rs324119

Organism: Homo sapiens

Alleles: C>A / C>G / C>T

Gene : Feature

ZNF528 : Intron Variant
ZNF528-AS1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C==0078 (2354/29862,GnomAD)
C==0055 (1604/29118,TOPMED)
C==0101 (505/5008,1000G)
C==0087 (336/3854,ALSPAC)
C==0086 (318/3708,TWINSUK)

Position: chr19:52396303 (GRCh38.p7) (19q13.41)

Phenotype: AD

Dataset:

GWASdb2

Publications: 2 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 19	NC_000019.10:g.52396303C>A
GRCh38.p7 chr 19	NC_000019.10:g.52396303C>G
GRCh38.p7 chr 19	NC_000019.10:g.52396303C>T
GRCh37.p13 chr 19	NC_000019.9:g.52899556C>A
GRCh37.p13 chr 19	NC_000019.9:g.52899556C>G
GRCh37.p13 chr 19	NC_000019.9:g.52899556C>T

Gene: ZNF528, zinc finger protein 528(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ZNF528 transcript	NM_032423.2:c.	N/A	Genic Upstream Transcript Variant
ZNF528 transcript variant X6	XM_017027363.1:c.	N/A	Intron Variant
ZNF528 transcript variant X10	XM_005259323.1:c.	N/A	Genic Upstream Transcript Variant
ZNF528 transcript variant X1	XM_006723418.2:c.	N/A	Genic Upstream Transcript Variant
ZNF528 transcript variant X2	XM_011527392.1:c.	N/A	Genic Upstream Transcript Variant
ZNF528 transcript variant X8	XM_011527394.2:c.	N/A	Genic Upstream Transcript Variant
ZNF528 transcript variant X3	XM_017027360.1:c.	N/A	Genic Upstream Transcript Variant
ZNF528 transcript variant X4	XM_017027361.1:c.	N/A	Genic Upstream Transcript Variant
ZNF528 transcript variant X6	XM_017027362.1:c.	N/A	Genic Upstream Transcript Variant
ZNF528 transcript variant X7	XM_017027364.1:c.	N/A	Genic Upstream Transcript Variant
ZNF528 transcript variant X9	XM_017027365.1:c.	N/A	Genic Upstream Transcript Variant

Gene: ZNF528-AS1, ZNF528 antisense RNA 1(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ZNF528-AS1 transcript	NR_125345.1:n.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.008	T=0.992
1000Genomes	American	Sub	694	C=0.090	T=0.910
1000Genomes	East Asian	Sub	1008	C=0.203	T=0.797
1000Genomes	Europe	Sub	1006	C=0.095	T=0.905
1000Genomes	Global	Study-wide	5008	C=0.101	T=0.899
1000Genomes	South Asian	Sub	978	C=0.140	T=0.860
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.087	T=0.913
The Genome Aggregation Database	African	Sub	8710	C=0.017	T=0.983
The Genome Aggregation Database	American	Sub	838	C=0.080	T=0.920
The Genome Aggregation Database	East Asian	Sub	1618	C=0.159	T=0.841
The Genome Aggregation Database	Europe	Sub	18394	C=0.100	T=0.899
The Genome Aggregation Database	Global	Study-wide	29862	C=0.078	T=0.921
The Genome Aggregation Database	Other	Sub	302	C=0.090	T=0.910
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.055	T=0.944
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.086	T=0.914

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
23743675	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Kapoor M	Hum Genet

P-Value

SNP ID	p-value	Traits	Study
rs324119	0.000508	alcohol consumption	23743675
rs324119	0.000843	alcohol dependence	21314694

eQTL of rs324119 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr19:52899556	ZNF528	ENSG00000167555.9	C>T	2.7141e-16	-1546	Caudate_basal_ganglia

meQTL of rs324119 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.