rs11685819

Homo sapiens
G>A
FAM117B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0462 (13841/29906,GnomAD)
A=0484 (14115/29118,TOPMED)
A=0432 (2161/5008,1000G)
G==0423 (1632/3854,ALSPAC)
G==0437 (1621/3708,TWINSUK)
chr2:202764034 (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.202764034G>A
GRCh37.p13 chr 2NC_000002.11:g.203628757G>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=0.653A=0.347
1000GenomesAmericanSub694G=0.580A=0.420
1000GenomesEast AsianSub1008G=0.678A=0.322
1000GenomesEuropeSub1006G=0.445A=0.555
1000GenomesGlobalStudy-wide5008G=0.568A=0.432
1000GenomesSouth AsianSub978G=0.460A=0.540
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.423A=0.577
The Genome Aggregation DatabaseAfricanSub8702G=0.628A=0.372
The Genome Aggregation DatabaseAmericanSub836G=0.590A=0.410
The Genome Aggregation DatabaseEast AsianSub1616G=0.720A=0.280
The Genome Aggregation DatabaseEuropeSub18450G=0.479A=0.521
The Genome Aggregation DatabaseGlobalStudy-wide29906G=0.537A=0.462
The Genome Aggregation DatabaseOtherSub302G=0.330A=0.670
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.515A=0.484
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
rs116858190.00046alcohol dependence(early age of onset)20201924
rs116858190.00074alcohol dependence20201924

eQTL of rs11685819 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 rs11685819 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 )
chr2203671966203672025E06743209
chr2203672117203672499E06743360
chr2203671966203672025E06843209
chr2203671966203672025E06943209
chr2203672117203672499E06943360
chr2203672570203672802E06943813
chr2203623408203623627E071-5130
chr2203671966203672025E07143209
chr2203672117203672499E07143360
chr2203672570203672802E07143813
chr2203671966203672025E07243209
chr2203672117203672499E07243360
chr2203621964203622400E073-6357
chr2203671966203672025E07343209
chr2203672117203672499E07343360
chr2203672570203672802E07343813
chr2203671966203672025E07443209
chr2203672117203672499E07443360
chr2203672570203672802E07443813
chr2203671966203672025E08143209