rs11744308

Homo sapiens
A>T
FBXL17 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0302 (9035/29864,GnomAD)
T=0278 (8116/29118,TOPMED)
T=0315 (1580/5008,1000G)
T=0290 (1116/3854,ALSPAC)
T=0285 (1056/3708,TWINSUK)
chr5:107974502 (GRCh38.p7) (5q21.3)
ND
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.107974502A>T
GRCh37.p13 chr 5NC_000005.9:g.107310203A>T

Gene: FBXL17, F-box and leucine-rich repeat protein 17(minus strand)

Molecule type Change Amino acid[Codon] SO Term
FBXL17 transcriptNM_001163315.2:c.N/AIntron Variant
FBXL17 transcript variant X1XM_005272048.4:c.N/AIntron Variant
FBXL17 transcript variant X2XM_011543574.2:c.N/AIntron Variant
FBXL17 transcript variant X3XM_011543575.2:c.N/AIntron Variant
FBXL17 transcript variant X11XM_005272050.4:c.N/AGenic Downstream Transcript Variant
FBXL17 transcript variant X4XM_011543576.2:c.N/AGenic Downstream Transcript Variant
FBXL17 transcript variant X5XM_011543577.2:c.N/AGenic Downstream Transcript Variant
FBXL17 transcript variant X6XM_011543578.2:c.N/AGenic Downstream Transcript Variant
FBXL17 transcript variant X8XM_011543579.2:c.N/AGenic Downstream Transcript Variant
FBXL17 transcript variant X9XM_011543580.2:c.N/AGenic Downstream Transcript Variant
FBXL17 transcript variant X7XM_017009729.1:c.N/AGenic Downstream Transcript Variant
FBXL17 transcript variant X10XR_427717.3:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.714T=0.286
1000GenomesAmericanSub694A=0.770T=0.230
1000GenomesEast AsianSub1008A=0.611T=0.389
1000GenomesEuropeSub1006A=0.716T=0.284
1000GenomesGlobalStudy-wide5008A=0.685T=0.315
1000GenomesSouth AsianSub978A=0.630T=0.370
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.710T=0.290
The Genome Aggregation DatabaseAfricanSub8692A=0.726T=0.274
The Genome Aggregation DatabaseAmericanSub830A=0.760T=0.240
The Genome Aggregation DatabaseEast AsianSub1600A=0.607T=0.393
The Genome Aggregation DatabaseEuropeSub18440A=0.689T=0.310
The Genome Aggregation DatabaseGlobalStudy-wide29864A=0.697T=0.302
The Genome Aggregation DatabaseOtherSub302A=0.660T=0.340
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.721T=0.278
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.715T=0.285
PMID Title Author Journal
17158188Novel genes identified in a high-density genome wide association study for nicotine dependence.Bierut LJHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs117443080.000669nicotine dependence17158188

eQTL of rs11744308 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 rs11744308 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 )
chr5107272285107272380E068-37823
chr5107272929107273341E068-36862
chr5107273369107273630E068-36573
chr5107272929107273341E070-36862
chr5107273369107273630E070-36573
chr5107273643107274145E070-36058
chr5107273369107273630E074-36573
chr5107271421107271593E081-38610
chr5107272929107273341E081-36862
chr5107273369107273630E081-36573
chr5107305645107305962E081-4241
chr5107333136107333277E08122933
chr5107333333107333543E08123130
chr5107333573107333750E08123370
chr5107341603107341647E08131400
chr5107271421107271593E082-38610
chr5107272929107273341E082-36862
chr5107273369107273630E082-36573
chr5107273643107274145E082-36058
chr5107333136107333277E08222933
chr5107333333107333543E08223130
chr5107333573107333750E08223370
chr5107341603107341647E08231400
chr5107342540107343200E08232337