rs7563911

Homo sapiens
A>C / A>G
AOX3P-AOX2P : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0207 (6208/29944,GnomAD)
A==0273 (7960/29118,TOPMED)
A==0276 (1382/5008,1000G)
A==0090 (347/3854,ALSPAC)
A==0093 (344/3708,TWINSUK)
chr2:200711561 (GRCh38.p7) (2q33.1)
AD
GWASdb2
1   publication(s)
See rs on genome
4 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.200711561A>C
GRCh38.p7 chr 2NC_000002.12:g.200711561A>G
GRCh37.p13 chr 2NC_000002.11:g.201576284A>C
GRCh37.p13 chr 2NC_000002.11:g.201576284A>G
AOX3P pseudogeneNG_046634.1:g.15939A>C
AOX3P pseudogeneNG_046634.1:g.15939A>G

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
1000GenomesAfricanSub1322A=0.554C=0.003
1000GenomesAmericanSub694A=0.140C=0.00,
1000GenomesEast AsianSub1008A=0.195C=0.000
1000GenomesEuropeSub1006A=0.081C=0.000
1000GenomesGlobalStudy-wide5008A=0.276C=0.001
1000GenomesSouth AsianSub978A=0.280C=0.00,
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.090G=0.910
The Genome Aggregation DatabaseAfricanSub8702A=0.470G=0.526
The Genome Aggregation DatabaseAmericanSub838A=0.110G=0.89,
The Genome Aggregation DatabaseEast AsianSub1622A=0.210G=0.790
The Genome Aggregation DatabaseEuropeSub18480A=0.089G=0.910
The Genome Aggregation DatabaseGlobalStudy-wide29944A=0.207G=0.791
The Genome Aggregation DatabaseOtherSub302A=0.120G=0.88,
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.273G=0.726
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.093G=0.907
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs75639116.6E-05alcoholism (heaviness of drinking)21529783

eQTL of rs7563911 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 rs7563911 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 )
chr25695991356960666E070-12146
chr25695878756958952E081-13860
chr25695937956959604E081-13208
chr25695991356960666E081-12146