rs1329957

Homo sapiens
A>G
OR1Q1 : Missense Variant
OR1B1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0080 (9749/121400,ExAC)
A==0120 (3595/29944,GnomAD)
A==0150 (4368/29118,TOPMED)
G=0133 (1737/13006,GO-ESP)
A==0118 (592/5008,1000G)
A==0065 (250/3854,ALSPAC)
A==0066 (243/3708,TWINSUK)
chr9:122615226 (GRCh38.p7) (9q33.2)
AD
GWASdb2
2   publication(s)
See rs on genome
0 Enhancer around
3 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.122615226A>G
GRCh37.p13 chr 9NC_000009.11:g.125377505A>G

Gene: OR1B1, olfactory receptor family 1 subfamily B member 1 (gene/pseudogene)(minus strand)

Molecule type Change Amino acid[Codon] SO Term
OR1B1 transcriptNM_001004450.1:c.N/AGenic Downstream Transcript Variant
OR1B1 transcript variant X1XM_017014695.1:c.N/AGenic Downstream Transcript Variant
OR1B1 transcript variant X2XM_017014696.1:c.N/AGenic Downstream Transcript Variant
OR1B1 transcript variant X3XR_001746288.1:n.N/AIntron Variant

Gene: OR1Q1, olfactory receptor family 1 subfamily Q member 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
OR1Q1 transcriptNM_012364.1:c.489A>GI [ATA]> M [ATG]Coding Sequence Variant
olfactory receptor 1Q1NP_036496.1:p.Ile...NP_036496.1:p.Ile163MetI [Ile]> M [Met]Missense Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.292G=0.708
1000GenomesAmericanSub694A=0.070G=0.930
1000GenomesEast AsianSub1008A=0.051G=0.949
1000GenomesEuropeSub1006A=0.076G=0.924
1000GenomesGlobalStudy-wide5008A=0.118G=0.882
1000GenomesSouth AsianSub978A=0.030G=0.970
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.065G=0.935
The Exome Aggregation ConsortiumAmericanSub21978A=0.143G=0.857
The Exome Aggregation ConsortiumAsianSub25164A=0.046G=0.953
The Exome Aggregation ConsortiumEuropeSub73350A=0.073G=0.926
The Exome Aggregation ConsortiumGlobalStudy-wide121400A=0.080G=0.919
The Exome Aggregation ConsortiumOtherSub908A=0.070G=0.930
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.150G=0.850
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.066G=0.934
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
23620144Genome-wide scan of job-related exhaustion with three replication studies implicate a susceptibility variant at the UST gene locus.Sulkava SHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs13299570.00026alcohol dependence20201924

eQTL of rs1329957 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 rs1329957 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.

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr9125424152125424202E07446647
chr9125424277125424445E07446772
chr9125424514125424578E07447009