rs8069451

Homo sapiens
T>C
FBXL20 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0375 (11234/29902,GnomAD)
C=0455 (13253/29118,TOPMED)
C=0373 (1866/5008,1000G)
C=0251 (969/3854,ALSPAC)
C=0260 (964/3708,TWINSUK)
chr17:39348680 (GRCh38.p7) (17q12)
AD
GWASdb2
1   publication(s)
See rs on genome
72 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.39348680T>C
GRCh37.p13 chr 17NC_000017.10:g.37504933T>C

Gene: FBXL20, F-box and leucine-rich repeat protein 20(minus strand)

Molecule type Change Amino acid[Codon] SO Term
FBXL20 transcript variant 2NM_001184906.1:c.N/AIntron Variant
FBXL20 transcript variant 1NM_032875.2:c.N/AIntron Variant
FBXL20 transcript variant X2XM_005257746.3:c.N/AIntron Variant
FBXL20 transcript variant X1XM_005257747.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.252C=0.748
1000GenomesAmericanSub694T=0.660C=0.340
1000GenomesEast AsianSub1008T=0.714C=0.286
1000GenomesEuropeSub1006T=0.754C=0.246
1000GenomesGlobalStudy-wide5008T=0.627C=0.373
1000GenomesSouth AsianSub978T=0.890C=0.110
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.749C=0.251
The Genome Aggregation DatabaseAfricanSub8708T=0.305C=0.695
The Genome Aggregation DatabaseAmericanSub838T=0.690C=0.310
The Genome Aggregation DatabaseEast AsianSub1612T=0.684C=0.316
The Genome Aggregation DatabaseEuropeSub18442T=0.766C=0.233
The Genome Aggregation DatabaseGlobalStudy-wide29902T=0.624C=0.375
The Genome Aggregation DatabaseOtherSub302T=0.640C=0.360
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.544C=0.455
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.740C=0.260
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
rs80694510.00082alcohol dependence20201924

eQTL of rs8069451 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 rs8069451 in Fetal Brain

Probe ID Position Gene beta p-value
cg07936489chr17:37558343FBXL200.01865034941906515.7053e-14
cg00129232chr17:37814104STARD30.006126988067202611.1270e-10
cg15445000chr17:37608096MED1-0.04215772067892642.0209e-10
cg20243544chr17:37824526PNMT-0.0140891104521861.2847e-9
cg07936489chr17:37558343FBXL200.0186503495.7100e-14

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 )
chr173746289037463100E067-41833
chr173746316737463309E067-41624
chr173751386237514579E0678929
chr173751611437516171E06711181
chr173751648837516581E06711555
chr173751691737517090E06711984
chr173751733237517382E06712399
chr173751748037517548E06712547
chr173752197737522114E06717044
chr173752229537522372E06717362
chr173752257237522676E06717639
chr173754134337541393E06736410
chr173746227437462402E068-42531
chr173746247637462567E068-42366
chr173746257937462714E068-42219
chr173746276037462810E068-42123
chr173746289037463100E068-41833
chr173746316737463309E068-41624
chr173751648837516581E06811555
chr173751691737517090E06811984
chr173751733237517382E06812399
chr173751748037517548E06812547
chr173753639237536664E06831459
chr173750876737508817E0693834
chr173750887737509027E0693944
chr173750906937509228E0694136
chr173750924637509478E0694313
chr173751648837516581E06911555
chr173751691737517090E06911984
chr173751733237517382E06912399
chr173751748037517548E06912547
chr173752229537522372E06917362
chr173753639237536664E06931459
chr173751538737515442E07010454
chr173751691737517090E07011984
chr173751733237517382E07012399
chr173751748037517548E07012547
chr173746227437462402E071-42531
chr173746247637462567E071-42366
chr173746257937462714E071-42219
chr173746276037462810E071-42123
chr173746289037463100E071-41833
chr173746316737463309E071-41624
chr173749095337491073E071-13860
chr173751386237514579E0718929
chr173751611437516171E07111181
chr173751648837516581E07111555
chr173751691737517090E07111984
chr173751733237517382E07112399
chr173751748037517548E07112547
chr173751768337517751E07112750
chr173752197737522114E07117044
chr173752229537522372E07117362
chr173752257237522676E07117639
chr173753639237536664E07131459
chr173751648837516581E07211555
chr173751691737517090E07211984
chr173751733237517382E07212399
chr173751748037517548E07212547
chr173752197737522114E07217044
chr173752229537522372E07217362
chr173752257237522676E07217639
chr173746316737463309E073-41624
chr173751691737517090E07311984
chr173751733237517382E07312399
chr173751648837516581E07411555
chr173751691737517090E07411984
chr173751733237517382E07412399
chr173751748037517548E07412547
chr173752257237522676E07417639
chr173753727237537359E07432339
chr173753811437538164E07433181