rs3849840

Homo sapiens
C>A / C>T
CSMD1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0136 (4077/29804,GnomAD)
C==0112 (3280/29118,TOPMED)
C==0104 (520/5008,1000G)
C==0142 (548/3854,ALSPAC)
C==0151 (561/3708,TWINSUK)
chr8:4212973 (GRCh38.p7) (8p23.2)
AD
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.4212973C>A
GRCh38.p7 chr 8NC_000008.11:g.4212973C>T
GRCh37.p13 chr 8NC_000008.10:g.4070495C>A
GRCh37.p13 chr 8NC_000008.10:g.4070495C>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=0.089T=0.911
1000GenomesAmericanSub694C=0.090T=0.91,
1000GenomesEast AsianSub1008C=0.121T=0.866
1000GenomesEuropeSub1006C=0.150T=0.850
1000GenomesGlobalStudy-wide5008C=0.104T=0.894
1000GenomesSouth AsianSub978C=0.070T=0.93,
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.142T=0.858
The Genome Aggregation DatabaseAfricanSub8690C=0.089T=0.911
The Genome Aggregation DatabaseAmericanSub836C=0.070T=0.93,
The Genome Aggregation DatabaseEast AsianSub1612C=0.139T=0.852
The Genome Aggregation DatabaseEuropeSub18366C=0.161T=0.838
The Genome Aggregation DatabaseGlobalStudy-wide29804C=0.136T=0.862
The Genome Aggregation DatabaseOtherSub300C=0.170T=0.83,
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.112T=0.887
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.151T=0.849
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs38498400.000227alcohol dependence24277619

eQTL of rs3849840 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 rs3849840 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 )
chr88041218180412534E070-29379