SNP Detail Info-rs258430

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0440 (12827/29118,TOPMED)
A==0436 (12616/28906,GnomAD)
A==0490 (2456/5008,1000G)
A==0438 (1689/3854,ALSPAC)
A==0438 (1624/3708,TWINSUK)

Position: chr12:27880569 (GRCh38.p7) (12p11.22)

Phenotype: AD

Dataset:

GWASCatalog

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 30 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.27880569A>G
GRCh37.p13 chr 12	NC_000012.11:g.28033502A>G

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.461	G=0.539
1000Genomes	American	Sub	694	A=0.410	G=0.590
1000Genomes	East Asian	Sub	1008	A=0.584	G=0.416
1000Genomes	Europe	Sub	1006	A=0.422	G=0.578
1000Genomes	Global	Study-wide	5008	A=0.490	G=0.510
1000Genomes	South Asian	Sub	978	A=0.560	G=0.440
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.438	G=0.562
The Genome Aggregation Database	African	Sub	8592	A=0.478	G=0.522
The Genome Aggregation Database	American	Sub	746	A=0.360	G=0.640
The Genome Aggregation Database	East Asian	Sub	1608	A=0.606	G=0.394
The Genome Aggregation Database	Europe	Sub	17664	A=0.403	G=0.596
The Genome Aggregation Database	Global	Study-wide	28906	A=0.436	G=0.563
The Genome Aggregation Database	Other	Sub	296	A=0.460	G=0.540
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.440	G=0.559
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.438	G=0.562

PMID	Title	Author	Journal
28040410	A genome wide association study of fast beta EEG in families of European ancestry.	Meyers JL	Int J Psychophysiol

SNP ID	p-value	Traits	Study
rs258430	6E-07	alcohol dependence	28040410

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 )
chr12	27991458	27992042	E067	-41460
chr12	27992158	27992227	E067	-41275
chr12	27991458	27992042	E069	-41460
chr12	27992158	27992227	E069	-41275
chr12	27992487	27992527	E069	-40975
chr12	28066985	28067039	E070	33483
chr12	28067074	28067199	E070	33572
chr12	27991260	27991388	E071	-42114
chr12	27991458	27992042	E071	-41460
chr12	27992158	27992227	E071	-41275
chr12	27991260	27991388	E073	-42114
chr12	27991458	27992042	E073	-41460
chr12	27991260	27991388	E074	-42114
chr12	27991458	27992042	E074	-41460
chr12	28021995	28022138	E081	-11364
chr12	28022391	28022560	E081	-10942
chr12	28022631	28022883	E081	-10619
chr12	28022892	28023012	E081	-10490
chr12	28023235	28023300	E081	-10202
chr12	28023761	28023857	E081	-9645
chr12	28023969	28024208	E081	-9294
chr12	28051758	28052738	E081	18256
chr12	28062490	28062540	E081	28988
chr12	28066197	28066351	E081	32695
chr12	28022391	28022560	E082	-10942
chr12	28022631	28022883	E082	-10619
chr12	28022892	28023012	E082	-10490
chr12	28023235	28023300	E082	-10202
chr12	28051758	28052738	E082	18256
chr12	28052796	28052989	E082	19294

rs258430