rs2351116

Homo sapiens
G>A
FAM117B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0467 (13982/29906,GnomAD)
A=0492 (14344/29118,TOPMED)
A=0439 (2197/5008,1000G)
G==0424 (1633/3854,ALSPAC)
G==0437 (1620/3708,TWINSUK)
chr2:202762588 (GRCh38.p7) (2q33.2)
AD
GWASdb2
1   publication(s)
See rs on genome
20 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.202762588G>A
GRCh37.p13 chr 2NC_000002.11:g.203627311G>A

Gene: FAM117B, family with sequence similarity 117 member B(plus strand)

Molecule type Change Amino acid[Codon] SO Term
FAM117B transcriptNM_173511.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.629A=0.371
1000GenomesAmericanSub694G=0.570A=0.430
1000GenomesEast AsianSub1008G=0.677A=0.323
1000GenomesEuropeSub1006G=0.446A=0.554
1000GenomesGlobalStudy-wide5008G=0.561A=0.439
1000GenomesSouth AsianSub978G=0.460A=0.540
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.424A=0.576
The Genome Aggregation DatabaseAfricanSub8692G=0.613A=0.387
The Genome Aggregation DatabaseAmericanSub838G=0.590A=0.410
The Genome Aggregation DatabaseEast AsianSub1612G=0.720A=0.280
The Genome Aggregation DatabaseEuropeSub18462G=0.479A=0.520
The Genome Aggregation DatabaseGlobalStudy-wide29906G=0.532A=0.467
The Genome Aggregation DatabaseOtherSub302G=0.330A=0.670
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.507A=0.492
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.437A=0.563
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
rs23511160.0004alcohol dependence(early age of onset)20201924
rs23511160.00061alcohol dependence20201924

eQTL of rs2351116 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 rs2351116 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 )
chr2203671966203672025E06744655
chr2203672117203672499E06744806
chr2203671966203672025E06844655
chr2203671966203672025E06944655
chr2203672117203672499E06944806
chr2203672570203672802E06945259
chr2203623408203623627E071-3684
chr2203671966203672025E07144655
chr2203672117203672499E07144806
chr2203672570203672802E07145259
chr2203671966203672025E07244655
chr2203672117203672499E07244806
chr2203621964203622400E073-4911
chr2203671966203672025E07344655
chr2203672117203672499E07344806
chr2203672570203672802E07345259
chr2203671966203672025E07444655
chr2203672117203672499E07444806
chr2203672570203672802E07445259
chr2203671966203672025E08144655