SNP Detail Info-rs33153

Organism: Homo sapiens

Alleles: A>C

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0344 (10307/29894,GnomAD)
A==0343 (10011/29118,TOPMED)
A==0392 (1965/5008,1000G)
A==0285 (1097/3854,ALSPAC)
A==0294 (1090/3708,TWINSUK)

Position: chr12:30830904 (GRCh38.p7) (12p11.21)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 9 Enhancers around

Promoter: 23 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.30830904A>C
GRCh37.p13 chr 12	NC_000012.11:g.30983838A>C

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.378	C=0.622
1000Genomes	American	Sub	694	A=0.490	C=0.510
1000Genomes	East Asian	Sub	1008	A=0.415	C=0.585
1000Genomes	Europe	Sub	1006	A=0.277	C=0.723
1000Genomes	Global	Study-wide	5008	A=0.392	C=0.608
1000Genomes	South Asian	Sub	978	A=0.440	C=0.560
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.285	C=0.715
The Genome Aggregation Database	African	Sub	8682	A=0.392	C=0.608
The Genome Aggregation Database	American	Sub	834	A=0.530	C=0.470
The Genome Aggregation Database	East Asian	Sub	1614	A=0.401	C=0.599
The Genome Aggregation Database	Europe	Sub	18462	A=0.310	C=0.689
The Genome Aggregation Database	Global	Study-wide	29894	A=0.344	C=0.655
The Genome Aggregation Database	Other	Sub	302	A=0.260	C=0.740
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.343	C=0.656
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.294	C=0.706

PMID	Title	Author	Journal
21529783	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Heath AC	Biol Psychiatry

SNP ID	p-value	Traits	Study
rs33153	6.5E-05	alcoholism (heaviness of drinking)	21529783

eQTL of rs33153 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr12:30983838	TSPAN11	ENSG00000110900.10	A>C	2.8200e-22	-95524	Cerebellum
Chr12:30983838	TSPAN11	ENSG00000110900.10	A>C	9.1017e-14	-95524	Cortex
Chr12:30983838	TSPAN11	ENSG00000110900.10	A>C	3.3080e-14	-95524	Cerebellar_Hemisphere

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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr12	30960061	30960191	E068	-23647
chr12	31027809	31027959	E068	43971
chr12	31028002	31028405	E068	44164
chr12	30974710	30974978	E069	-8860
chr12	31027809	31027959	E070	43971
chr12	30974710	30974978	E071	-8860
chr12	30960061	30960191	E073	-23647
chr12	30974710	30974978	E074	-8860
chr12	30974710	30974978	E082	-8860

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr12	30947498	30949719	E067	-34119
chr12	30949771	30950292	E067	-33546
chr12	30975073	30976659	E067	-7179
chr12	30947498	30949719	E068	-34119
chr12	30949771	30950292	E068	-33546
chr12	30975073	30976659	E068	-7179
chr12	30947498	30949719	E069	-34119
chr12	30949771	30950292	E069	-33546
chr12	30975073	30976659	E069	-7179
chr12	30975073	30976659	E070	-7179
chr12	30947498	30949719	E071	-34119
chr12	30975073	30976659	E071	-7179
chr12	30947498	30949719	E072	-34119
chr12	30975073	30976659	E072	-7179
chr12	30947498	30949719	E073	-34119
chr12	30949771	30950292	E073	-33546
chr12	30975073	30976659	E073	-7179
chr12	30947498	30949719	E074	-34119
chr12	30949771	30950292	E074	-33546
chr12	30975073	30976659	E074	-7179
chr12	31003593	31005136	E074	19755
chr12	30947498	30949719	E082	-34119
chr12	30975073	30976659	E082	-7179

rs33153