SNP Detail Info-rs10083616

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

GABRG3 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0355 (10643/29944,GnomAD)
A=0453 (13195/29118,TOPMED)
A=0402 (2011/5008,1000G)
A=0249 (961/3854,ALSPAC)
A=0232 (860/3708,TWINSUK)

Position: chr15:27364025 (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=0.289	A=0.711
1000Genomes	American	Sub	694	G=0.590	A=0.410
1000Genomes	East Asian	Sub	1008	G=0.842	A=0.158
1000Genomes	Europe	Sub	1006	G=0.728	A=0.272
1000Genomes	Global	Study-wide	5008	G=0.598	A=0.402
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=0.751	A=0.249
The Genome Aggregation Database	African	Sub	8708	G=0.341	A=0.659
The Genome Aggregation Database	American	Sub	838	G=0.620	A=0.380
The Genome Aggregation Database	East Asian	Sub	1618	G=0.863	A=0.137
The Genome Aggregation Database	Europe	Sub	18480	G=0.768	A=0.231
The Genome Aggregation Database	Global	Study-wide	29944	G=0.644	A=0.355
The Genome Aggregation Database	Other	Sub	300	G=0.720	A=0.280
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.546	A=0.453
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
rs10083616	8.2E-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	-35010
chr15	27572852	27574161	E069	-35010
chr15	27572852	27574161	E070	-35010
chr15	27607376	27607557	E070	-1614
chr15	27643719	27643826	E070	34548
chr15	27643964	27644090	E070	34793
chr15	27644100	27644200	E070	34929
chr15	27644478	27644763	E070	35307
chr15	27647490	27647737	E070	38319
chr15	27572526	27572615	E071	-36556
chr15	27572723	27572773	E071	-36398
chr15	27587642	27587850	E071	-21321
chr15	27587967	27588200	E071	-20971
chr15	27588224	27588431	E071	-20740
chr15	27603725	27603775	E073	-5396
chr15	27587172	27587467	E074	-21704
chr15	27587642	27587850	E074	-21321
chr15	27572852	27574161	E081	-35010
chr15	27604830	27605000	E081	-4171
chr15	27605180	27605242	E081	-3929
chr15	27643719	27643826	E081	34548
chr15	27643964	27644090	E081	34793
chr15	27572852	27574161	E082	-35010
chr15	27607376	27607557	E082	-1614
chr15	27633569	27633893	E082	24398
chr15	27634002	27634052	E082	24831
chr15	27641538	27642167	E082	32367
chr15	27642433	27642506	E082	33262
chr15	27642576	27642653	E082	33405
chr15	27643964	27644090	E082	34793
chr15	27644100	27644200	E082	34929
chr15	27644478	27644763	E082	35307
chr15	27645784	27647421	E082	36613
chr15	27658624	27658664	E082	49453
chr15	27658726	27658933	E082	49555

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr15	27603895	27604225	E067	-4946
chr15	27603895	27604225	E068	-4946
chr15	27603895	27604225	E071	-4946
chr15	27603895	27604225	E073	-4946

rs10083616