rs2483767

Homo sapiens
A>G
MBOAT1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0098 (2951/29932,GnomAD)
G=0123 (3608/29118,TOPMED)
G=0114 (572/5008,1000G)
G=0060 (230/3854,ALSPAC)
G=0059 (218/3708,TWINSUK)
chr6:20128326 (GRCh38.p7) (6p22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
34 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.20128326A>G
GRCh37.p13 chr 6NC_000006.11:g.20128557A>G

Gene: MBOAT1, membrane bound O-acyltransferase domain containing 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
MBOAT1 transcript variant 1NM_001080480.2:c.N/AIntron Variant
MBOAT1 transcript variant 2NR_073465.1:n.N/AIntron Variant
MBOAT1 transcript variant X1XM_006714999.2:c.N/AIntron Variant
MBOAT1 transcript variant X2XM_006715000.3:c.N/AIntron Variant
MBOAT1 transcript variant X3XM_011514313.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.797G=0.203
1000GenomesAmericanSub694A=0.910G=0.090
1000GenomesEast AsianSub1008A=0.975G=0.025
1000GenomesEuropeSub1006A=0.931G=0.069
1000GenomesGlobalStudy-wide5008A=0.886G=0.114
1000GenomesSouth AsianSub978A=0.850G=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.940G=0.060
The Genome Aggregation DatabaseAfricanSub8692A=0.803G=0.197
The Genome Aggregation DatabaseAmericanSub836A=0.920G=0.080
The Genome Aggregation DatabaseEast AsianSub1620A=0.967G=0.033
The Genome Aggregation DatabaseEuropeSub18482A=0.940G=0.059
The Genome Aggregation DatabaseGlobalStudy-wide29932A=0.901G=0.098
The Genome Aggregation DatabaseOtherSub302A=0.920G=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.876G=0.123
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.941G=0.059
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs24837670.00021alcohol dependence20201924

eQTL of rs2483767 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 rs2483767 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 )
chr62009586920095992E067-32565
chr62009635520096414E067-32143
chr62009635520096414E068-32143
chr62009708020097130E068-31427
chr62009763120097681E068-30876
chr62012652520127858E068-699
chr62015973620159816E06831179
chr62016060620160719E06832049
chr62009586920095992E069-32565
chr62009708020097130E069-31427
chr62015973620159816E06931179
chr62016060620160719E06932049
chr62009586920095992E071-32565
chr62009635520096414E071-32143
chr62009708020097130E071-31427
chr62012652520127858E071-699
chr62016060620160719E07132049
chr62016083020160955E07132273
chr62009586920095992E072-32565
chr62009635520096414E072-32143
chr62009708020097130E072-31427
chr62015973620159816E07231179
chr62016060620160719E07232049
chr62016083020160955E07232273
chr62016101120161088E07232454
chr62009586920095992E074-32565
chr62009635520096414E074-32143
chr62009708020097130E074-31427
chr62009763120097681E074-30876
chr62016060620160719E07432049
chr62016083020160955E07432273
chr62016101120161088E07432454
chr62009858720098724E082-29833
chr62009895520099009E082-29548