rs6709463

Homo sapiens
C>T
FAM117B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0460 (13761/29886,GnomAD)
C==0386 (11242/29118,TOPMED)
C==0481 (2409/5008,1000G)
C==0438 (1689/3854,ALSPAC)
C==0456 (1691/3708,TWINSUK)
chr2:202680475 (GRCh38.p7) (2q33.2)
AD
GWASdb2
1   publication(s)
See rs on genome
19 Enhancers around
24 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.202680475C>T
GRCh37.p13 chr 2NC_000002.11:g.203545198C>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=0.269T=0.731
1000GenomesAmericanSub694C=0.560T=0.440
1000GenomesEast AsianSub1008C=0.746T=0.254
1000GenomesEuropeSub1006C=0.466T=0.534
1000GenomesGlobalStudy-wide5008C=0.481T=0.519
1000GenomesSouth AsianSub978C=0.460T=0.540
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.438T=0.562
The Genome Aggregation DatabaseAfricanSub8712C=0.320T=0.680
The Genome Aggregation DatabaseAmericanSub834C=0.580T=0.420
The Genome Aggregation DatabaseEast AsianSub1614C=0.786T=0.214
The Genome Aggregation DatabaseEuropeSub18424C=0.494T=0.505
The Genome Aggregation DatabaseGlobalStudy-wide29886C=0.460T=0.539
The Genome Aggregation DatabaseOtherSub302C=0.380T=0.620
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.386T=0.613
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.456T=0.544
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
rs67094630.00096alcohol dependence20201924

eQTL of rs6709463 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 rs6709463 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 )
chr2203498656203498787E067-46411
chr2203508511203508609E067-36589
chr2203536042203536113E068-9085
chr2203536154203536324E068-8874
chr2203498656203498787E069-46411
chr2203498656203498787E071-46411
chr2203512936203512978E072-32220
chr2203498434203498478E081-46720
chr2203498656203498787E081-46411
chr2203502036203502076E081-43122
chr2203505566203505661E081-39537
chr2203511285203511325E081-33873
chr2203531137203531371E081-13827
chr2203531687203531821E081-13377
chr2203532346203532408E081-12790
chr2203536042203536113E081-9085
chr2203536154203536324E081-8874
chr2203536589203536685E081-8513
chr2203511285203511325E082-33873







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2203498791203501362E067-43836
chr2203501399203501501E067-43697
chr2203498791203501362E068-43836
chr2203501399203501501E068-43697
chr2203498791203501362E069-43836
chr2203501399203501501E069-43697
chr2203501525203501580E069-43618
chr2203498791203501362E070-43836
chr2203501399203501501E070-43697
chr2203501525203501580E070-43618
chr2203498791203501362E071-43836
chr2203501399203501501E071-43697
chr2203498791203501362E072-43836
chr2203501399203501501E072-43697
chr2203498791203501362E073-43836
chr2203501399203501501E073-43697
chr2203501525203501580E073-43618
chr2203498791203501362E074-43836
chr2203498791203501362E081-43836
chr2203501399203501501E081-43697
chr2203501525203501580E081-43618
chr2203498791203501362E082-43836
chr2203501399203501501E082-43697
chr2203501525203501580E082-43618