SNP Detail Info-rs596215

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

CSMD1 : Intron Variant
LOC105377792 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0204 (6137/29966,GnomAD)
G=0280 (8168/29118,TOPMED)
G=0215 (1075/5008,1000G)
G=0090 (348/3854,ALSPAC)
G=0077 (286/3708,TWINSUK)

Position: chr8:3002993 (GRCh38.p7) (8p23.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 28 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 8	NC_000008.11:g.3002993A>G
GRCh37.p13 chr 8	NC_000008.10:g.2860515A>G

Molecule type	Change	Amino acid[Codon]	SO Term
CSMD1 transcript	NM_033225.5:c.	N/A	Intron Variant
CSMD1 transcript variant X1	XM_011534752.2:c.	N/A	Intron Variant
CSMD1 transcript variant X3	XM_011534753.2:c.	N/A	Intron Variant
CSMD1 transcript variant X4	XM_011534754.1:c.	N/A	Intron Variant
CSMD1 transcript variant X2	XM_017013731.1:c.	N/A	Intron Variant

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105377792 transcript variant X1	XM_017014118.1:c.	N/A	Intron Variant
LOC105377792 transcript variant X2	XM_017014119.1:c.	N/A	Genic Upstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.446	G=0.554
1000Genomes	American	Sub	694	A=0.870	G=0.130
1000Genomes	East Asian	Sub	1008	A=0.871	G=0.129
1000Genomes	Europe	Sub	1006	A=0.925	G=0.075
1000Genomes	Global	Study-wide	5008	A=0.785	G=0.215
1000Genomes	South Asian	Sub	978	A=0.950	G=0.050
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.910	G=0.090
The Genome Aggregation Database	African	Sub	8706	A=0.489	G=0.511
The Genome Aggregation Database	American	Sub	838	A=0.870	G=0.130
The Genome Aggregation Database	East Asian	Sub	1622	A=0.901	G=0.099
The Genome Aggregation Database	Europe	Sub	18498	A=0.925	G=0.074
The Genome Aggregation Database	Global	Study-wide	29966	A=0.795	G=0.204
The Genome Aggregation Database	Other	Sub	302	A=0.870	G=0.130
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.719	G=0.280
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.923	G=0.077

PMID	Title	Author	Journal
23743675	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Kapoor M	Hum Genet

SNP ID	p-value	Traits	Study
rs596215	5.94E-05	alcohol consumption	23743675

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr8	2836836	2837269	E068	-23246
chr8	2837599	2837709	E068	-22806
chr8	2837717	2837814	E068	-22701
chr8	2836836	2837269	E069	-23246
chr8	2824209	2824253	E070	-36262
chr8	2824473	2824610	E070	-35905
chr8	2824819	2824892	E070	-35623
chr8	2825301	2825364	E070	-35151
chr8	2825397	2825517	E070	-34998
chr8	2836836	2837269	E070	-23246
chr8	2837599	2837709	E070	-22806
chr8	2837717	2837814	E070	-22701
chr8	2873076	2873459	E070	12561
chr8	2836836	2837269	E071	-23246
chr8	2837599	2837709	E071	-22806
chr8	2836836	2837269	E072	-23246
chr8	2837599	2837709	E072	-22806
chr8	2837717	2837814	E072	-22701
chr8	2836836	2837269	E074	-23246
chr8	2837599	2837709	E074	-22806
chr8	2837717	2837814	E074	-22701
chr8	2837599	2837709	E081	-22806
chr8	2837717	2837814	E081	-22701
chr8	2851785	2851829	E081	-8686
chr8	2851844	2851942	E081	-8573
chr8	2852199	2852294	E081	-8221
chr8	2852453	2853513	E081	-7002
chr8	2873076	2873459	E081	12561

rs596215