rs2448038

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0126 (3799/29980,GnomAD)
A==0131 (3828/29118,TOPMED)
A==0122 (611/5008,1000G)
A==0142 (546/3854,ALSPAC)
A==0138 (510/3708,TWINSUK)

Position: chr12:11950371 (GRCh38.p7) (12p13.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 64 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.11950371A>G
GRCh37.p13 chr 12	NC_000012.11:g.12103305A>G

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.137	G=0.863
1000Genomes	American	Sub	694	A=0.160	G=0.840
1000Genomes	East Asian	Sub	1008	A=0.070	G=0.930
1000Genomes	Europe	Sub	1006	A=0.124	G=0.876
1000Genomes	Global	Study-wide	5008	A=0.122	G=0.878
1000Genomes	South Asian	Sub	978	A=0.130	G=0.870
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.142	G=0.858
The Genome Aggregation Database	African	Sub	8732	A=0.137	G=0.863
The Genome Aggregation Database	American	Sub	838	A=0.160	G=0.840
The Genome Aggregation Database	East Asian	Sub	1622	A=0.060	G=0.940
The Genome Aggregation Database	Europe	Sub	18486	A=0.127	G=0.872
The Genome Aggregation Database	Global	Study-wide	29980	A=0.126	G=0.873
The Genome Aggregation Database	Other	Sub	302	A=0.080	G=0.920
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.131	G=0.868
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.138	G=0.862

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

P-Value

SNP ID	p-value	Traits	Study
rs2448038	0.00091	alcohol dependence	20201924

eQTL of rs2448038 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 rs2448038 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 )
chr12	12102600	12102767	E067	-538
chr12	12102893	12103488	E067	0
chr12	12103564	12103657	E067	259
chr12	12103720	12103793	E067	415
chr12	12126362	12126789	E067	23057
chr12	12102600	12102767	E068	-538
chr12	12102893	12103488	E068	0
chr12	12103564	12103657	E068	259
chr12	12103720	12103793	E068	415
chr12	12126006	12126046	E068	22701
chr12	12102600	12102767	E069	-538
chr12	12102893	12103488	E069	0
chr12	12126362	12126789	E069	23057
chr12	12102166	12102216	E070	-1089
chr12	12103564	12103657	E070	259
chr12	12103720	12103793	E070	415
chr12	12102600	12102767	E071	-538
chr12	12103564	12103657	E071	259
chr12	12103720	12103793	E071	415
chr12	12126362	12126789	E071	23057
chr12	12102600	12102767	E072	-538
chr12	12102893	12103488	E072	0
chr12	12103564	12103657	E072	259
chr12	12103720	12103793	E072	415
chr12	12102893	12103488	E073	0
chr12	12102600	12102767	E074	-538
chr12	12102893	12103488	E074	0
chr12	12103564	12103657	E074	259
chr12	12103720	12103793	E074	415
chr12	12099089	12099356	E081	-3949
chr12	12099391	12099499	E081	-3806
chr12	12099587	12099651	E081	-3654
chr12	12099804	12099854	E081	-3451
chr12	12099873	12099923	E081	-3382
chr12	12101464	12101528	E081	-1777
chr12	12102166	12102216	E081	-1089
chr12	12102600	12102767	E081	-538
chr12	12102893	12103488	E081	0
chr12	12103564	12103657	E081	259
chr12	12111083	12112345	E081	7778
chr12	12112670	12112720	E081	9365
chr12	12112786	12112970	E081	9481
chr12	12113476	12113976	E081	10171
chr12	12114045	12114095	E081	10740
chr12	12114281	12114424	E081	10976
chr12	12114561	12114650	E081	11256
chr12	12114651	12114705	E081	11346
chr12	12114743	12114954	E081	11438
chr12	12115010	12115072	E081	11705
chr12	12134842	12134956	E081	31537
chr12	12135083	12135124	E081	31778
chr12	12135136	12135190	E081	31831
chr12	12135230	12135361	E081	31925
chr12	12135393	12135443	E081	32088
chr12	12135505	12135766	E081	32200
chr12	12135960	12136000	E081	32655
chr12	12145472	12145522	E081	42167
chr12	12098662	12098782	E082	-4523
chr12	12102600	12102767	E082	-538
chr12	12112670	12112720	E082	9365
chr12	12114281	12114424	E082	10976
chr12	12114561	12114650	E082	11256
chr12	12114651	12114705	E082	11346
chr12	12114743	12114954	E082	11438