rs3815502

Homo sapiens
C>A / C>G
AOX1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0232 (6959/29950,GnomAD)
G=0185 (5399/29118,TOPMED)
G=0302 (1514/5008,1000G)
G=0207 (796/3854,ALSPAC)
G=0206 (764/3708,TWINSUK)
chr2:200661197 (GRCh38.p7) (2q33.1)
AD
GWASdb2
1   publication(s)
See rs on genome
63 Enhancers around
131 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.200661197C>A
GRCh38.p7 chr 2NC_000002.12:g.200661197C>G
GRCh37.p13 chr 2NC_000002.11:g.201525920C>A
GRCh37.p13 chr 2NC_000002.11:g.201525920C>G

Gene: AOX1, aldehyde oxidase 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
AOX1 transcriptNM_001159.3:c.N/AIntron Variant
AOX1 transcript variant X1XM_011511062.1:c.N/AIntron Variant
AOX1 transcript variant X2XM_017003946.1:c.N/AIntron Variant
AOX1 transcript variant X3XM_017003947.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.896G=0.104
1000GenomesAmericanSub694C=0.650G=0.350
1000GenomesEast AsianSub1008C=0.444G=0.556
1000GenomesEuropeSub1006C=0.764G=0.236
1000GenomesGlobalStudy-wide5008C=0.698G=0.302
1000GenomesSouth AsianSub978C=0.660G=0.340
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.793G=0.207
The Genome Aggregation DatabaseAfricanSub8720C=0.877G=0.123
The Genome Aggregation DatabaseAmericanSub836C=0.620G=0.38,
The Genome Aggregation DatabaseEast AsianSub1612C=0.466G=0.533
The Genome Aggregation DatabaseEuropeSub18480C=0.748G=0.251
The Genome Aggregation DatabaseGlobalStudy-wide29950C=0.767G=0.232
The Genome Aggregation DatabaseOtherSub302C=0.800G=0.20,
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.814G=0.185
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.794G=0.206
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
rs38155020.000197alcohol dependence21314694

eQTL of rs3815502 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 rs3815502 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 )
chr28048293080483080E067-8740
chr28048318080483309E067-8511
chr28048365980483840E067-7980
chr28051678880516911E06724968
chr28051971880519935E06727898
chr28052033180520409E06728511
chr28048218580482273E068-9547
chr28048239380482712E068-9108
chr28048272280482828E068-8992
chr28048293080483080E068-8740
chr28048318080483309E068-8511
chr28053319280533378E06841372
chr28046936680470234E069-21586
chr28048365980483840E069-7980
chr28048401380484164E069-7656
chr28051655180516747E06924731
chr28051678880516911E06924968
chr28051971880519935E06927898
chr28052033180520409E06928511
chr28046936680470234E070-21586
chr28048218580482273E070-9547
chr28048239380482712E070-9108
chr28048272280482828E070-8992
chr28048293080483080E070-8740
chr28048318080483309E070-8511
chr28048365980483840E070-7980
chr28048401380484164E070-7656
chr28051556180515673E07023741
chr28048272280482828E071-8992
chr28048293080483080E071-8740
chr28048318080483309E071-8511
chr28048365980483840E071-7980
chr28048401380484164E071-7656
chr28051884780518926E07127027
chr28051971880519935E07127898
chr28052033180520409E07128511
chr28053319280533378E07141372
chr28046566080465808E072-26012
chr28046588080466072E072-25748
chr28048239380482712E072-9108
chr28048318080483309E072-8511
chr28048365980483840E072-7980
chr28048401380484164E072-7656
chr28051655180516747E07224731
chr28051678880516911E07224968
chr28046936680470234E073-21586
chr28048293080483080E073-8740
chr28048318080483309E073-8511
chr28048365980483840E073-7980
chr28048401380484164E073-7656
chr28051971880519935E07427898
chr28052033180520409E07428511
chr28051556180515673E08123741
chr28052725480527370E08135434
chr28052745680527536E08135636
chr28053319280533378E08141372
chr28053372380533986E08141903
chr28048272280482828E082-8992
chr28048293080483080E082-8740
chr28048318080483309E082-8511
chr28053319280533378E08241372
chr28053372380533986E08241903
chr28053422780534562E08242407










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr28052665580526731E06734835
chr28052782180527932E06736001
chr28052810580528192E06736285
chr28052823580528434E06736415
chr28052849380528610E06736673
chr28052868880528738E06736868
chr28052923980529361E06737419
chr28052936880529632E06737548
chr28052965880529821E06737838
chr28052986980530855E06738049
chr28053086580530954E06739045
chr28053102280531107E06739202
chr28053111780531695E06739297
chr28053177280531995E06739952
chr28053202080532196E06740200
chr28053240780532492E06740587
chr28052665580526731E06834835
chr28052758680527781E06835766
chr28052782180527932E06836001
chr28052810580528192E06836285
chr28052823580528434E06836415
chr28052849380528610E06836673
chr28052868880528738E06836868
chr28052923980529361E06837419
chr28052936880529632E06837548
chr28052965880529821E06837838
chr28052986980530855E06838049
chr28053086580530954E06839045
chr28053102280531107E06839202
chr28053111780531695E06839297
chr28053177280531995E06839952
chr28053202080532196E06840200
chr28053240780532492E06840587
chr28052665580526731E06934835
chr28052758680527781E06935766
chr28052782180527932E06936001
chr28052810580528192E06936285
chr28052823580528434E06936415
chr28052849380528610E06936673
chr28052923980529361E06937419
chr28052936880529632E06937548
chr28053086580530954E06939045
chr28053102280531107E06939202
chr28053111780531695E06939297
chr28053177280531995E06939952
chr28052758680527781E07035766
chr28052782180527932E07036001
chr28052810580528192E07036285
chr28052823580528434E07036415
chr28052849380528610E07036673
chr28052868880528738E07036868
chr28052923980529361E07037419
chr28052936880529632E07037548
chr28053111780531695E07039297
chr28053177280531995E07039952
chr28052758680527781E07135766
chr28052782180527932E07136001
chr28052810580528192E07136285
chr28052823580528434E07136415
chr28052849380528610E07136673
chr28052868880528738E07136868
chr28052923980529361E07137419
chr28053111780531695E07139297
chr28053177280531995E07139952
chr28053202080532196E07140200
chr28052665580526731E07234835
chr28052758680527781E07235766
chr28052782180527932E07236001
chr28052810580528192E07236285
chr28052823580528434E07236415
chr28052849380528610E07236673
chr28052868880528738E07236868
chr28052923980529361E07237419
chr28052936880529632E07237548
chr28052965880529821E07237838
chr28052986980530855E07238049
chr28053086580530954E07239045
chr28053102280531107E07239202
chr28053111780531695E07239297
chr28053177280531995E07239952
chr28053202080532196E07240200
chr28053240780532492E07240587
chr28052665580526731E07334835
chr28052782180527932E07336001
chr28052810580528192E07336285
chr28052823580528434E07336415
chr28052849380528610E07336673
chr28052868880528738E07336868
chr28052923980529361E07337419
chr28052936880529632E07337548
chr28052965880529821E07337838
chr28052986980530855E07338049
chr28053086580530954E07339045
chr28053102280531107E07339202
chr28053111780531695E07339297
chr28053177280531995E07339952
chr28053202080532196E07340200
chr28053240780532492E07340587
chr28052936880529632E07437548
chr28052965880529821E07437838
chr28052986980530855E07438049
chr28053086580530954E07439045
chr28053102280531107E07439202
chr28053111780531695E07439297
chr28053177280531995E07439952
chr28052810580528192E08136285
chr28052823580528434E08136415
chr28052849380528610E08136673
chr28052936880529632E08137548
chr28052965880529821E08137838
chr28052986980530855E08138049
chr28053086580530954E08139045
chr28053102280531107E08139202
chr28053111780531695E08139297
chr28053177280531995E08139952
chr28052665580526731E08234835
chr28052758680527781E08235766
chr28052782180527932E08236001
chr28052810580528192E08236285
chr28052823580528434E08236415
chr28052849380528610E08236673
chr28052868880528738E08236868
chr28052923980529361E08237419
chr28052936880529632E08237548
chr28052965880529821E08237838
chr28053086580530954E08239045
chr28053102280531107E08239202
chr28053111780531695E08239297
chr28053177280531995E08239952
chr28053202080532196E08240200
chr28053240780532492E08240587