rs596681

Homo sapiens
C>A / C>T
CSMD1 : Intron Variant
LOC105377792 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0184 (5527/29952,GnomAD)
A=0252 (7361/29118,TOPMED)
A=0197 (988/5008,1000G)
A=0082 (317/3854,ALSPAC)
A=0070 (258/3708,TWINSUK)
chr8:3003080 (GRCh38.p7) (8p23.2)
AD
GWASdb2
1   publication(s)
See rs on genome
20 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.3003080C>A
GRCh38.p7 chr 8NC_000008.11:g.3003080C>T
GRCh37.p13 chr 8NC_000008.10:g.2860602C>A
GRCh37.p13 chr 8NC_000008.10:g.2860602C>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 X3XM_011534753.2:c.N/AIntron Variant
CSMD1 transcript variant X4XM_011534754.1:c.N/AIntron Variant
CSMD1 transcript variant X2XM_017013731.1:c.N/AIntron Variant

Gene: LOC105377792, uncharacterized LOC105377792(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105377792 transcript variant X1XM_017014118.1:c.N/AIntron Variant
LOC105377792 transcript variant X2XM_017014119.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.502A=0.498
1000GenomesAmericanSub694C=0.880A=0.120
1000GenomesEast AsianSub1008C=0.872A=0.128
1000GenomesEuropeSub1006C=0.931A=0.069
1000GenomesGlobalStudy-wide5008C=0.803A=0.197
1000GenomesSouth AsianSub978C=0.950A=0.050
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.918A=0.082
The Genome Aggregation DatabaseAfricanSub8714C=0.546A=0.454
The Genome Aggregation DatabaseAmericanSub836C=0.900A=0.10,
The Genome Aggregation DatabaseEast AsianSub1616C=0.902A=0.098
The Genome Aggregation DatabaseEuropeSub18486C=0.930A=0.069
The Genome Aggregation DatabaseGlobalStudy-wide29952C=0.815A=0.184
The Genome Aggregation DatabaseOtherSub300C=0.880A=0.12,
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.747A=0.252
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.930A=0.070
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs5966819.87E-05alcohol consumption23743675

eQTL of rs596681 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 rs596681 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 )
chr88757022787570338E067-38350
chr88757048287570713E067-37975
chr88757022787570338E068-38350
chr88757048287570713E068-37975
chr88757076987570823E068-37865
chr88757016987570213E069-38475
chr88757022787570338E069-38350
chr88757048287570713E069-37975
chr88757076987570823E069-37865
chr88757076987570823E070-37865
chr88758679187586845E070-21843
chr88763869687638899E07030008
chr88757016987570213E071-38475
chr88757022787570338E071-38350
chr88757048287570713E071-37975
chr88757076987570823E071-37865
chr88757016987570213E072-38475
chr88757022787570338E072-38350
chr88757048287570713E072-37975
chr88757076987570823E072-37865