rs11066019

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

ACAD10 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0082 (2433/29478,GnomAD)
G=0086 (2506/29118,TOPMED)
G=0197 (986/5008,1000G)
G=0004 (14/3854,ALSPAC)
G=0003 (11/3708,TWINSUK)

Position: chr12:111746083 (GRCh38.p7) (12q24.12)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 181 Enhancers around

Promoter: 10 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.111746083A>G
GRCh37.p13 chr 12	NC_000012.11:g.112183887A>G

Gene: ACAD10, acyl-CoA dehydrogenase family member 10(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ACAD10 transcript variant 1	NM_001136538.1:c.	N/A	Intron Variant
ACAD10 transcript variant 2	NM_025247.5:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.819	G=0.181
1000Genomes	American	Sub	694	A=0.890	G=0.110
1000Genomes	East Asian	Sub	1008	A=0.420	G=0.580
1000Genomes	Europe	Sub	1006	A=0.997	G=0.003
1000Genomes	Global	Study-wide	5008	A=0.803	G=0.197
1000Genomes	South Asian	Sub	978	A=0.920	G=0.080
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.996	G=0.004
The Genome Aggregation Database	African	Sub	8642	A=0.858	G=0.142
The Genome Aggregation Database	American	Sub	830	A=0.850	G=0.150
The Genome Aggregation Database	East Asian	Sub	1616	A=0.370	G=0.630
The Genome Aggregation Database	Europe	Sub	18088	A=0.996	G=0.003
The Genome Aggregation Database	Global	Study-wide	29478	A=0.917	G=0.082
The Genome Aggregation Database	Other	Sub	302	A=1.000	G=0.000
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.913	G=0.086
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.997	G=0.003

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

P-Value

SNP ID	p-value	Traits	Study
rs11066019	0.000531	alcohol consumption (maxi-drinks)	24277619

eQTL of rs11066019 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 rs11066019 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 )
chr12	112153115	112153510	E067	-30377
chr12	112153601	112153651	E067	-30236
chr12	112191009	112191667	E067	7122
chr12	112192887	112192956	E067	9000
chr12	112211077	112211234	E067	27190
chr12	112211239	112211372	E067	27352
chr12	112211459	112214305	E067	27572
chr12	112214755	112214834	E067	30868
chr12	112214875	112215915	E067	30988
chr12	112226052	112226466	E067	42165
chr12	112152787	112153106	E068	-30781
chr12	112153115	112153510	E068	-30377
chr12	112153601	112153651	E068	-30236
chr12	112153981	112154032	E068	-29855
chr12	112178800	112179005	E068	-4882
chr12	112179012	112179062	E068	-4825
chr12	112179128	112179480	E068	-4407
chr12	112185180	112185382	E068	1293
chr12	112185650	112185847	E068	1763
chr12	112185892	112186627	E068	2005
chr12	112186780	112187002	E068	2893
chr12	112187111	112187283	E068	3224
chr12	112187316	112187529	E068	3429
chr12	112191808	112191862	E068	7921
chr12	112191936	112192017	E068	8049
chr12	112192094	112192356	E068	8207
chr12	112192413	112192846	E068	8526
chr12	112193493	112193555	E068	9606
chr12	112193706	112193829	E068	9819
chr12	112194124	112194251	E068	10237
chr12	112194358	112194424	E068	10471
chr12	112194468	112194518	E068	10581
chr12	112194589	112194676	E068	10702
chr12	112194787	112194870	E068	10900
chr12	112194873	112194955	E068	10986
chr12	112194958	112196457	E068	11071
chr12	112196517	112196597	E068	12630
chr12	112206883	112207004	E068	22996
chr12	112207057	112207139	E068	23170
chr12	112207231	112207372	E068	23344
chr12	112211077	112211234	E068	27190
chr12	112211239	112211372	E068	27352
chr12	112211459	112214305	E068	27572
chr12	112214755	112214834	E068	30868
chr12	112186780	112187002	E069	2893
chr12	112191009	112191667	E069	7122
chr12	112191808	112191862	E069	7921
chr12	112191936	112192017	E069	8049
chr12	112192094	112192356	E069	8207
chr12	112192413	112192846	E069	8526
chr12	112194124	112194251	E069	10237
chr12	112194358	112194424	E069	10471
chr12	112194468	112194518	E069	10581
chr12	112194589	112194676	E069	10702
chr12	112194787	112194870	E069	10900
chr12	112194873	112194955	E069	10986
chr12	112194958	112196457	E069	11071
chr12	112206883	112207004	E069	22996
chr12	112211077	112211234	E069	27190
chr12	112211239	112211372	E069	27352
chr12	112211459	112214305	E069	27572
chr12	112226052	112226466	E069	42165
chr12	112194958	112196457	E070	11071
chr12	112206883	112207004	E070	22996
chr12	112153115	112153510	E071	-30377
chr12	112178800	112179005	E071	-4882
chr12	112179012	112179062	E071	-4825
chr12	112179128	112179480	E071	-4407
chr12	112191009	112191667	E071	7122
chr12	112191808	112191862	E071	7921
chr12	112191936	112192017	E071	8049
chr12	112192094	112192356	E071	8207
chr12	112192413	112192846	E071	8526
chr12	112192887	112192956	E071	9000
chr12	112194958	112196457	E071	11071
chr12	112196517	112196597	E071	12630
chr12	112203436	112203528	E071	19549
chr12	112203536	112203790	E071	19649
chr12	112206883	112207004	E071	22996
chr12	112211077	112211234	E071	27190
chr12	112211239	112211372	E071	27352
chr12	112211459	112214305	E071	27572
chr12	112214755	112214834	E071	30868
chr12	112226052	112226466	E071	42165
chr12	112152787	112153106	E072	-30781
chr12	112153115	112153510	E072	-30377
chr12	112192094	112192356	E072	8207
chr12	112192413	112192846	E072	8526
chr12	112194468	112194518	E072	10581
chr12	112194589	112194676	E072	10702
chr12	112194787	112194870	E072	10900
chr12	112194873	112194955	E072	10986
chr12	112194958	112196457	E072	11071
chr12	112206883	112207004	E072	22996
chr12	112207057	112207139	E072	23170
chr12	112211077	112211234	E072	27190
chr12	112211239	112211372	E072	27352
chr12	112211459	112214305	E072	27572
chr12	112214755	112214834	E072	30868
chr12	112226052	112226466	E072	42165
chr12	112191009	112191667	E073	7122
chr12	112191808	112191862	E073	7921
chr12	112191936	112192017	E073	8049
chr12	112192094	112192356	E073	8207
chr12	112192413	112192846	E073	8526
chr12	112192887	112192956	E073	9000
chr12	112194589	112194676	E073	10702
chr12	112194787	112194870	E073	10900
chr12	112194873	112194955	E073	10986
chr12	112194958	112196457	E073	11071
chr12	112206883	112207004	E073	22996
chr12	112207057	112207139	E073	23170
chr12	112207231	112207372	E073	23344
chr12	112207485	112207617	E073	23598
chr12	112207987	112208189	E073	24100
chr12	112211077	112211234	E073	27190
chr12	112211239	112211372	E073	27352
chr12	112211459	112214305	E073	27572
chr12	112214755	112214834	E073	30868
chr12	112214875	112215915	E073	30988
chr12	112191009	112191667	E074	7122
chr12	112191808	112191862	E074	7921
chr12	112191936	112192017	E074	8049
chr12	112192094	112192356	E074	8207
chr12	112192413	112192846	E074	8526
chr12	112194124	112194251	E074	10237
chr12	112194358	112194424	E074	10471
chr12	112194468	112194518	E074	10581
chr12	112194589	112194676	E074	10702
chr12	112194787	112194870	E074	10900
chr12	112206883	112207004	E074	22996
chr12	112207231	112207372	E074	23344
chr12	112207485	112207617	E074	23598
chr12	112207987	112208189	E074	24100
chr12	112211077	112211234	E074	27190
chr12	112211239	112211372	E074	27352
chr12	112211459	112214305	E074	27572
chr12	112214755	112214834	E074	30868
chr12	112214875	112215915	E074	30988
chr12	112225114	112225224	E074	41227
chr12	112225257	112225450	E074	41370
chr12	112153115	112153510	E081	-30377
chr12	112184727	112184805	E081	840
chr12	112184827	112184877	E081	940
chr12	112185180	112185382	E081	1293
chr12	112185650	112185847	E081	1763
chr12	112185892	112186627	E081	2005
chr12	112186780	112187002	E081	2893
chr12	112187111	112187283	E081	3224
chr12	112187316	112187529	E081	3429
chr12	112191009	112191667	E081	7122
chr12	112191808	112191862	E081	7921
chr12	112191936	112192017	E081	8049
chr12	112192094	112192356	E081	8207
chr12	112192413	112192846	E081	8526
chr12	112192887	112192956	E081	9000
chr12	112193192	112193259	E081	9305
chr12	112193317	112193367	E081	9430
chr12	112193493	112193555	E081	9606
chr12	112193706	112193829	E081	9819
chr12	112194124	112194251	E081	10237
chr12	112194358	112194424	E081	10471
chr12	112194468	112194518	E081	10581
chr12	112194589	112194676	E081	10702
chr12	112194787	112194870	E081	10900
chr12	112194873	112194955	E081	10986
chr12	112194958	112196457	E081	11071
chr12	112196517	112196597	E081	12630
chr12	112196660	112196779	E081	12773
chr12	112152787	112153106	E082	-30781
chr12	112153115	112153510	E082	-30377
chr12	112185180	112185382	E082	1293
chr12	112185650	112185847	E082	1763
chr12	112185892	112186627	E082	2005
chr12	112186780	112187002	E082	2893
chr12	112187111	112187283	E082	3224
chr12	112187316	112187529	E082	3429
chr12	112192413	112192846	E082	8526
chr12	112192887	112192956	E082	9000
chr12	112194958	112196457	E082	11071
chr12	112196517	112196597	E082	12630

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr12	112204096	112206016	E067	20209
chr12	112204096	112206016	E068	20209
chr12	112204096	112206016	E069	20209
chr12	112204096	112206016	E070	20209
chr12	112204096	112206016	E071	20209
chr12	112204096	112206016	E072	20209
chr12	112204096	112206016	E073	20209
chr12	112204096	112206016	E074	20209
chr12	112204096	112206016	E081	20209
chr12	112204096	112206016	E082	20209