rs767201

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

RERG : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0348 (10420/29918,GnomAD)
A=0352 (10249/29118,TOPMED)
A=0325 (1630/5008,1000G)
A=0316 (1217/3854,ALSPAC)
A=0330 (1222/3708,TWINSUK)

Position: chr12:15217944 (GRCh38.p7) (12p12.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 42 Enhancers around

Promoter: 18 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.15217944G>A
GRCh37.p13 chr 12	NC_000012.11:g.15370878G>A

Molecule type	Change	Amino acid[Codon]	SO Term
RERG transcript variant 2	NM_001190726.1:c.	N/A	Intron Variant
RERG transcript variant 1	NM_032918.2:c.	N/A	Intron Variant
RERG transcript variant X1	XM_017020121.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.538	A=0.462
1000Genomes	American	Sub	694	G=0.790	A=0.210
1000Genomes	East Asian	Sub	1008	G=0.756	A=0.244
1000Genomes	Europe	Sub	1006	G=0.654	A=0.346
1000Genomes	Global	Study-wide	5008	G=0.675	A=0.325
1000Genomes	South Asian	Sub	978	G=0.710	A=0.290
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.684	A=0.316
The Genome Aggregation Database	African	Sub	8702	G=0.563	A=0.437
The Genome Aggregation Database	American	Sub	834	G=0.790	A=0.210
The Genome Aggregation Database	East Asian	Sub	1616	G=0.790	A=0.210
The Genome Aggregation Database	Europe	Sub	18466	G=0.675	A=0.324
The Genome Aggregation Database	Global	Study-wide	29918	G=0.651	A=0.348
The Genome Aggregation Database	Other	Sub	300	G=0.670	A=0.330
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.648	A=0.352
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.670	A=0.330

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

SNP ID	p-value	Traits	Study
rs767201	0.000339	alcohol dependence	20201924

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

There is no significant Hi-C chromatin interaction data for this SNP.

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr12	15375096	15375150	E067	4218
chr12	15375265	15375417	E067	4387
chr12	15332358	15332815	E068	-38063
chr12	15332816	15332929	E068	-37949
chr12	15332949	15333203	E068	-37675
chr12	15333322	15333493	E068	-37385
chr12	15333537	15333639	E068	-37239
chr12	15333670	15333829	E068	-37049
chr12	15334060	15334535	E068	-36343
chr12	15334571	15334669	E068	-36209
chr12	15334701	15334936	E068	-35942
chr12	15339587	15339889	E068	-30989
chr12	15339949	15340050	E068	-30828
chr12	15346891	15347350	E068	-23528
chr12	15347372	15347448	E068	-23430
chr12	15347495	15347641	E068	-23237
chr12	15348070	15348846	E068	-22032
chr12	15360568	15360622	E068	-10256
chr12	15360692	15360742	E068	-10136
chr12	15368763	15368813	E068	-2065
chr12	15368931	15369131	E068	-1747
chr12	15375096	15375150	E068	4218
chr12	15375265	15375417	E068	4387
chr12	15393154	15393198	E070	22276
chr12	15332816	15332929	E071	-37949
chr12	15332949	15333203	E071	-37675
chr12	15333322	15333493	E071	-37385
chr12	15375096	15375150	E072	4218
chr12	15375265	15375417	E072	4387
chr12	15346282	15346469	E081	-24409
chr12	15348070	15348846	E081	-22032
chr12	15364282	15364381	E081	-6497
chr12	15365534	15365599	E081	-5279
chr12	15365605	15365883	E081	-4995
chr12	15366646	15367166	E081	-3712
chr12	15375096	15375150	E081	4218
chr12	15346615	15346858	E082	-24020
chr12	15346891	15347350	E082	-23528
chr12	15347372	15347448	E082	-23430
chr12	15347495	15347641	E082	-23237
chr12	15365534	15365599	E082	-5279
chr12	15365605	15365883	E082	-4995

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr12	15373458	15374927	E067	2580
chr12	15372217	15372267	E068	1339
chr12	15372274	15372324	E068	1396
chr12	15372367	15372417	E068	1489
chr12	15372439	15372489	E068	1561
chr12	15372694	15372746	E068	1816
chr12	15372781	15372838	E068	1903
chr12	15372871	15373126	E068	1993
chr12	15373138	15373387	E068	2260
chr12	15373458	15374927	E068	2580
chr12	15373458	15374927	E069	2580
chr12	15373458	15374927	E070	2580
chr12	15373458	15374927	E071	2580
chr12	15373458	15374927	E072	2580
chr12	15372871	15373126	E073	1993
chr12	15373138	15373387	E073	2260
chr12	15373458	15374927	E073	2580
chr12	15373458	15374927	E074	2580