rs1383951

Homo sapiens
C>T
CSMD1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0137 (4105/29950,GnomAD)
C==0122 (3575/29118,TOPMED)
C==0129 (645/5008,1000G)
C==0177 (682/3854,ALSPAC)
C==0178 (660/3708,TWINSUK)
chr8:3785733 (GRCh38.p7) (8p23.2)
AD
GWASdb2
1   publication(s)
See rs on genome
23 Enhancers around
3 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.3785733C>T
GRCh37.p13 chr 8NC_000008.10:g.3643255C>T

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
1000GenomesAfricanSub1322C=0.043T=0.957
1000GenomesAmericanSub694C=0.190T=0.810
1000GenomesEast AsianSub1008C=0.199T=0.801
1000GenomesEuropeSub1006C=0.164T=0.836
1000GenomesGlobalStudy-wide5008C=0.129T=0.871
1000GenomesSouth AsianSub978C=0.090T=0.910
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.177T=0.823
The Genome Aggregation DatabaseAfricanSub8732C=0.068T=0.932
The Genome Aggregation DatabaseAmericanSub834C=0.190T=0.810
The Genome Aggregation DatabaseEast AsianSub1614C=0.224T=0.776
The Genome Aggregation DatabaseEuropeSub18468C=0.159T=0.840
The Genome Aggregation DatabaseGlobalStudy-wide29950C=0.137T=0.862
The Genome Aggregation DatabaseOtherSub302C=0.110T=0.890
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.122T=0.877
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.178T=0.822
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs13839510.00078alcohol dependence20201924

eQTL of rs1383951 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 rs1383951 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 )
chr836358133635929E068-7326
chr836374943637570E070-5685
chr836376603637997E070-5258
chr836358133635929E071-7326
chr836176323617782E072-25473
chr836177973617891E072-25364
chr836179323618716E072-24539
chr836243963625011E072-18244
chr836355143635739E073-7516
chr836358133635929E073-7326
chr836364033636453E073-6802
chr836243963625011E081-18244
chr836364033636453E081-6802
chr836376603637997E081-5258
chr836649163665071E08121661
chr836652763665396E08122021
chr836654723665550E08122217
chr836759483676048E08132693
chr836762533676330E08132998
chr836374943637570E082-5685
chr836376603637997E082-5258
chr836381163638258E082-4997
chr836382823638342E082-4913







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr836360863636191E068-7064
chr836360863636191E069-7064
chr836360863636191E071-7064