rs11783062

Homo sapiens
T>C / T>G
CSMD1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0425 (12719/29896,GnomAD)
G=0378 (11027/29118,TOPMED)
G=0373 (1870/5008,1000G)
G=0438 (1688/3854,ALSPAC)
G=0454 (1683/3708,TWINSUK)
chr8:4089803 (GRCh38.p7) (8p23.2)
AD
GWASdb2
1   publication(s)
See rs on genome
11 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.4089803T>C
GRCh38.p7 chr 8NC_000008.11:g.4089803T>G
GRCh37.p13 chr 8NC_000008.10:g.3947325T>C
GRCh37.p13 chr 8NC_000008.10:g.3947325T>G

Gene: CSMD1, CUB and Sushi multiple domains 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CSMD1 transcriptNM_033225.5:c.N/AIntron Variant
CSMD1 transcript variant X1XM_011534752.2:c.N/AIntron Variant
CSMD1 transcript variant X2XM_017013731.1:c.N/AIntron Variant
CSMD1 transcript variant X3XM_011534753.2:c.N/AGenic Upstream Transcript Variant
CSMD1 transcript variant X4XM_011534754.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.789G=0.211
1000GenomesAmericanSub694T=0.540G=0.460
1000GenomesEast AsianSub1008T=0.546G=0.454
1000GenomesEuropeSub1006T=0.519G=0.481
1000GenomesGlobalStudy-wide5008T=0.627G=0.373
1000GenomesSouth AsianSub978T=0.670G=0.330
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.562G=0.438
The Genome Aggregation DatabaseAfricanSub8696T=0.746G=0.253
The Genome Aggregation DatabaseAmericanSub836T=0.490G=0.51,
The Genome Aggregation DatabaseEast AsianSub1614T=0.595G=0.405
The Genome Aggregation DatabaseEuropeSub18448T=0.496G=0.503
The Genome Aggregation DatabaseGlobalStudy-wide29896T=0.574G=0.425
The Genome Aggregation DatabaseOtherSub302T=0.510G=0.49,
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.621G=0.378
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.546G=0.454
PMID Title Author Journal
23089632A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53.Wang JCMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs117830624.18E-06alcohol dependence23089632

eQTL of rs11783062 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 rs11783062 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 )
chr8136826486136827696E0698870
chr8136822726136822780E0705110
chr8136822807136822847E0705191
chr8136823026136823479E0705410
chr8136823522136823602E0705906
chr8136826486136827696E0708870
chr8136826486136827696E0818870
chr8136822807136822847E0825191
chr8136823026136823479E0825410
chr8136823522136823602E0825906
chr8136826486136827696E0828870