rs7051320

Homo sapiens
C>T
FMO3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0036 (1104/29966,GnomAD)
T=0055 (1612/29118,TOPMED)
T=0038 (188/5008,1000G)
T=0000 (0/3854,ALSPAC)
T=0001 (3/3708,TWINSUK)
chr1:171110559 (GRCh38.p7) (1q24.3)
AD
GWASdb2
1   publication(s)
See rs on genome
19 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.171110559C>T
GRCh37.p13 chr 1NC_000001.10:g.171079700C>T
FMO3 RefSeqGeneNG_012690.1:g.24683C>T

Gene: FMO3, flavin containing monooxygenase 3(plus strand)

Molecule type Change Amino acid[Codon] SO Term
FMO3 transcript variant 2NM_001002294.2:c.N/AIntron Variant
FMO3 transcript variant 3NM_001319173.1:c.N/AIntron Variant
FMO3 transcript variant 4NM_001319174.1:c.N/AIntron Variant
FMO3 transcript variant 1NM_006894.5:c.N/AIntron Variant
FMO3 transcript variant X1XM_011509345.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.864T=0.136
1000GenomesAmericanSub694C=0.990T=0.010
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=0.999T=0.001
1000GenomesGlobalStudy-wide5008C=0.962T=0.038
1000GenomesSouth AsianSub978C=1.000T=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=1.000T=0.000
The Genome Aggregation DatabaseAfricanSub8714C=0.874T=0.126
The Genome Aggregation DatabaseAmericanSub838C=1.000T=0.000
The Genome Aggregation DatabaseEast AsianSub1616C=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18496C=0.999T=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29966C=0.963T=0.036
The Genome Aggregation DatabaseOtherSub302C=1.000T=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.944T=0.055
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.999T=0.001
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
rs70513200.000498alcohol dependence21314694

eQTL of rs7051320 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 rs7051320 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 )
chr1171091612171091714E06811912
chr1171050474171051464E069-28236
chr1171051537171051692E069-28008
chr1171109006171109186E06929306
chr1171050332171050382E070-29318
chr1171050474171051464E070-28236
chr1171051537171051692E070-28008
chr1171110134171112451E07130434
chr1171050474171051464E072-28236
chr1171051537171051692E072-28008
chr1171051802171051852E072-27848
chr1171051854171051901E072-27799
chr1171051939171052014E072-27686
chr1171091836171092105E07212136
chr1171092154171092310E07212454
chr1171050474171051464E073-28236
chr1171051537171051692E073-28008
chr1171109385171109496E07329685
chr1171050474171051464E082-28236