rs1420852

Homo sapiens
C>G
CSMD3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0431 (12838/29738,GnomAD)
G=0486 (14160/29118,TOPMED)
G=0424 (2124/5008,1000G)
G=0327 (1259/3854,ALSPAC)
G=0324 (1200/3708,TWINSUK)
chr8:112252548 (GRCh38.p7) (8q23.3)
CD
GWASdb2
1   publication(s)
See rs on genome
4 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.112252548C>G
GRCh37.p13 chr 8NC_000008.10:g.113264777C>G

Gene: CSMD3, CUB and Sushi multiple domains 3(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CSMD3 transcript variant cNM_052900.2:c.N/AIntron Variant
CSMD3 transcript variant aNM_198123.1:c.N/AIntron Variant
CSMD3 transcript variant bNM_198124.1:c.N/AIntron Variant
CSMD3 transcript variant X7XM_011516815.2:c.N/AIntron Variant
CSMD3 transcript variant X3XM_011516816.2:c.N/AIntron Variant
CSMD3 transcript variant X1XM_017013008.1:c.N/AIntron Variant
CSMD3 transcript variant X2XM_017013009.1:c.N/AIntron Variant
CSMD3 transcript variant X4XM_017013010.1:c.N/AIntron Variant
CSMD3 transcript variant X5XM_017013011.1:c.N/AIntron Variant
CSMD3 transcript variant X6XM_017013012.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.278G=0.722
1000GenomesAmericanSub694C=0.750G=0.250
1000GenomesEast AsianSub1008C=0.584G=0.416
1000GenomesEuropeSub1006C=0.681G=0.319
1000GenomesGlobalStudy-wide5008C=0.576G=0.424
1000GenomesSouth AsianSub978C=0.740G=0.260
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.673G=0.327
The Genome Aggregation DatabaseAfricanSub8702C=0.319G=0.681
The Genome Aggregation DatabaseAmericanSub814C=0.770G=0.230
The Genome Aggregation DatabaseEast AsianSub1602C=0.579G=0.421
The Genome Aggregation DatabaseEuropeSub18320C=0.676G=0.323
The Genome Aggregation DatabaseGlobalStudy-wide29738C=0.568G=0.431
The Genome Aggregation DatabaseOtherSub300C=0.610G=0.390
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.513G=0.486
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.676G=0.324
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
rs14208528E-06cocaine dependence23958962

eQTL of rs1420852 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 rs1420852 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 )
chr8113280504113280562E07015727
chr8113280504113280562E07115727
chr8113280504113280562E07415727
chr8113280504113280562E08115727