SNP Detail Info-rs7411728

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0066 (1993/29980,GnomAD)
A=0042 (1242/29118,TOPMED)
A=0083 (416/5008,1000G)
A=0065 (251/3854,ALSPAC)
A=0063 (234/3708,TWINSUK)

Position: chr1:59981117 (GRCh38.p7) (1p32.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 50 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.59981117G>A
GRCh37.p13 chr 1	NC_000001.10:g.60446789G>A

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.989	A=0.011
1000Genomes	American	Sub	694	G=0.920	A=0.080
1000Genomes	East Asian	Sub	1008	G=0.833	A=0.167
1000Genomes	Europe	Sub	1006	G=0.923	A=0.077
1000Genomes	Global	Study-wide	5008	G=0.917	A=0.083
1000Genomes	South Asian	Sub	978	G=0.900	A=0.100
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.935	A=0.065
The Genome Aggregation Database	African	Sub	8728	G=0.982	A=0.018
The Genome Aggregation Database	American	Sub	836	G=0.900	A=0.100
The Genome Aggregation Database	East Asian	Sub	1620	G=0.840	A=0.160
The Genome Aggregation Database	Europe	Sub	18494	G=0.921	A=0.078
The Genome Aggregation Database	Global	Study-wide	29980	G=0.933	A=0.066
The Genome Aggregation Database	Other	Sub	302	G=0.870	A=0.130
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.957	A=0.042
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.937	A=0.063

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
rs7411728	0.00063	alcohol consumption (maxi-drinks)	24277619

eQTL of rs7411728 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 rs7411728 in Fetal Brain

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

Enhancer Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr1	60412934	60413362	E067	-33427
chr1	60437028	60437601	E067	-9188
chr1	60437715	60438767	E067	-8022
chr1	60442082	60442856	E067	-3933
chr1	60413372	60413492	E068	-33297
chr1	60437715	60438767	E068	-8022
chr1	60453177	60453357	E068	6388
chr1	60411650	60411775	E069	-35014
chr1	60411884	60411971	E069	-34818
chr1	60413372	60413492	E069	-33297
chr1	60437028	60437601	E069	-9188
chr1	60437715	60438767	E069	-8022
chr1	60483163	60483222	E069	36374
chr1	60437028	60437601	E070	-9188
chr1	60439139	60439214	E070	-7575
chr1	60444223	60444535	E070	-2254
chr1	60452259	60452504	E070	5470
chr1	60453177	60453357	E070	6388
chr1	60483163	60483222	E070	36374
chr1	60411650	60411775	E071	-35014
chr1	60412934	60413362	E071	-33427
chr1	60413372	60413492	E071	-33297
chr1	60442082	60442856	E071	-3933
chr1	60411650	60411775	E072	-35014
chr1	60411884	60411971	E072	-34818
chr1	60413372	60413492	E072	-33297
chr1	60437715	60438767	E072	-8022
chr1	60412934	60413362	E073	-33427
chr1	60413372	60413492	E073	-33297
chr1	60437028	60437601	E073	-9188
chr1	60442082	60442856	E073	-3933
chr1	60411650	60411775	E074	-35014
chr1	60412934	60413362	E074	-33427
chr1	60413372	60413492	E074	-33297
chr1	60437028	60437601	E074	-9188
chr1	60437715	60438767	E074	-8022
chr1	60442082	60442856	E074	-3933
chr1	60452259	60452504	E074	5470
chr1	60437028	60437601	E081	-9188
chr1	60437715	60438767	E081	-8022
chr1	60439139	60439214	E081	-7575
chr1	60442082	60442856	E081	-3933
chr1	60465578	60465656	E081	18789
chr1	60466015	60466281	E081	19226
chr1	60439139	60439214	E082	-7575
chr1	60439408	60439463	E082	-7326
chr1	60439536	60439609	E082	-7180
chr1	60451556	60452153	E082	4767
chr1	60452259	60452504	E082	5470
chr1	60452582	60453055	E082	5793

rs7411728