SNP Detail Info-rs12610507

Organism: Homo sapiens

Alleles: A>C

Gene : Feature

ZNF563 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0229 (6864/29950,GnomAD)
C=0243 (7079/29118,TOPMED)
C=0223 (1117/5008,1000G)
C=0179 (689/3854,ALSPAC)
C=0168 (624/3708,TWINSUK)

Position: chr19:12325596 (GRCh38.p7) (19p13.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 20 Enhancers around

Promoter: 29 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 19	NC_000019.10:g.12325596A>C
GRCh37.p13 chr 19	NC_000019.9:g.12436410A>C

Molecule type	Change	Amino acid[Codon]	SO Term
ZNF563 transcript variant 1	NM_145276.2:c.	N/A	Intron Variant
ZNF563 transcript variant X6	XM_005259750.4:c.	N/A	Intron Variant
ZNF563 transcript variant X7	XM_005259751.3:c.	N/A	Intron Variant
ZNF563 transcript variant X2	XM_006722650.3:c.	N/A	Intron Variant
ZNF563 transcript variant X5	XM_006722651.3:c.	N/A	Intron Variant
ZNF563 transcript variant X3	XM_011527700.2:c.	N/A	Intron Variant
ZNF563 transcript variant X1	XM_011527698.1:c.	N/A	Genic Upstream Transcript Variant
ZNF563 transcript variant X4	XM_011527699.2:c.	N/A	Genic Upstream Transcript Variant
ZNF563 transcript variant X7	XM_017026332.1:c.	N/A	Genic Upstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.671	C=0.329
1000Genomes	American	Sub	694	A=0.820	C=0.180
1000Genomes	East Asian	Sub	1008	A=0.765	C=0.235
1000Genomes	Europe	Sub	1006	A=0.821	C=0.179
1000Genomes	Global	Study-wide	5008	A=0.777	C=0.223
1000Genomes	South Asian	Sub	978	A=0.850	C=0.150
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.821	C=0.179
The Genome Aggregation Database	African	Sub	8710	A=0.693	C=0.307
The Genome Aggregation Database	American	Sub	838	A=0.850	C=0.150
The Genome Aggregation Database	East Asian	Sub	1618	A=0.721	C=0.279
The Genome Aggregation Database	Europe	Sub	18482	A=0.806	C=0.193
The Genome Aggregation Database	Global	Study-wide	29950	A=0.770	C=0.229
The Genome Aggregation Database	Other	Sub	302	A=0.870	C=0.130
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.756	C=0.243
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.832	C=0.168

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

SNP ID	p-value	Traits	Study
rs12610507	0.000869	alcohol dependence	20201924

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr19	12474608	12474657	E067	38198
chr19	12445153	12445216	E068	8743
chr19	12403471	12403514	E070	-32896
chr19	12403550	12403635	E070	-32775
chr19	12445153	12445216	E070	8743
chr19	12445153	12445216	E071	8743
chr19	12445153	12445216	E072	8743
chr19	12403353	12403426	E073	-32984
chr19	12403471	12403514	E073	-32896
chr19	12403550	12403635	E073	-32775
chr19	12474191	12474310	E073	37781
chr19	12388871	12388923	E074	-47487
chr19	12388999	12389059	E074	-47351
chr19	12389635	12389675	E074	-46735
chr19	12389695	12389735	E074	-46675
chr19	12389785	12389835	E074	-46575
chr19	12390022	12390072	E074	-46338
chr19	12474191	12474310	E074	37781
chr19	12403471	12403514	E082	-32896
chr19	12403550	12403635	E082	-32775

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	12404346	12406467	E067	-29943
chr19	12443353	12445037	E067	6943
chr19	12475288	12477355	E067	38878
chr19	12404346	12406467	E068	-29943
chr19	12443353	12445037	E068	6943
chr19	12475288	12477355	E068	38878
chr19	12404346	12406467	E069	-29943
chr19	12443353	12445037	E069	6943
chr19	12475288	12477355	E069	38878
chr19	12404346	12406467	E070	-29943
chr19	12443353	12445037	E070	6943
chr19	12475288	12477355	E070	38878
chr19	12404346	12406467	E071	-29943
chr19	12443353	12445037	E071	6943
chr19	12475288	12477355	E071	38878
chr19	12404346	12406467	E072	-29943
chr19	12443353	12445037	E072	6943
chr19	12475288	12477355	E072	38878
chr19	12404346	12406467	E073	-29943
chr19	12443353	12445037	E073	6943
chr19	12475288	12477355	E073	38878
chr19	12404346	12406467	E074	-29943
chr19	12443353	12445037	E074	6943
chr19	12475288	12477355	E074	38878
chr19	12404346	12406467	E081	-29943
chr19	12443353	12445037	E081	6943
chr19	12404346	12406467	E082	-29943
chr19	12443353	12445037	E082	6943
chr19	12475288	12477355	E082	38878

rs12610507