rs10251693

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
T==0120 (3602/29810,GnomAD)
T==0085 (2494/29118,TOPMED)
T==0139 (694/5008,1000G)
T==0105 (403/3854,ALSPAC)
T==0107 (398/3708,TWINSUK)
chr7:115643559 (GRCh38.p7) (7q31.2)
CD
GWASdb2
1   publication(s)
See rs on genome
5 Enhancers around
1 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.115643559T>C
GRCh37.p13 chr 7NC_000007.13:g.115283613T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.020C=0.980
1000GenomesAmericanSub694T=0.150C=0.850
1000GenomesEast AsianSub1008T=0.355C=0.645
1000GenomesEuropeSub1006T=0.108C=0.892
1000GenomesGlobalStudy-wide5008T=0.139C=0.861
1000GenomesSouth AsianSub978T=0.100C=0.900
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.105C=0.895
The Genome Aggregation DatabaseAfricanSub8730T=0.038C=0.962
The Genome Aggregation DatabaseAmericanSub836T=0.140C=0.860
The Genome Aggregation DatabaseEast AsianSub1578T=0.363C=0.637
The Genome Aggregation DatabaseEuropeSub18364T=0.138C=0.861
The Genome Aggregation DatabaseGlobalStudy-wide29810T=0.120C=0.879
The Genome Aggregation DatabaseOtherSub302T=0.110C=0.890
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.085C=0.914
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.107C=0.893
PMID Title Author Journal
23958962Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.Gelernter JMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs102516930.000011cocaine dependence,AA23958962
rs102516930.0000712cocaine dependence23958962

eQTL of rs10251693 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 rs10251693 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 )
chr7115303234115303410E07019621
chr7115303451115303544E07019838
chr7115319191115319688E07035578
chr7115319765115319815E07036152
chr7115319929115320416E07036316

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr7115280425115280517E081-3096