rs6995441

Homo sapiens
T>C
CSMD3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0431 (12857/29834,GnomAD)
C=0486 (14159/29118,TOPMED)
C=0424 (2124/5008,1000G)
C=0326 (1258/3854,ALSPAC)
C=0323 (1198/3708,TWINSUK)
chr8:112243993 (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.112243993T>C
GRCh37.p13 chr 8NC_000008.10:g.113256222T>C

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
1000GenomesAfricanSub1322T=0.278C=0.722
1000GenomesAmericanSub694T=0.750C=0.250
1000GenomesEast AsianSub1008T=0.584C=0.416
1000GenomesEuropeSub1006T=0.681C=0.319
1000GenomesGlobalStudy-wide5008T=0.576C=0.424
1000GenomesSouth AsianSub978T=0.740C=0.260
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.674C=0.326
The Genome Aggregation DatabaseAfricanSub8682T=0.318C=0.682
The Genome Aggregation DatabaseAmericanSub838T=0.770C=0.230
The Genome Aggregation DatabaseEast AsianSub1604T=0.579C=0.421
The Genome Aggregation DatabaseEuropeSub18408T=0.676C=0.323
The Genome Aggregation DatabaseGlobalStudy-wide29834T=0.569C=0.431
The Genome Aggregation DatabaseOtherSub302T=0.600C=0.400
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.513C=0.486
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.677C=0.323
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
rs69954419.47E-05cocaine dependence23958962

eQTL of rs6995441 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 rs6995441 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 )
chr8113280504113280562E07024282
chr8113280504113280562E07124282
chr8113280504113280562E07424282
chr8113280504113280562E08124282