rs4533480

Homo sapiens
A>G
LOC105373718 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0009 (271/29986,GnomAD)
A==0012 (357/29118,TOPMED)
A==0011 (54/5008,1000G)
A==0000 (0/3854,ALSPAC)
A==0000 (0/3708,TWINSUK)
chr2:160581469 (GRCh38.p7) (2q24.2)
CD
GWASdb2
1   publication(s)
See rs on genome
3 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.160581469A>G
GRCh37.p13 chr 2NC_000002.11:g.161437980A>G

Gene: LOC105373718, uncharacterized LOC105373718(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105373718 transcriptXR_923526.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.039G=0.961
1000GenomesAmericanSub694A=0.000G=1.000
1000GenomesEast AsianSub1008A=0.000G=1.000
1000GenomesEuropeSub1006A=0.001G=0.999
1000GenomesGlobalStudy-wide5008A=0.011G=0.989
1000GenomesSouth AsianSub978A=0.000G=1.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.000G=1.000
The Genome Aggregation DatabaseAfricanSub8726A=0.031G=0.969
The Genome Aggregation DatabaseAmericanSub838A=0.000G=1.000
The Genome Aggregation DatabaseEast AsianSub1622A=0.000G=1.000
The Genome Aggregation DatabaseEuropeSub18498A=0.000G=0.999
The Genome Aggregation DatabaseGlobalStudy-wide29986A=0.009G=0.991
The Genome Aggregation DatabaseOtherSub302A=0.000G=1.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.012G=0.987
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.000G=1.000
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
rs45334800.000875cocaine dependence23958962

eQTL of rs4533480 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 rs4533480 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 )
chr2161487406161487579E06849426
chr2161487406161487579E06949426
chr2161487406161487579E07449426