rs6996697

Homo sapiens
A>G
CSMD3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0096 (2895/29924,GnomAD)
G=0092 (2678/29118,TOPMED)
G=0093 (468/5008,1000G)
G=0128 (493/3854,ALSPAC)
G=0119 (440/3708,TWINSUK)
chr8:113262046 (GRCh38.p7) (8q23.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.113262046A>G
GRCh37.p13 chr 8NC_000008.10:g.114274275A>G

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 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 X7XM_011516815.2:c.N/AGenic Upstream Transcript Variant
CSMD3 transcript variant X6XM_017013012.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.959G=0.041
1000GenomesAmericanSub694A=0.910G=0.090
1000GenomesEast AsianSub1008A=0.930G=0.070
1000GenomesEuropeSub1006A=0.835G=0.165
1000GenomesGlobalStudy-wide5008A=0.907G=0.093
1000GenomesSouth AsianSub978A=0.880G=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.872G=0.128
The Genome Aggregation DatabaseAfricanSub8722A=0.948G=0.052
The Genome Aggregation DatabaseAmericanSub836A=0.920G=0.080
The Genome Aggregation DatabaseEast AsianSub1618A=0.919G=0.081
The Genome Aggregation DatabaseEuropeSub18446A=0.881G=0.118
The Genome Aggregation DatabaseGlobalStudy-wide29924A=0.903G=0.096
The Genome Aggregation DatabaseOtherSub302A=0.800G=0.200
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.908G=0.092
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.881G=0.119
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
rs69966970.0004alcohol dependence20201924

eQTL of rs6996697 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 rs6996697 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.