rs2253612

Homo sapiens
C>T
AOX3P-AOX2P : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0205 (6167/29948,GnomAD)
C==0263 (7685/29118,TOPMED)
C==0254 (1272/5008,1000G)
C==0100 (385/3854,ALSPAC)
C==0099 (367/3708,TWINSUK)
chr2:200703710 (GRCh38.p7) (2q33.1)
AD
GWASCatalog
1   publication(s)
See rs on genome
69 Enhancers around
15 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.200703710C>T
GRCh37.p13 chr 2NC_000002.11:g.201568433C>T
AOX3P pseudogeneNG_046634.1:g.8088C>T

Gene: AOX3P-AOX2P, AOX3P-AOX2P readthrough(plus strand)

Molecule type Change Amino acid[Codon] SO Term
AOX3P-AOX2P transcript variant BNR_135011.1:n.N/AIntron Variant
AOX3P-AOX2P transcript variant ANR_135012.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.521T=0.479
1000GenomesAmericanSub694C=0.080T=0.920
1000GenomesEast AsianSub1008C=0.211T=0.789
1000GenomesEuropeSub1006C=0.111T=0.889
1000GenomesGlobalStudy-wide5008C=0.254T=0.746
1000GenomesSouth AsianSub978C=0.210T=0.790
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.100T=0.900
The Genome Aggregation DatabaseAfricanSub8694C=0.473T=0.527
The Genome Aggregation DatabaseAmericanSub836C=0.080T=0.920
The Genome Aggregation DatabaseEast AsianSub1618C=0.201T=0.799
The Genome Aggregation DatabaseEuropeSub18498C=0.088T=0.911
The Genome Aggregation DatabaseGlobalStudy-wide29948C=0.205T=0.794
The Genome Aggregation DatabaseOtherSub302C=0.090T=0.910
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.263T=0.736
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.099T=0.901
PMID Title Author Journal
26365420The genetics of alcohol dependence: Twin and SNP-based heritability, and genome-wide association study based on AUDIT scores.Mbarek HAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs22536128E-07alcohol dependence26365420

eQTL of rs2253612 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 rs2253612 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 )
chr2201567383201568193E067-240
chr2201568434201568527E0671
chr2201568620201568984E067187
chr2201570163201570317E0671730
chr2201570441201570738E0672008
chr2201578530201578772E06710097
chr2201578792201578840E06710359
chr2201553434201553518E068-14915
chr2201553730201553876E068-14557
chr2201553954201554108E068-14325
chr2201563084201563199E068-5234
chr2201568434201568527E0681
chr2201570163201570317E0681730
chr2201570441201570738E0682008
chr2201578792201578840E06810359
chr2201606894201606954E06838461
chr2201606991201607448E06838558
chr2201553434201553518E069-14915
chr2201553730201553876E069-14557
chr2201567383201568193E069-240
chr2201568434201568527E0691
chr2201568620201568984E069187
chr2201570163201570317E0691730
chr2201571067201571107E0692634
chr2201578792201578840E06910359
chr2201593972201594078E06925539
chr2201606991201607448E06938558
chr2201607478201607547E06939045
chr2201553434201553518E071-14915
chr2201553730201553876E071-14557
chr2201553954201554108E071-14325
chr2201563084201563199E071-5234
chr2201565557201565628E071-2805
chr2201565720201565836E071-2597
chr2201566243201566352E071-2081
chr2201567383201568193E071-240
chr2201568434201568527E0711
chr2201568620201568984E071187
chr2201570163201570317E0711730
chr2201570441201570738E0712008
chr2201571067201571107E0712634
chr2201578530201578772E07110097
chr2201578792201578840E07110359
chr2201590685201590750E07122252
chr2201593972201594078E07125539
chr2201600450201600748E07132017
chr2201553434201553518E072-14915
chr2201563084201563199E072-5234
chr2201570163201570317E0721730
chr2201570441201570738E0722008
chr2201578530201578772E07210097
chr2201578792201578840E07210359
chr2201590685201590750E07222252
chr2201578792201578840E07310359
chr2201606894201606954E07338461
chr2201606991201607448E07338558
chr2201607478201607547E07339045
chr2201553434201553518E074-14915
chr2201553730201553876E074-14557
chr2201553954201554108E074-14325
chr2201563084201563199E074-5234
chr2201566243201566352E074-2081
chr2201566457201566564E074-1869
chr2201567383201568193E074-240
chr2201568434201568527E0741
chr2201570163201570317E0741730
chr2201570441201570738E0742008
chr2201593343201593719E07424910
chr2201593972201594078E07425539







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2201577631201578487E0679198
chr2201599941201600048E06731508
chr2201577631201578487E0689198
chr2201597774201597836E06829341
chr2201599941201600048E06831508
chr2201577631201578487E0699198
chr2201599941201600048E06931508
chr2201577631201578487E0709198
chr2201597774201597836E07129341
chr2201599941201600048E07131508
chr2201577631201578487E0729198
chr2201599941201600048E07231508
chr2201577631201578487E0739198
chr2201577631201578487E0749198
chr2201577631201578487E0829198