rs12457387

Homo sapiens
C>G / C>T
None
Check p-value
SNV (Single Nucleotide Variation)
G=0183 (5507/29974,GnomAD)
G=0166 (4860/29118,TOPMED)
G=0171 (855/5008,1000G)
G=0250 (964/3854,ALSPAC)
G=0250 (927/3708,TWINSUK)
chr18:74224753 (GRCh38.p7) (18q22.3)
CD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.74224753C>G
GRCh38.p7 chr 18NC_000018.10:g.74224753C>T
GRCh37.p13 chr 18NC_000018.9:g.71891988C>G
GRCh37.p13 chr 18NC_000018.9:g.71891988C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.988G=0.012
1000GenomesAmericanSub694C=0.630G=0.370
1000GenomesEast AsianSub1008C=0.955G=0.045
1000GenomesEuropeSub1006C=0.767G=0.233
1000GenomesGlobalStudy-wide5008C=0.829G=0.171
1000GenomesSouth AsianSub978C=0.690G=0.310
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.750G=0.250
The Genome Aggregation DatabaseAfricanSub8724C=0.947G=0.053
The Genome Aggregation DatabaseAmericanSub838C=0.580G=0.420
The Genome Aggregation DatabaseEast AsianSub1622C=0.960G=0.040
The Genome Aggregation DatabaseEuropeSub18488C=0.752G=0.247
The Genome Aggregation DatabaseGlobalStudy-wide29974C=0.816G=0.183
The Genome Aggregation DatabaseOtherSub302C=0.860G=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.833G=0.166
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.750G=0.250
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
rs124573870.0000496cocaine dependence23958962
rs124573870.000438cocaine dependence23958962

eQTL of rs12457387 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 rs12457387 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 )
chr186247471262474752E070-19108
chr186247482062475141E070-18719