rs12372234

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0209 (6287/29968,GnomAD)
T=0172 (5013/29118,TOPMED)
T=0200 (1004/5008,1000G)
T=0227 (875/3854,ALSPAC)
T=0236 (874/3708,TWINSUK)

Position: chr12:449257 (GRCh38.p7) (12p13.33)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 22 Enhancers around

Promoter: 41 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.449257C>T
GRCh37.p13 chr 12	NC_000012.11:g.558423C>T

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.894	T=0.106
1000Genomes	American	Sub	694	C=0.840	T=0.160
1000Genomes	East Asian	Sub	1008	C=0.700	T=0.300
1000Genomes	Europe	Sub	1006	C=0.771	T=0.229
1000Genomes	Global	Study-wide	5008	C=0.800	T=0.200
1000Genomes	South Asian	Sub	978	C=0.780	T=0.220
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.773	T=0.227
The Genome Aggregation Database	African	Sub	8718	C=0.887	T=0.113
The Genome Aggregation Database	American	Sub	838	C=0.840	T=0.160
The Genome Aggregation Database	East Asian	Sub	1618	C=0.775	T=0.225
The Genome Aggregation Database	Europe	Sub	18492	C=0.743	T=0.257
The Genome Aggregation Database	Global	Study-wide	29968	C=0.790	T=0.209
The Genome Aggregation Database	Other	Sub	302	C=0.820	T=0.180
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.827	T=0.172
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.764	T=0.236

PMID	Title	Author	Journal
24277619	ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.	Quillen EE	Am J Med Genet B Neuropsychiatr Genet

SNP ID	p-value	Traits	Study
rs12372234	2.4E-05	alcohol dependence	24277619

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr12:558423	CCDC77	ENSG00000120647.5	C>T	3.4736e-7	59802	Hypothalamus
Chr12:558423	B4GALNT3	ENSG00000139044.6	C>T	7.9649e-3	-11107	Cerebellar_Hemisphere

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

There is no significant Hi-C chromatin interaction data for this SNP.

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr12	551383	551778	E067	-6645
chr12	590097	590611	E067	31674
chr12	590614	590938	E067	32191
chr12	531437	531552	E068	-26871
chr12	512338	512388	E070	-46035
chr12	523775	523927	E070	-34496
chr12	523969	524067	E070	-34356
chr12	524190	524378	E070	-34045
chr12	559474	559680	E070	1051
chr12	516035	516379	E071	-42044
chr12	516501	516541	E071	-41882
chr12	516648	516773	E071	-41650
chr12	590097	590611	E072	31674
chr12	590614	590938	E072	32191
chr12	590097	590611	E073	31674
chr12	590614	590938	E073	32191
chr12	512002	512126	E081	-46297
chr12	512338	512388	E081	-46035
chr12	568205	568269	E081	9782
chr12	523775	523927	E082	-34496
chr12	523969	524067	E082	-34356
chr12	524190	524378	E082	-34045

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr12	510088	511708	E067	-46715
chr12	568364	569471	E067	9941
chr12	569495	569973	E067	11072
chr12	510088	511708	E068	-46715
chr12	562552	563252	E068	4129
chr12	568364	569471	E068	9941
chr12	569495	569973	E068	11072
chr12	570050	570451	E068	11627
chr12	510088	511708	E069	-46715
chr12	568364	569471	E069	9941
chr12	569495	569973	E069	11072
chr12	570050	570451	E069	11627
chr12	510088	511708	E070	-46715
chr12	568364	569471	E070	9941
chr12	569495	569973	E070	11072
chr12	570050	570451	E070	11627
chr12	510088	511708	E071	-46715
chr12	562552	563252	E071	4129
chr12	568364	569471	E071	9941
chr12	569495	569973	E071	11072
chr12	570050	570451	E071	11627
chr12	570494	570579	E071	12071
chr12	510088	511708	E072	-46715
chr12	562552	563252	E072	4129
chr12	568364	569471	E072	9941
chr12	569495	569973	E072	11072
chr12	570050	570451	E072	11627
chr12	570494	570579	E072	12071
chr12	510088	511708	E073	-46715
chr12	568364	569471	E073	9941
chr12	569495	569973	E073	11072
chr12	570050	570451	E073	11627
chr12	570494	570579	E073	12071
chr12	510088	511708	E074	-46715
chr12	562552	563252	E074	4129
chr12	510088	511708	E081	-46715
chr12	510088	511708	E082	-46715
chr12	568364	569471	E082	9941
chr12	569495	569973	E082	11072
chr12	570050	570451	E082	11627
chr12	570494	570579	E082	12071