rs1320454

Organism: Homo sapiens

Alleles: C>A / C>T

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0076 (2277/29974,GnomAD)
A=0061 (304/5008,1000G)
A=0081 (312/3854,ALSPAC)
A=0088 (326/3708,TWINSUK)

Position: chr1:38825472 (GRCh38.p7) (1p34.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 102 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.38825472C>A
GRCh38.p7 chr 1	NC_000001.11:g.38825472C>T
GRCh37.p13 chr 1	NC_000001.10:g.39291144C>A
GRCh37.p13 chr 1	NC_000001.10:g.39291144C>T

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.918	A=0.082
1000Genomes	American	Sub	694	C=0.940	A=0.060
1000Genomes	East Asian	Sub	1008	C=1.000	A=0.000
1000Genomes	Europe	Sub	1006	C=0.904	A=0.096
1000Genomes	Global	Study-wide	5008	C=0.939	A=0.061
1000Genomes	South Asian	Sub	978	C=0.940	A=0.060
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.919	A=0.081
The Genome Aggregation Database	African	Sub	8728	C=0.917	A=0.083
The Genome Aggregation Database	American	Sub	838	C=0.960	A=0.040
The Genome Aggregation Database	East Asian	Sub	1622	C=0.999	A=0.001
The Genome Aggregation Database	Europe	Sub	18484	C=0.919	A=0.080
The Genome Aggregation Database	Global	Study-wide	29974	C=0.924	A=0.076
The Genome Aggregation Database	Other	Sub	302	C=0.930	A=0.070
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.912	A=0.088

PMID	Title	Author	Journal
24277619	ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.	Quillen EE	Am J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID	p-value	Traits	Study
rs1320454	0.000511	alcohol consumption (maxi-drinks)	24277619

eQTL of rs1320454 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

meQTL of rs1320454 in Fetal Brain

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

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

Enhancer Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr1	7634082	7634231	E067	424
chr1	7634253	7634311	E067	595
chr1	7634363	7634448	E067	705
chr1	7634499	7634778	E067	841
chr1	7641673	7641778	E067	8015
chr1	7641868	7642320	E067	8210
chr1	7642395	7642456	E067	8737
chr1	7642461	7642511	E067	8803
chr1	7654881	7654931	E067	21223
chr1	7654994	7655044	E067	21336
chr1	7655156	7655206	E067	21498
chr1	7673260	7673337	E067	39602
chr1	7673473	7673798	E067	39815
chr1	7676333	7676442	E067	42675
chr1	7676684	7676795	E067	43026
chr1	7676819	7676863	E067	43161
chr1	7677027	7677429	E067	43369
chr1	7680415	7680484	E067	46757
chr1	7680777	7680863	E067	47119
chr1	7641282	7641528	E068	7624
chr1	7641673	7641778	E068	8015
chr1	7641868	7642320	E068	8210
chr1	7642395	7642456	E068	8737
chr1	7673260	7673337	E068	39602
chr1	7673473	7673798	E068	39815
chr1	7680777	7680863	E068	47119
chr1	7641673	7641778	E069	8015
chr1	7641868	7642320	E069	8210
chr1	7642395	7642456	E069	8737
chr1	7642461	7642511	E069	8803
chr1	7673260	7673337	E069	39602
chr1	7673473	7673798	E069	39815
chr1	7680777	7680863	E069	47119
chr1	7617611	7617755	E070	-15903
chr1	7617843	7618501	E070	-15157
chr1	7619133	7619294	E070	-14364
chr1	7650313	7650399	E070	16655
chr1	7651297	7651354	E070	17639
chr1	7651804	7651928	E070	18146
chr1	7668695	7668881	E070	35037
chr1	7668941	7669536	E070	35283
chr1	7669735	7669925	E070	36077
chr1	7640780	7640830	E071	7122
chr1	7641673	7641778	E071	8015
chr1	7641868	7642320	E071	8210
chr1	7642395	7642456	E071	8737
chr1	7642461	7642511	E071	8803
chr1	7676819	7676863	E071	43161
chr1	7680415	7680484	E071	46757
chr1	7680777	7680863	E071	47119
chr1	7597079	7597676	E072	-35982
chr1	7619133	7619294	E072	-14364
chr1	7641673	7641778	E072	8015
chr1	7641868	7642320	E072	8210
chr1	7642395	7642456	E072	8737
chr1	7642461	7642511	E072	8803
chr1	7654881	7654931	E072	21223
chr1	7654994	7655044	E072	21336
chr1	7655156	7655206	E072	21498
chr1	7673260	7673337	E072	39602
chr1	7673473	7673798	E072	39815
chr1	7676684	7676795	E072	43026
chr1	7676819	7676863	E072	43161
chr1	7680415	7680484	E072	46757
chr1	7680777	7680863	E072	47119
chr1	7641673	7641778	E073	8015
chr1	7641868	7642320	E073	8210
chr1	7642395	7642456	E073	8737
chr1	7642461	7642511	E073	8803
chr1	7673260	7673337	E073	39602
chr1	7673473	7673798	E073	39815
chr1	7674270	7674320	E073	40612
chr1	7676684	7676795	E073	43026
chr1	7676819	7676863	E073	43161
chr1	7619133	7619294	E074	-14364
chr1	7676333	7676442	E074	42675
chr1	7676684	7676795	E074	43026
chr1	7676819	7676863	E074	43161
chr1	7680415	7680484	E074	46757
chr1	7680777	7680863	E074	47119
chr1	7682827	7682877	E074	49169
chr1	7614417	7615410	E081	-18248
chr1	7615551	7615625	E081	-18033
chr1	7615874	7616215	E081	-17443
chr1	7617843	7618501	E081	-15157
chr1	7619133	7619294	E081	-14364
chr1	7668941	7669536	E081	35283
chr1	7669735	7669925	E081	36077
chr1	7670055	7670117	E081	36397
chr1	7670178	7670268	E081	36520
chr1	7614417	7615410	E082	-18248
chr1	7615551	7615625	E082	-18033
chr1	7617319	7617603	E082	-16055
chr1	7617611	7617755	E082	-15903
chr1	7619133	7619294	E082	-14364
chr1	7634082	7634231	E082	424
chr1	7634253	7634311	E082	595
chr1	7634363	7634448	E082	705
chr1	7634499	7634778	E082	841
chr1	7641868	7642320	E082	8210
chr1	7642395	7642456	E082	8737
chr1	7655585	7655652	E082	21927