rs13341996

Homo sapiens
C>T
FBXL20 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0376 (11272/29938,GnomAD)
T=0461 (13438/29118,TOPMED)
T=0367 (1839/5008,1000G)
T=0254 (979/3854,ALSPAC)
T=0263 (976/3708,TWINSUK)
chr17:39380609 (GRCh38.p7) (17q12)
AD
GWASdb2
1   publication(s)
See rs on genome
72 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.39380609C>T
GRCh37.p13 chr 17NC_000017.10:g.37536862C>T

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
1000GenomesAfricanSub1322C=0.261T=0.739
1000GenomesAmericanSub694C=0.660T=0.340
1000GenomesEast AsianSub1008C=0.737T=0.263
1000GenomesEuropeSub1006C=0.749T=0.251
1000GenomesGlobalStudy-wide5008C=0.633T=0.367
1000GenomesSouth AsianSub978C=0.890T=0.110
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.746T=0.254
The Genome Aggregation DatabaseAfricanSub8712C=0.306T=0.694
The Genome Aggregation DatabaseAmericanSub836C=0.690T=0.310
The Genome Aggregation DatabaseEast AsianSub1606C=0.696T=0.304
The Genome Aggregation DatabaseEuropeSub18482C=0.763T=0.236
The Genome Aggregation DatabaseGlobalStudy-wide29938C=0.623T=0.376
The Genome Aggregation DatabaseOtherSub302C=0.650T=0.350
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.538T=0.461
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.737T=0.263
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
rs133419960.000937alcohol dependence20201924

eQTL of rs13341996 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 rs13341996 in Fetal Brain

Probe ID Position Gene beta p-value
cg07936489chr17:37558343FBXL200.01935275114124914.8088e-14
cg00129232chr17:37814104STARD30.006339367690488941.1503e-10
cg15445000chr17:37608096MED1-0.0432019135838473.2231e-10
cg20243544chr17:37824526PNMT-0.01488846036901725.2112e-10

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 )
chr173751386237514579E067-22283
chr173751611437516171E067-20691
chr173751648837516581E067-20281
chr173751691737517090E067-19772
chr173751733237517382E067-19480
chr173751748037517548E067-19314
chr173752197737522114E067-14748
chr173752229537522372E067-14490
chr173752257237522676E067-14186
chr173754134337541393E0674481
chr173755575637555808E06718894
chr173755588837555928E06719026
chr173755614737556212E06719285
chr173751648837516581E068-20281
chr173751691737517090E068-19772
chr173751733237517382E068-19480
chr173751748037517548E068-19314
chr173753639237536664E068-198
chr173755614737556212E06819285
chr173750876737508817E069-28045
chr173750887737509027E069-27835
chr173750906937509228E069-27634
chr173750924637509478E069-27384
chr173751648837516581E069-20281
chr173751691737517090E069-19772
chr173751733237517382E069-19480
chr173751748037517548E069-19314
chr173752229537522372E069-14490
chr173753639237536664E069-198
chr173755614737556212E06919285
chr173751538737515442E070-21420
chr173751691737517090E070-19772
chr173751733237517382E070-19480
chr173751748037517548E070-19314
chr173755575637555808E07018894
chr173755588837555928E07019026
chr173749095337491073E071-45789
chr173751386237514579E071-22283
chr173751611437516171E071-20691
chr173751648837516581E071-20281
chr173751691737517090E071-19772
chr173751733237517382E071-19480
chr173751748037517548E071-19314
chr173751768337517751E071-19111
chr173752197737522114E071-14748
chr173752229537522372E071-14490
chr173752257237522676E071-14186
chr173753639237536664E071-198
chr173755614737556212E07119285
chr173751648837516581E072-20281
chr173751691737517090E072-19772
chr173751733237517382E072-19480
chr173751748037517548E072-19314
chr173752197737522114E072-14748
chr173752229537522372E072-14490
chr173752257237522676E072-14186
chr173755614737556212E07219285
chr173751691737517090E073-19772
chr173751733237517382E073-19480
chr173751648837516581E074-20281
chr173751691737517090E074-19772
chr173751733237517382E074-19480
chr173751748037517548E074-19314
chr173752257237522676E074-14186
chr173753727237537359E074410
chr173753811437538164E0741252
chr173755485837554943E08117996
chr173755575637555808E08118894
chr173755588837555928E08119026
chr173755614737556212E08119285
chr173755575637555808E08218894
chr173755588837555928E08219026










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr173755660737559334E06719745
chr173755660737559334E06819745
chr173755660737559334E06919745
chr173755660737559334E07019745
chr173755660737559334E07119745
chr173755660737559334E07219745
chr173755660737559334E07319745
chr173755660737559334E07419745
chr173755660737559334E08119745
chr173755660737559334E08219745