chr152938140029381503E069-5090
chr152938171429381773E069-4820
chr152938276529383206E069-3387
chr152938387529384180E069-2413
chr152938433029384400E069-2193
chr152938446929384519E069-2074
chr152938498929385165E069-1428
chr152938621929386291E069-302
chr152939012929390208E0693536
chr152939029129390379E0693698
chr152939504529396835E0698452
chr152939689229396953E06910299
chr152940610729406178E06919514
chr152940623329406336E06919640
chr152940642929406489E06919836
chr152940655229406761E06919959
chr152940676629406830E06920173
chr152943180729433191E06945214
chr152933693129337112E070-49481
chr152934790829348713E070-37880
chr152934890029349278E070-37315
chr152934938629349539E070-37054
chr152935409529354204E070-32389
chr152935439829354469E070-32124
chr152935456129354663E070-31930
chr152935466529354768E070-31825
chr152935480729354858E070-31735
chr152936145829361719E070-24874
chr152936209529362150E070-24443
chr152936461529364665E070-21928
chr152936468729364794E070-21799
chr152936880529368845E070-17748
chr152936912029369185E070-17408
chr152941891729419026E07032324
chr152941908629419148E07032493
chr152941918329419353E07032590
chr152941936829419660E07032775
chr152942411729424280E07037524
chr152942836329428409E07041770
chr152942858629428793E07041993
chr152942895029429074E07042357
chr152942943129429842E07042838
chr152943003829430141E07043445
chr152943015429430208E07043561
chr152943026129430323E07043668
chr152943054929430599E07043956
chr152943180729433191E07045214
chr152943326329433323E07046670
chr152943352329433738E07046930
chr152933693129337112E071-49481
chr152933783129337893E071-48700
chr152933794129338210E071-48383
chr152933891329339870E071-46723
chr152934048729340537E071-46056
chr152934156929341673E071-44920
chr152934179529342117E071-44476
chr152934291629342994E071-43599
chr152934305329343495E071-43098
chr152934355129343683E071-42910
chr152934371929343911E071-42682
chr152934772329347831E071-38762
chr152934790829348713E071-37880
chr152934890029349278E071-37315
chr152934938629349539E071-37054
chr152934969729349747E071-36846
chr152935409529354204E071-32389
chr152935439829354469E071-32124
chr152935456129354663E071-31930
chr152935466529354768E071-31825
chr152935480729354858E071-31735
chr152935636229356441E071-30152
chr152935658229356753E071-29840
chr152935692429356978E071-29615
chr152935738629357436E071-29157
chr152935785929357932E071-28661
chr152935811729358197E071-28396
chr152935858929358639E071-27954
chr152935867429358735E071-27858
chr152935880329358857E071-27736
chr152935969829359782E071-26811
chr152936007529360288E071-26305
chr152936029329360454E071-26139
chr152936069329360743E071-25850
chr152936132229361382E071-25211
chr152936145829361719E071-24874
chr152936209529362150E071-24443
chr152936612729366572E071-20021
chr152936665829366698E071-19895
chr152938043029380489E071-6104
chr152938055529380686E071-5907
chr152938072129380819E071-5774
chr152938089029380930E071-5663
chr152938140029381503E071-5090
chr152938171429381773E071-4820
chr152938264829382695E071-3898
chr152938276529383206E071-3387
chr152938433029384400E071-2193
chr152938446929384519E071-2074
chr152938498929385165E071-1428
chr152938525629385364E071-1229
chr152938543329385483E071-1110
chr152938610729386147E071-446
chr152938621929386291E071-302
chr152939504529396835E0718452
chr152939689229396953E07110299
chr152940610729406178E07119514
chr152940623329406336E07119640
chr152940642929406489E07119836
chr152940655229406761E07119959
chr152940676629406830E07120173
chr152943352329433738E07146930
chr152943379929434005E07147206
chr152933693129337112E072-49481
chr152933783129337893E072-48700
chr152933794129338210E072-48383
chr152933891329339870E072-46723
chr152934156929341673E072-44920
chr152934179529342117E072-44476
chr152934305329343495E072-43098
chr152934355129343683E072-42910
chr152934371929343911E072-42682
chr152934643329346483E072-40110
chr152934657229346622E072-39971
chr152934790829348713E072-37880
chr152934890029349278E072-37315
chr152934938629349539E072-37054
chr152934969729349747E072-36846
chr152934992529349975E072-36618
chr152935005129350101E072-36492
chr152935283629352886E072-33707
chr152935311729353200E072-33393
chr152935409529354204E072-32389
chr152935439829354469E072-32124
chr152935456129354663E072-31930
chr152935466529354768E072-31825
chr152935480729354858E072-31735
chr152935692429356978E072-29615
chr152935738629357436E072-29157
chr152935785929357932E072-28661
chr152935811729358197E072-28396
chr152935858929358639E072-27954
chr152935867429358735E072-27858
chr152935880329358857E072-27736
chr152935900129359069E072-27524
chr152935917129359285E072-27308
chr152936132229361382E072-25211
chr152936145829361719E072-24874
chr152936486429364929E072-21664
chr152936612729366572E072-20021
chr152936665829366698E072-19895
chr152937993929380070E072-6523
chr152938011329380206E072-6387
chr152938089029380930E072-5663
chr152938171429381773E072-4820
chr152938264829382695E072-3898
chr152938498929385165E072-1428
chr152938525629385364E072-1229
chr152938543329385483E072-1110
chr152938610729386147E072-446
chr152938621929386291E072-302
chr152939504529396835E0728452
chr152939689229396953E07210299
chr152940610729406178E07219514
chr152940623329406336E07219640
chr152940642929406489E07219836
chr152940655229406761E07219959
chr152940676629406830E07220173
chr152933693129337112E073-49481
chr152933783129337893E073-48700
chr152933794129338210E073-48383
chr152933891329339870E073-46723
chr152934305329343495E073-43098
chr152934355129343683E073-42910
chr152934371929343911E073-42682
chr152934790829348713E073-37880
chr152934890029349278E073-37315
chr152934938629349539E073-37054
chr152934969729349747E073-36846
chr152935283629352886E073-33707
chr152935311729353200E073-33393
chr152935409529354204E073-32389
chr152935439829354469E073-32124
chr152935456129354663E073-31930
chr152935466529354768E073-31825
chr152935480729354858E073-31735
chr152935599329356083E073-30510
chr152935636229356441E073-30152
chr152935658229356753E073-29840
chr152935692429356978E073-29615
chr152935738629357436E073-29157
chr152935785929357932E073-28661
chr152935811729358197E073-28396
chr152935858929358639E073-27954
chr152935867429358735E073-27858
chr152935880329358857E073-27736
chr152935900129359069E073-27524
chr152935917129359285E073-27308
chr152936145829361719E073-24874
chr152936209529362150E073-24443
chr152936461529364665E073-21928
chr152936468729364794E073-21799
chr152936486429364929E073-21664
chr152936665829366698E073-19895
chr152938140029381503E073-5090
chr152938171429381773E073-4820
chr152938187529382374E073-4219
chr152938240229382645E073-3948
chr152938264829382695E073-3898
chr152939504529396835E0738452
chr152939689229396953E07310299
chr152943180729433191E07345214
chr152933693129337112E074-49481
chr152933783129337893E074-48700
chr152933794129338210E074-48383
chr152933891329339870E074-46723
chr152934156929341673E074-44920
chr152934179529342117E074-44476
chr152934291629342994E074-43599
chr152934305329343495E074-43098
chr152934355129343683E074-42910
chr152934371929343911E074-42682
chr152934790829348713E074-37880
chr152934890029349278E074-37315
chr152934938629349539E074-37054
chr152934969729349747E074-36846
chr152935409529354204E074-32389
chr152935439829354469E074-32124
chr152935456129354663E074-31930
chr152935466529354768E074-31825
chr152935480729354858E074-31735
chr152935636229356441E074-30152
chr152935658229356753E074-29840
chr152935692429356978E074-29615
chr152935738629357436E074-29157
chr152935785929357932E074-28661
chr152935811729358197E074-28396
chr152935858929358639E074-27954
chr152935867429358735E074-27858
chr152935880329358857E074-27736
chr152935900129359069E074-27524
chr152935917129359285E074-27308
chr152936007529360288E074-26305
chr152936029329360454E074-26139
chr152936069329360743E074-25850
chr152936132229361382E074-25211
chr152936145829361719E074-24874
chr152936209529362150E074-24443
chr152936612729366572E074-20021
chr152936665829366698E074-19895
chr152936723929367289E074-19304
chr152937811429378246E074-8347
chr152937829029378421E074-8172
chr152937851429378575E074-8018
chr152937869229378888E074-7705
chr152938140029381503E074-5090
chr152938171429381773E074-4820
chr152938240229382645E074-3948
chr152938264829382695E074-3898
chr152938276529383206E074-3387
chr152938329429383344E074-3249
chr152938339129383478E074-3115
chr152938369229383742E074-2851
chr152938498929385165E074-1428
chr152938525629385364E074-1229
chr152938543329385483E074-1110
chr152939689229396953E07410299
chr152940547229405998E07418879
chr152940610729406178E07419514
chr152940623329406336E07419640
chr152940642929406489E07419836
chr152940655229406761E07419959
chr152940676629406830E07420173
chr152943180729433191E07445214
chr152943326329433323E07446670
chr152933693129337112E081-49481
chr152934305329343495E081-43098
chr152934355129343683E081-42910
chr152934371929343911E081-42682
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