rs6809441

Organism: Homo sapiens

Alleles: T>C

Gene : Feature

ULK4 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0318 (9525/29904,GnomAD)
C=0336 (9789/29118,TOPMED)
C=0283 (1417/5008,1000G)
C=0319 (1230/3854,ALSPAC)
C=0326 (1207/3708,TWINSUK)

Position: chr3:41453114 (GRCh38.p7) (3p22.1)

Phenotype: AD

Dataset:

GWASCatalog

Publications: 3 publication(s)

Genomic View: See rs on genome

Enhancer: 2 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 3	NC_000003.12:g.41453114T>C
GRCh37.p13 chr 3	NC_000003.11:g.41494605T>C

Gene: ULK4, unc-51 like kinase 4(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ULK4 transcript variant 2	NM_001322500.1:c.	N/A	Intron Variant
ULK4 transcript variant 3	NM_001322501.1:c.	N/A	Intron Variant
ULK4 transcript variant 1	NM_017886.3:c.	N/A	Intron Variant
ULK4 transcript variant 4	NR_136342.1:n.	N/A	Intron Variant
ULK4 transcript variant X1	XM_011533874.2:c.	N/A	Intron Variant
ULK4 transcript variant X7	XM_011533880.2:c.	N/A	Intron Variant
ULK4 transcript variant X2	XM_017006711.1:c.	N/A	Intron Variant
ULK4 transcript variant X3	XM_017006712.1:c.	N/A	Intron Variant
ULK4 transcript variant X4	XR_001740188.1:n.	N/A	Genic Downstream Transcript Variant
ULK4 transcript variant X6	XR_001740189.1:n.	N/A	Genic Downstream Transcript Variant
ULK4 transcript variant X5	XR_427279.3:n.	N/A	Genic Downstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.647	C=0.353
1000Genomes	American	Sub	694	T=0.800	C=0.200
1000Genomes	East Asian	Sub	1008	T=0.868	C=0.132
1000Genomes	Europe	Sub	1006	T=0.674	C=0.326
1000Genomes	Global	Study-wide	5008	T=0.717	C=0.283
1000Genomes	South Asian	Sub	978	T=0.640	C=0.360
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.681	C=0.319
The Genome Aggregation Database	African	Sub	8692	T=0.633	C=0.367
The Genome Aggregation Database	American	Sub	836	T=0.820	C=0.180
The Genome Aggregation Database	East Asian	Sub	1612	T=0.878	C=0.122
The Genome Aggregation Database	Europe	Sub	18464	T=0.680	C=0.319
The Genome Aggregation Database	Global	Study-wide	29904	T=0.681	C=0.318
The Genome Aggregation Database	Other	Sub	300	T=0.670	C=0.330
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.663	C=0.336
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.674	C=0.326

PMID	Title	Author	Journal
28714907	Genetic Contribution to Alcohol Dependence: Investigation of a Heterogeneous German Sample of Individuals with Alcohol Dependence, Chronic Alcoholic Pancreatitis, and Alcohol-Related Cirrhosis.	Treutlein J	Genes (Basel)
22140419	BLOCK-BASED BAYESIAN EPISTASIS ASSOCIATION MAPPING WITH APPLICATION TO WTCCC TYPE 1 DIABETES DATA.	Zhang BY	Ann Appl Stat
22554139	Ultrahigh-dimensional variable selection method for whole-genome gene-gene interaction analysis.	Ueki M	BMC Bioinformatics

P-Value

SNP ID	p-value	Traits	Study
rs6809441	6E-06	alcohol dependence	28714907

eQTL of rs6809441 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 rs6809441 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 )
chr3	41478511	41478790	E070	-15815
chr3	41478511	41478790	E081	-15815