rs4876460

Homo sapiens
T>C
CSMD3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0338 (10119/29942,GnomAD)
T==0274 (7981/29118,TOPMED)
T==0291 (1458/5008,1000G)
T==0445 (1714/3854,ALSPAC)
T==0464 (1721/3708,TWINSUK)
chr8:112234021 (GRCh38.p7) (8q23.3)
AD
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.112234021T>C
GRCh37.p13 chr 8NC_000008.10:g.113246250T>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=0.054C=0.946
1000GenomesAmericanSub694T=0.420C=0.580
1000GenomesEast AsianSub1008T=0.238C=0.762
1000GenomesEuropeSub1006T=0.439C=0.561
1000GenomesGlobalStudy-wide5008T=0.291C=0.709
1000GenomesSouth AsianSub978T=0.420C=0.580
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.445C=0.555
The Genome Aggregation DatabaseAfricanSub8728T=0.107C=0.893
The Genome Aggregation DatabaseAmericanSub836T=0.420C=0.580
The Genome Aggregation DatabaseEast AsianSub1618T=0.227C=0.773
The Genome Aggregation DatabaseEuropeSub18460T=0.453C=0.547
The Genome Aggregation DatabaseGlobalStudy-wide29942T=0.338C=0.662
The Genome Aggregation DatabaseOtherSub300T=0.350C=0.650
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.274C=0.725
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.464C=0.536
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs48764600.000973alcohol dependence21314694

eQTL of rs4876460 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 rs4876460 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 )
chr8113280504113280562E07034254
chr8113280504113280562E07134254
chr8113280504113280562E07434254
chr8113280504113280562E08134254