SNP Detail Info-rs28668284

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

GABRG3 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0318 (9538/29928,GnomAD)
A=0396 (11538/29118,TOPMED)
A=0365 (1826/5008,1000G)
A=0250 (962/3854,ALSPAC)
A=0232 (859/3708,TWINSUK)

Position: chr15:27364047 (GRCh38.p7) (15q12)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 35 Enhancers around

Promoter: 4 Promoters around

Molecule type	Change	Amino acid[Codon]	SO Term
GABRG3 transcript variant 2	NM_001270873.1:c.	N/A	Intron Variant
GABRG3 transcript variant 1	NM_033223.4:c.	N/A	Intron Variant
GABRG3 transcript variant X1	XM_011521430.2:c.	N/A	Intron Variant
GABRG3 transcript variant X2	XM_017022058.1:c.	N/A	Intron Variant
GABRG3 transcript variant X3	XM_017022059.1:c.	N/A	Intron Variant
GABRG3 transcript variant X5	XM_011521431.2:c.	N/A	Genic Upstream Transcript Variant
GABRG3 transcript variant X4	XM_017022060.1:c.	N/A	Genic Upstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.421	A=0.579
1000Genomes	American	Sub	694	G=0.600	A=0.400
1000Genomes	East Asian	Sub	1008	G=0.844	A=0.156
1000Genomes	Europe	Sub	1006	G=0.729	A=0.271
1000Genomes	Global	Study-wide	5008	G=0.635	A=0.365
1000Genomes	South Asian	Sub	978	G=0.640	A=0.360
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.750	A=0.250
The Genome Aggregation Database	African	Sub	8688	G=0.465	A=0.535
The Genome Aggregation Database	American	Sub	836	G=0.630	A=0.370
The Genome Aggregation Database	East Asian	Sub	1616	G=0.865	A=0.135
The Genome Aggregation Database	Europe	Sub	18486	G=0.768	A=0.231
The Genome Aggregation Database	Global	Study-wide	29928	G=0.681	A=0.318
The Genome Aggregation Database	Other	Sub	302	G=0.710	A=0.290
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.603	A=0.396
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.768	A=0.232

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
rs28668284	7.89E-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 )
chr15	27572852	27574161	E068	-35032
chr15	27572852	27574161	E069	-35032
chr15	27572852	27574161	E070	-35032
chr15	27607376	27607557	E070	-1636
chr15	27643719	27643826	E070	34526
chr15	27643964	27644090	E070	34771
chr15	27644100	27644200	E070	34907
chr15	27644478	27644763	E070	35285
chr15	27647490	27647737	E070	38297
chr15	27572526	27572615	E071	-36578
chr15	27572723	27572773	E071	-36420
chr15	27587642	27587850	E071	-21343
chr15	27587967	27588200	E071	-20993
chr15	27588224	27588431	E071	-20762
chr15	27603725	27603775	E073	-5418
chr15	27587172	27587467	E074	-21726
chr15	27587642	27587850	E074	-21343
chr15	27572852	27574161	E081	-35032
chr15	27604830	27605000	E081	-4193
chr15	27605180	27605242	E081	-3951
chr15	27643719	27643826	E081	34526
chr15	27643964	27644090	E081	34771
chr15	27572852	27574161	E082	-35032
chr15	27607376	27607557	E082	-1636
chr15	27633569	27633893	E082	24376
chr15	27634002	27634052	E082	24809
chr15	27641538	27642167	E082	32345
chr15	27642433	27642506	E082	33240
chr15	27642576	27642653	E082	33383
chr15	27643964	27644090	E082	34771
chr15	27644100	27644200	E082	34907
chr15	27644478	27644763	E082	35285
chr15	27645784	27647421	E082	36591
chr15	27658624	27658664	E082	49431
chr15	27658726	27658933	E082	49533

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr15	27603895	27604225	E067	-4968
chr15	27603895	27604225	E068	-4968
chr15	27603895	27604225	E071	-4968
chr15	27603895	27604225	E073	-4968

rs28668284