rs2241080

Homo sapiens
G>A / G>T
AOX1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0287 (8583/29906,GnomAD)
A=0265 (7717/29118,TOPMED)
A=0361 (1808/5008,1000G)
chr2:200662516 (GRCh38.p7) (2q33.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.200662516G>A
GRCh38.p7 chr 2NC_000002.12:g.200662516G>T
GRCh37.p13 chr 2NC_000002.11:g.201527239G>A
GRCh37.p13 chr 2NC_000002.11:g.201527239G>T

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
1000GenomesAfricanSub1322G=0.683A=0.317
1000GenomesAmericanSub694G=0.640A=0.360
1000GenomesEast AsianSub1008G=0.445A=0.555
1000GenomesEuropeSub1006G=0.761A=0.239
1000GenomesGlobalStudy-wide5008G=0.639A=0.361
1000GenomesSouth AsianSub978G=0.660A=0.340
The Genome Aggregation DatabaseAfricanSub8684G=0.709A=0.291
The Genome Aggregation DatabaseAmericanSub838G=0.610A=0.390
The Genome Aggregation DatabaseEast AsianSub1616G=0.466A=0.534
The Genome Aggregation DatabaseEuropeSub18466G=0.740A=0.259
The Genome Aggregation DatabaseGlobalStudy-wide29906G=0.713A=0.287
The Genome Aggregation DatabaseOtherSub302G=0.790A=0.210
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.735A=0.265
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
rs22410803.95E-05alcohol dependence21314694

eQTL of rs2241080 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 rs2241080 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.