rs10069340

Homo sapiens
G>A
FBXL17 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0227 (6818/29912,GnomAD)
G==0222 (6467/29118,TOPMED)
G==0286 (1430/5008,1000G)
G==0224 (862/3854,ALSPAC)
G==0220 (816/3708,TWINSUK)
chr5:107898090 (GRCh38.p7) (5q21.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.107898090G>A
GRCh37.p13 chr 5NC_000005.9:g.107233791G>A

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 X11XM_005272050.4:c.N/AGenic Downstream Transcript Variant
FBXL17 transcript variant X2XM_011543574.2:c.N/AGenic Downstream Transcript Variant
FBXL17 transcript variant X3XM_011543575.2: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
1000GenomesAfricanSub1322G=0.212A=0.788
1000GenomesAmericanSub694G=0.230A=0.770
1000GenomesEast AsianSub1008G=0.540A=0.460
1000GenomesEuropeSub1006G=0.203A=0.797
1000GenomesGlobalStudy-wide5008G=0.286A=0.714
1000GenomesSouth AsianSub978G=0.240A=0.760
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.224A=0.776
The Genome Aggregation DatabaseAfricanSub8704G=0.212A=0.788
The Genome Aggregation DatabaseAmericanSub838G=0.230A=0.770
The Genome Aggregation DatabaseEast AsianSub1592G=0.511A=0.489
The Genome Aggregation DatabaseEuropeSub18476G=0.212A=0.788
The Genome Aggregation DatabaseGlobalStudy-wide29912G=0.227A=0.772
The Genome Aggregation DatabaseOtherSub302G=0.170A=0.830
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.222A=0.777
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.220A=0.780
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs100693400.000976alcohol dependence21314694

eQTL of rs10069340 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 rs10069340 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 )
chr5107204772107204940E068-28851
chr5107205056107205753E068-28038
chr5107272285107272380E06838494
chr5107272929107273341E06839138
chr5107273369107273630E06839578
chr5107253790107253897E07019999
chr5107272929107273341E07039138
chr5107273369107273630E07039578
chr5107273643107274145E07039852
chr5107208697107208741E071-25050
chr5107229440107229663E071-4128
chr5107229746107229840E071-3951
chr5107229943107230368E071-3423
chr5107273369107273630E07439578
chr5107212585107212760E081-21031
chr5107212874107212981E081-20810
chr5107251268107251350E08117477
chr5107252289107252333E08118498
chr5107253790107253897E08119999
chr5107271421107271593E08137630
chr5107272929107273341E08139138
chr5107273369107273630E08139578
chr5107200578107200809E082-32982
chr5107211587107211865E082-21926
chr5107211904107212264E082-21527
chr5107212585107212760E082-21031
chr5107212874107212981E082-20810
chr5107250496107250743E08216705
chr5107251268107251350E08217477
chr5107252289107252333E08218498
chr5107253790107253897E08219999
chr5107271421107271593E08237630
chr5107272929107273341E08239138
chr5107273369107273630E08239578
chr5107273643107274145E08239852