rs851171

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0283 (8503/29948,GnomAD)
A=0278 (8111/29116,TOPMED)
A=0243 (1217/5008,1000G)
A=0274 (1055/3854,ALSPAC)
A=0269 (996/3708,TWINSUK)

Position: chr1:223175678 (GRCh38.p7) (1q41)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 55 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.223175678G>A
GRCh37.p13 chr 1	NC_000001.10:g.223349020G>A

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.778	A=0.222
1000Genomes	American	Sub	694	G=0.810	A=0.190
1000Genomes	East Asian	Sub	1008	G=0.757	A=0.243
1000Genomes	Europe	Sub	1006	G=0.707	A=0.293
1000Genomes	Global	Study-wide	5008	G=0.757	A=0.243
1000Genomes	South Asian	Sub	978	G=0.740	A=0.260
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.726	A=0.274
The Genome Aggregation Database	African	Sub	8712	G=0.750	A=0.250
The Genome Aggregation Database	American	Sub	838	G=0.800	A=0.200
The Genome Aggregation Database	East Asian	Sub	1622	G=0.732	A=0.268
The Genome Aggregation Database	Europe	Sub	18474	G=0.695	A=0.304
The Genome Aggregation Database	Global	Study-wide	29948	G=0.716	A=0.283
The Genome Aggregation Database	Other	Sub	302	G=0.690	A=0.310
Trans-Omics for Precision Medicine	Global	Study-wide	29116	G=0.721	A=0.278
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.731	A=0.269

PMID	Title	Author	Journal
21314694	Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.	Kendler KS	Alcohol Clin Exp Res

P-Value

SNP ID	p-value	Traits	Study
rs851171	0.000588	alcohol dependence	21314694

eQTL of rs851171 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 rs851171 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	223306589	223306684	E067	-42336
chr1	223329998	223330103	E067	-18917
chr1	223300173	223300399	E068	-48621
chr1	223302529	223303249	E068	-45771
chr1	223306589	223306684	E068	-42336
chr1	223310728	223311055	E068	-37965
chr1	223311069	223311256	E068	-37764
chr1	223314046	223314213	E068	-34807
chr1	223314291	223314715	E068	-34305
chr1	223315033	223315097	E068	-33923
chr1	223315239	223315328	E068	-33692
chr1	223354037	223354784	E068	5017
chr1	223306589	223306684	E069	-42336
chr1	223314046	223314213	E069	-34807
chr1	223314291	223314715	E069	-34305
chr1	223317704	223317754	E069	-31266
chr1	223329998	223330103	E069	-18917
chr1	223300173	223300399	E070	-48621
chr1	223317704	223317754	E070	-31266
chr1	223317802	223317927	E070	-31093
chr1	223390196	223390296	E070	41176
chr1	223302529	223303249	E071	-45771
chr1	223306589	223306684	E071	-42336
chr1	223308113	223308174	E071	-40846
chr1	223308254	223308304	E071	-40716
chr1	223308400	223308450	E071	-40570
chr1	223308485	223308601	E071	-40419
chr1	223308653	223308863	E071	-40157
chr1	223308997	223309057	E071	-39963
chr1	223309266	223309359	E071	-39661
chr1	223309386	223309501	E071	-39519
chr1	223348484	223348619	E071	-401
chr1	223353232	223353524	E071	4212
chr1	223354037	223354784	E071	5017
chr1	223329998	223330103	E072	-18917
chr1	223306589	223306684	E073	-42336
chr1	223308113	223308174	E073	-40846
chr1	223308254	223308304	E073	-40716
chr1	223317704	223317754	E073	-31266
chr1	223317802	223317927	E073	-31093
chr1	223329998	223330103	E073	-18917
chr1	223299213	223299298	E074	-49722
chr1	223302529	223303249	E074	-45771
chr1	223314291	223314715	E074	-34305
chr1	223348484	223348619	E074	-401
chr1	223354037	223354784	E074	5017
chr1	223302529	223303249	E081	-45771
chr1	223317704	223317754	E081	-31266
chr1	223317802	223317927	E081	-31093
chr1	223318166	223318216	E081	-30804
chr1	223334037	223334116	E081	-14904
chr1	223385826	223386105	E081	36806
chr1	223390196	223390296	E081	41176
chr1	223317704	223317754	E082	-31266
chr1	223317802	223317927	E082	-31093