rs9944711

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0476 (14247/29886,GnomAD)
C=0410 (11953/29118,TOPMED)
C=0343 (1717/5008,1000G)
T==0409 (1578/3854,ALSPAC)
T==0399 (1478/3708,TWINSUK)
chr18:27847010 (GRCh38.p7) (18q12.1)
CD
GWASdb2
1   publication(s)
See rs on genome
6 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.27847010T>C
GRCh37.p13 chr 18NC_000018.9:g.25426974T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.877C=0.123
1000GenomesAmericanSub694T=0.450C=0.550
1000GenomesEast AsianSub1008T=0.756C=0.244
1000GenomesEuropeSub1006T=0.415C=0.585
1000GenomesGlobalStudy-wide5008T=0.657C=0.343
1000GenomesSouth AsianSub978T=0.660C=0.340
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.409C=0.591
The Genome Aggregation DatabaseAfricanSub8696T=0.788C=0.212
The Genome Aggregation DatabaseAmericanSub830T=0.500C=0.500
The Genome Aggregation DatabaseEast AsianSub1610T=0.765C=0.235
The Genome Aggregation DatabaseEuropeSub18448T=0.380C=0.619
The Genome Aggregation DatabaseGlobalStudy-wide29886T=0.523C=0.476
The Genome Aggregation DatabaseOtherSub302T=0.390C=0.610
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.589C=0.410
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.399C=0.601
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
rs99447110.0000642cocaine dependence,AA23958962
rs99447110.000315cocaine dependence23958962

eQTL of rs9944711 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 rs9944711 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 )
chr182540495625405047E070-21927
chr182540513025405488E070-21486
chr182540549525405622E070-21352
chr182540569225405766E070-21208
chr182540583625406010E070-20964
chr182541203925412300E070-14674