rs2351117

Homo sapiens
C>T
FAM117B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0410 (12247/29808,GnomAD)
T=0404 (11765/29118,TOPMED)
T=0371 (1856/5008,1000G)
C==0424 (1633/3854,ALSPAC)
C==0436 (1618/3708,TWINSUK)
chr2:202762689 (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.202762689C>T
GRCh37.p13 chr 2NC_000002.11:g.203627412C>T

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
1000GenomesAfricanSub1322C=0.873T=0.127
1000GenomesAmericanSub694C=0.590T=0.410
1000GenomesEast AsianSub1008C=0.678T=0.322
1000GenomesEuropeSub1006C=0.447T=0.553
1000GenomesGlobalStudy-wide5008C=0.629T=0.371
1000GenomesSouth AsianSub978C=0.460T=0.540
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.424T=0.576
The Genome Aggregation DatabaseAfricanSub8666C=0.808T=0.192
The Genome Aggregation DatabaseAmericanSub834C=0.600T=0.400
The Genome Aggregation DatabaseEast AsianSub1602C=0.719T=0.281
The Genome Aggregation DatabaseEuropeSub18406C=0.478T=0.521
The Genome Aggregation DatabaseGlobalStudy-wide29808C=0.589T=0.410
The Genome Aggregation DatabaseOtherSub300C=0.340T=0.660
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.596T=0.404
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.436T=0.564
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
rs23511170.00053alcohol dependence20201924

eQTL of rs2351117 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 rs2351117 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 )
chr2203671966203672025E06744554
chr2203672117203672499E06744705
chr2203671966203672025E06844554
chr2203671966203672025E06944554
chr2203672117203672499E06944705
chr2203672570203672802E06945158
chr2203623408203623627E071-3785
chr2203671966203672025E07144554
chr2203672117203672499E07144705
chr2203672570203672802E07145158
chr2203671966203672025E07244554
chr2203672117203672499E07244705
chr2203621964203622400E073-5012
chr2203671966203672025E07344554
chr2203672117203672499E07344705
chr2203672570203672802E07345158
chr2203671966203672025E07444554
chr2203672117203672499E07444705
chr2203672570203672802E07445158
chr2203671966203672025E08144554