rs1198394

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0115 (3449/29960,GnomAD)
A=0095 (2776/29118,TOPMED)
A=0202 (1014/5008,1000G)
A=0079 (306/3854,ALSPAC)
A=0071 (265/3708,TWINSUK)

Position: chr1:43074667 (GRCh38.p7) (1p34.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 87 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.43074667G>A
GRCh37.p13 chr 1	NC_000001.10:g.43540338G>A

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.930	A=0.070
1000Genomes	American	Sub	694	G=0.780	A=0.220
1000Genomes	East Asian	Sub	1008	G=0.465	A=0.535
1000Genomes	Europe	Sub	1006	G=0.931	A=0.069
1000Genomes	Global	Study-wide	5008	G=0.798	A=0.202
1000Genomes	South Asian	Sub	978	G=0.830	A=0.170
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.921	A=0.079
The Genome Aggregation Database	African	Sub	8728	G=0.928	A=0.072
The Genome Aggregation Database	American	Sub	836	G=0.750	A=0.250
The Genome Aggregation Database	East Asian	Sub	1606	G=0.473	A=0.527
The Genome Aggregation Database	Europe	Sub	18488	G=0.905	A=0.094
The Genome Aggregation Database	Global	Study-wide	29960	G=0.884	A=0.115
The Genome Aggregation Database	Other	Sub	302	G=0.940	A=0.060
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.904	A=0.095
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.929	A=0.071

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
rs1198394	0.000907	alcohol dependence	21314694

eQTL of rs1198394 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 rs1198394 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	43534608	43534840	E067	-5498
chr1	43535016	43535254	E067	-5084
chr1	43535398	43535774	E067	-4564
chr1	43535794	43536012	E067	-4326
chr1	43539118	43539784	E067	-554
chr1	43522562	43523384	E068	-16954
chr1	43523829	43523880	E068	-16458
chr1	43523911	43523961	E068	-16377
chr1	43523962	43524898	E068	-15440
chr1	43533370	43533461	E068	-6877
chr1	43534608	43534840	E068	-5498
chr1	43535016	43535254	E068	-5084
chr1	43535398	43535774	E068	-4564
chr1	43508717	43508840	E069	-31498
chr1	43508883	43508987	E069	-31351
chr1	43509489	43509656	E069	-30682
chr1	43534608	43534840	E069	-5498
chr1	43535016	43535254	E069	-5084
chr1	43535398	43535774	E069	-4564
chr1	43504189	43504593	E070	-35745
chr1	43504875	43504994	E070	-35344
chr1	43525207	43525276	E070	-15062
chr1	43534608	43534840	E070	-5498
chr1	43501571	43501646	E071	-38692
chr1	43501776	43501948	E071	-38390
chr1	43502147	43502433	E071	-37905
chr1	43502463	43502513	E071	-37825
chr1	43509489	43509656	E071	-30682
chr1	43535016	43535254	E071	-5084
chr1	43535398	43535774	E071	-4564
chr1	43539118	43539784	E071	-554
chr1	43534608	43534840	E072	-5498
chr1	43535016	43535254	E072	-5084
chr1	43535398	43535774	E072	-4564
chr1	43535794	43536012	E072	-4326
chr1	43534608	43534840	E073	-5498
chr1	43535016	43535254	E073	-5084
chr1	43535398	43535774	E073	-4564
chr1	43501571	43501646	E074	-38692
chr1	43501776	43501948	E074	-38390
chr1	43502147	43502433	E074	-37905
chr1	43502463	43502513	E074	-37825
chr1	43502625	43502707	E074	-37631
chr1	43502718	43502758	E074	-37580
chr1	43502773	43502871	E074	-37467
chr1	43502904	43502975	E074	-37363
chr1	43508056	43508144	E074	-32194
chr1	43508557	43508612	E074	-31726
chr1	43508717	43508840	E074	-31498
chr1	43508883	43508987	E074	-31351
chr1	43509489	43509656	E074	-30682
chr1	43534608	43534840	E074	-5498
chr1	43535398	43535774	E074	-4564
chr1	43535794	43536012	E074	-4326
chr1	43501776	43501948	E081	-38390
chr1	43502147	43502433	E081	-37905
chr1	43502463	43502513	E081	-37825
chr1	43502625	43502707	E081	-37631
chr1	43502718	43502758	E081	-37580
chr1	43502773	43502871	E081	-37467
chr1	43502904	43502975	E081	-37363
chr1	43503101	43503545	E081	-36793
chr1	43504189	43504593	E081	-35745
chr1	43504875	43504994	E081	-35344
chr1	43505104	43505279	E081	-35059
chr1	43505445	43505565	E081	-34773
chr1	43522240	43522290	E081	-18048
chr1	43522344	43522394	E081	-17944
chr1	43522562	43523384	E081	-16954
chr1	43523829	43523880	E081	-16458
chr1	43523911	43523961	E081	-16377
chr1	43523962	43524898	E081	-15440
chr1	43528076	43528362	E081	-11976
chr1	43528626	43528710	E081	-11628
chr1	43534608	43534840	E081	-5498
chr1	43501776	43501948	E082	-38390
chr1	43502147	43502433	E082	-37905
chr1	43502463	43502513	E082	-37825
chr1	43502625	43502707	E082	-37631
chr1	43502718	43502758	E082	-37580
chr1	43502773	43502871	E082	-37467
chr1	43502904	43502975	E082	-37363
chr1	43503101	43503545	E082	-36793
chr1	43505445	43505565	E082	-34773
chr1	43522562	43523384	E082	-16954
chr1	43528076	43528362	E082	-11976
chr1	43534608	43534840	E082	-5498