rs514341

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0279 (8149/29118,TOPMED)
T=0223 (6474/29016,GnomAD)
T=0265 (1326/5008,1000G)
T=0079 (303/3854,ALSPAC)
T=0079 (293/3708,TWINSUK)

Position: chr1:110110258 (GRCh38.p7) (1p13.3)

Phenotype: AD

Dataset:

GWASdb2 | GWASCatalog

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 38 Enhancers around

Promoter: 41 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.110110258C>T
GRCh37.p13 chr 1	NC_000001.10:g.110652880C>T

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.389	T=0.611
1000Genomes	American	Sub	694	C=0.850	T=0.150
1000Genomes	East Asian	Sub	1008	C=0.698	T=0.302
1000Genomes	Europe	Sub	1006	C=0.942	T=0.058
1000Genomes	Global	Study-wide	5008	C=0.735	T=0.265
1000Genomes	South Asian	Sub	978	C=0.940	T=0.060
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.921	T=0.079
The Genome Aggregation Database	African	Sub	8388	C=0.458	T=0.542
The Genome Aggregation Database	American	Sub	820	C=0.850	T=0.150
The Genome Aggregation Database	East Asian	Sub	1592	C=0.748	T=0.252
The Genome Aggregation Database	Europe	Sub	17914	C=0.923	T=0.076
The Genome Aggregation Database	Global	Study-wide	29016	C=0.776	T=0.223
The Genome Aggregation Database	Other	Sub	302	C=0.930	T=0.070
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.720	T=0.279
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.921	T=0.079

PMID	Title	Author	Journal
24962325	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Kapoor M	Drug Alcohol Depend

SNP ID	p-value	Traits	Study
rs514341	6E-06	alcohol dependence (age at onset)	24962325

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 )
chr1	110679456	110679960	E067	26576
chr1	110680040	110680105	E067	27160
chr1	110680040	110680105	E068	27160
chr1	110609551	110609661	E069	-43219
chr1	110609744	110609784	E069	-43096
chr1	110657359	110657828	E069	4479
chr1	110677925	110678162	E069	25045
chr1	110701958	110702075	E069	49078
chr1	110702714	110702800	E069	49834
chr1	110650606	110650667	E070	-2213
chr1	110650756	110650965	E070	-1915
chr1	110651122	110651166	E070	-1714
chr1	110651245	110651337	E070	-1543
chr1	110651668	110651721	E070	-1159
chr1	110680040	110680105	E070	27160
chr1	110657359	110657828	E071	4479
chr1	110679456	110679960	E071	26576
chr1	110680040	110680105	E071	27160
chr1	110648589	110649072	E072	-3808
chr1	110657359	110657828	E072	4479
chr1	110679456	110679960	E072	26576
chr1	110680040	110680105	E072	27160
chr1	110676830	110677063	E073	23950
chr1	110677925	110678162	E073	25045
chr1	110679456	110679960	E073	26576
chr1	110680040	110680105	E073	27160
chr1	110702714	110702800	E073	49834
chr1	110679456	110679960	E074	26576
chr1	110680040	110680105	E074	27160
chr1	110678376	110678620	E081	25496
chr1	110679456	110679960	E081	26576
chr1	110680040	110680105	E081	27160
chr1	110680719	110680927	E081	27839
chr1	110701958	110702075	E081	49078
chr1	110702714	110702800	E081	49834
chr1	110673677	110673802	E082	20797
chr1	110678376	110678620	E082	25496
chr1	110680719	110680927	E082	27839

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	110626010	110626270	E067	-26610
chr1	110626291	110626363	E067	-26517
chr1	110626393	110626536	E067	-26344
chr1	110626554	110626615	E067	-26265
chr1	110626630	110626751	E067	-26129
chr1	110626862	110627767	E067	-25113
chr1	110692989	110694092	E067	40109
chr1	110626010	110626270	E068	-26610
chr1	110626291	110626363	E068	-26517
chr1	110626393	110626536	E068	-26344
chr1	110626554	110626615	E068	-26265
chr1	110626630	110626751	E068	-26129
chr1	110626862	110627767	E068	-25113
chr1	110692989	110694092	E068	40109
chr1	110626010	110626270	E069	-26610
chr1	110626291	110626363	E069	-26517
chr1	110626393	110626536	E069	-26344
chr1	110626554	110626615	E069	-26265
chr1	110626630	110626751	E069	-26129
chr1	110626862	110627767	E069	-25113
chr1	110692989	110694092	E069	40109
chr1	110626010	110626270	E071	-26610
chr1	110626291	110626363	E071	-26517
chr1	110626862	110627767	E071	-25113
chr1	110692989	110694092	E071	40109
chr1	110626010	110626270	E072	-26610
chr1	110626291	110626363	E072	-26517
chr1	110626393	110626536	E072	-26344
chr1	110626554	110626615	E072	-26265
chr1	110626630	110626751	E072	-26129
chr1	110626862	110627767	E072	-25113
chr1	110692989	110694092	E072	40109
chr1	110626010	110626270	E073	-26610
chr1	110626291	110626363	E073	-26517
chr1	110626393	110626536	E073	-26344
chr1	110626554	110626615	E073	-26265
chr1	110626630	110626751	E073	-26129
chr1	110626862	110627767	E073	-25113
chr1	110692989	110694092	E073	40109
chr1	110626862	110627767	E074	-25113
chr1	110692989	110694092	E082	40109