rs7581854

Homo sapiens
T>C
FAM117B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0476 (14275/29936,GnomAD)
T==0497 (14492/29118,TOPMED)
C=0444 (2222/5008,1000G)
T==0417 (1609/3854,ALSPAC)
T==0432 (1602/3708,TWINSUK)
chr2:202742031 (GRCh38.p7) (2q33.2)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.202742031T>C
GRCh37.p13 chr 2NC_000002.11:g.203606754T>C

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
1000GenomesAfricanSub1322T=0.611C=0.389
1000GenomesAmericanSub694T=0.570C=0.430
1000GenomesEast AsianSub1008T=0.678C=0.322
1000GenomesEuropeSub1006T=0.443C=0.557
1000GenomesGlobalStudy-wide5008T=0.556C=0.444
1000GenomesSouth AsianSub978T=0.460C=0.540
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.417C=0.583
The Genome Aggregation DatabaseAfricanSub8710T=0.587C=0.413
The Genome Aggregation DatabaseAmericanSub836T=0.590C=0.410
The Genome Aggregation DatabaseEast AsianSub1618T=0.714C=0.286
The Genome Aggregation DatabaseEuropeSub18472T=0.476C=0.524
The Genome Aggregation DatabaseGlobalStudy-wide29936T=0.523C=0.476
The Genome Aggregation DatabaseOtherSub300T=0.350C=0.650
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.497C=0.502
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.432C=0.568
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
rs75818540.0004alcohol dependence(early age of onset)20201924
rs75818540.00084alcohol dependence20201924

eQTL of rs7581854 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 rs7581854 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 )
chr2203623408203623627E07116654
chr2203621964203622400E07315210