rs7254518

Homo sapiens
G>A
CYP4F8 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0465 (13911/29876,GnomAD)
A=0443 (12899/29118,TOPMED)
A=0388 (1943/5008,1000G)
G==0468 (1805/3854,ALSPAC)
G==0472 (1751/3708,TWINSUK)
chr19:15616955 (GRCh38.p7) (19p13.12)
AD
GWASdb2
1   publication(s)
See rs on genome
15 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.15616955G>A
GRCh37.p13 chr 19NC_000019.9:g.15727766G>A
CYP4F8 RefSeqGeneNG_008068.1:g.6738G>A

Gene: CYP4F8, cytochrome P450 family 4 subfamily F member 8(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CYP4F8 transcriptNM_007253.3:c.N/AIntron Variant
CYP4F8 transcript variant X1XM_017026232.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.609A=0.391
1000GenomesAmericanSub694G=0.660A=0.340
1000GenomesEast AsianSub1008G=0.737A=0.263
1000GenomesEuropeSub1006G=0.468A=0.532
1000GenomesGlobalStudy-wide5008G=0.612A=0.388
1000GenomesSouth AsianSub978G=0.600A=0.400
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.468A=0.532
The Genome Aggregation DatabaseAfricanSub8696G=0.623A=0.377
The Genome Aggregation DatabaseAmericanSub838G=0.650A=0.350
The Genome Aggregation DatabaseEast AsianSub1614G=0.726A=0.274
The Genome Aggregation DatabaseEuropeSub18426G=0.470A=0.529
The Genome Aggregation DatabaseGlobalStudy-wide29876G=0.534A=0.465
The Genome Aggregation DatabaseOtherSub302G=0.540A=0.460
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.557A=0.443
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.472A=0.528
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs72545184.23E-05alcohol consumption23953852

eQTL of rs7254518 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 rs7254518 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 )
chr191575092415752286E06923158
chr191575236915752419E06924603
chr191575271315752763E06924947
chr191572543915725567E070-2199
chr191572568215725732E070-2034
chr191575092415752286E07223158
chr191573970615739837E07311940
chr191573995315740017E07312187
chr191574580915746528E07318043
chr191574694215747176E07319176
chr191575069915750770E07322933
chr191575092415752286E07323158
chr191575236915752419E07324603
chr191573995315740017E08112187
chr191574006015740566E08112294