rs7602496

Homo sapiens
C>A / C>T
FAM117B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0460 (13797/29932,GnomAD)
C==0388 (11310/29118,TOPMED)
C==0481 (2410/5008,1000G)
C==0439 (1693/3854,ALSPAC)
C==0457 (1695/3708,TWINSUK)
chr2:202737484 (GRCh38.p7) (2q33.2)
AD
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.202737484C>A
GRCh38.p7 chr 2NC_000002.12:g.202737484C>T
GRCh37.p13 chr 2NC_000002.11:g.203602207C>A
GRCh37.p13 chr 2NC_000002.11:g.203602207C>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=0.265A=0.735
1000GenomesAmericanSub694C=0.560A=0.440
1000GenomesEast AsianSub1008C=0.750A=0.250
1000GenomesEuropeSub1006C=0.462A=0.538
1000GenomesGlobalStudy-wide5008C=0.481A=0.519
1000GenomesSouth AsianSub978C=0.460A=0.540
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.439A=0.561
The Genome Aggregation DatabaseAfricanSub8712C=0.320A=0.680
The Genome Aggregation DatabaseAmericanSub836C=0.580A=0.42,
The Genome Aggregation DatabaseEast AsianSub1610C=0.786A=0.214
The Genome Aggregation DatabaseEuropeSub18472C=0.494A=0.505
The Genome Aggregation DatabaseGlobalStudy-wide29932C=0.460A=0.539
The Genome Aggregation DatabaseOtherSub302C=0.380A=0.62,
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.388A=0.611
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.457A=0.543
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
rs76024960.00082alcohol dependence20201924
rs76024960.00093alcohol dependence(early age of onset)20201924

eQTL of rs7602496 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 rs7602496 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 )
chr2103097385103097589E07040705