rs12514413

Homo sapiens
T>C
FBXL17 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0178 (5337/29876,GnomAD)
C=0140 (4092/29118,TOPMED)
C=0126 (629/5008,1000G)
C=0229 (884/3854,ALSPAC)
C=0232 (862/3708,TWINSUK)
chr5:107988165 (GRCh38.p7) (5q21.3)
ND
GWASdb2
1   publication(s)
See rs on genome
10 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.107988165T>C
GRCh37.p13 chr 5NC_000005.9:g.107323866T>C

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
1000GenomesAfricanSub1322T=0.977C=0.023
1000GenomesAmericanSub694T=0.820C=0.180
1000GenomesEast AsianSub1008T=0.938C=0.062
1000GenomesEuropeSub1006T=0.774C=0.226
1000GenomesGlobalStudy-wide5008T=0.874C=0.126
1000GenomesSouth AsianSub978T=0.810C=0.190
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.771C=0.229
The Genome Aggregation DatabaseAfricanSub8724T=0.950C=0.050
The Genome Aggregation DatabaseAmericanSub826T=0.820C=0.180
The Genome Aggregation DatabaseEast AsianSub1618T=0.902C=0.098
The Genome Aggregation DatabaseEuropeSub18406T=0.755C=0.245
The Genome Aggregation DatabaseGlobalStudy-wide29876T=0.821C=0.178
The Genome Aggregation DatabaseOtherSub302T=0.740C=0.260
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.859C=0.140
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.768C=0.232
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
rs125144130.00043nicotine dependence17158188

eQTL of rs12514413 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 rs12514413 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 )
chr5107305645107305962E081-17904
chr5107333136107333277E0819270
chr5107333333107333543E0819467
chr5107333573107333750E0819707
chr5107341603107341647E08117737
chr5107333136107333277E0829270
chr5107333333107333543E0829467
chr5107333573107333750E0829707
chr5107341603107341647E08217737
chr5107342540107343200E08218674