rs12822754

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0137 (4122/29922,GnomAD)
G=0148 (4320/29118,TOPMED)
G=0154 (771/5008,1000G)
G=0143 (552/3854,ALSPAC)
G=0140 (520/3708,TWINSUK)

Position: chr12:82646831 (GRCh38.p7) (12q21.31)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 102 Enhancers around

Promoter: 72 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.82646831A>G
GRCh37.p13 chr 12	NC_000012.11:g.83040610A>G

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.813	G=0.187
1000Genomes	American	Sub	694	A=0.890	G=0.110
1000Genomes	East Asian	Sub	1008	A=0.845	G=0.155
1000Genomes	Europe	Sub	1006	A=0.849	G=0.151
1000Genomes	Global	Study-wide	5008	A=0.846	G=0.154
1000Genomes	South Asian	Sub	978	A=0.860	G=0.140
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.857	G=0.143
The Genome Aggregation Database	African	Sub	8720	A=0.819	G=0.181
The Genome Aggregation Database	American	Sub	838	A=0.900	G=0.100
The Genome Aggregation Database	East Asian	Sub	1582	A=0.857	G=0.143
The Genome Aggregation Database	Europe	Sub	18480	A=0.881	G=0.118
The Genome Aggregation Database	Global	Study-wide	29922	A=0.862	G=0.137
The Genome Aggregation Database	Other	Sub	302	A=0.860	G=0.140
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.851	G=0.148
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.860	G=0.140

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

P-Value

SNP ID	p-value	Traits	Study
rs12822754	0.00064	alcohol dependence	21314694

eQTL of rs12822754 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 rs12822754 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	83019063	83019135	E067	-21475
chr12	83019260	83019658	E067	-20952
chr12	83044267	83045000	E067	3657
chr12	83084611	83084661	E067	44001
chr12	83084805	83084859	E067	44195
chr12	83084895	83084945	E067	44285
chr12	83085296	83085598	E067	44686
chr12	83085844	83086057	E067	45234
chr12	83086451	83086506	E067	45841
chr12	83044267	83045000	E068	3657
chr12	83057758	83057933	E068	17148
chr12	83057947	83058015	E068	17337
chr12	83075963	83076003	E068	35353
chr12	83076067	83076422	E068	35457
chr12	83076551	83076950	E068	35941
chr12	83085844	83086057	E068	45234
chr12	83086451	83086506	E068	45841
chr12	83089427	83089523	E068	48817
chr12	83089529	83089650	E068	48919
chr12	83089703	83089759	E068	49093
chr12	83020019	83020069	E069	-20541
chr12	83020889	83020939	E069	-19671
chr12	83021464	83021544	E069	-19066
chr12	83021567	83021632	E069	-18978
chr12	83044267	83045000	E069	3657
chr12	83053447	83053645	E069	12837
chr12	83053686	83053817	E069	13076
chr12	83075641	83075695	E069	35031
chr12	83075963	83076003	E069	35353
chr12	83076067	83076422	E069	35457
chr12	83076551	83076950	E069	35941
chr12	83084611	83084661	E069	44001
chr12	83084805	83084859	E069	44195
chr12	83084895	83084945	E069	44285
chr12	83075963	83076003	E070	35353
chr12	83076067	83076422	E070	35457
chr12	83076551	83076950	E070	35941
chr12	83084611	83084661	E070	44001
chr12	83084805	83084859	E070	44195
chr12	83084895	83084945	E070	44285
chr12	83085296	83085598	E070	44686
chr12	83085844	83086057	E070	45234
chr12	83086451	83086506	E070	45841
chr12	83019063	83019135	E071	-21475
chr12	83019260	83019658	E071	-20952
chr12	83020019	83020069	E071	-20541
chr12	83020889	83020939	E071	-19671
chr12	83041757	83041835	E071	1147
chr12	83044267	83045000	E071	3657
chr12	83057758	83057933	E071	17148
chr12	83057947	83058015	E071	17337
chr12	83059220	83059363	E071	18610
chr12	83085844	83086057	E071	45234
chr12	83088814	83089100	E071	48204
chr12	83089427	83089523	E071	48817
chr12	83089529	83089650	E071	48919
chr12	83019260	83019658	E072	-20952
chr12	83020019	83020069	E072	-20541
chr12	83020889	83020939	E072	-19671
chr12	83021464	83021544	E072	-19066
chr12	83021567	83021632	E072	-18978
chr12	83044267	83045000	E072	3657
chr12	83053686	83053817	E072	13076
chr12	83057355	83057405	E072	16745
chr12	83057758	83057933	E072	17148
chr12	83057947	83058015	E072	17337
chr12	83066965	83067196	E072	26355
chr12	83075963	83076003	E072	35353
chr12	83076067	83076422	E072	35457
chr12	83076551	83076950	E072	35941
chr12	83089427	83089523	E072	48817
chr12	83021464	83021544	E073	-19066
chr12	83021567	83021632	E073	-18978
chr12	83057758	83057933	E073	17148
chr12	83057947	83058015	E073	17337
chr12	83019063	83019135	E074	-21475
chr12	83019260	83019658	E074	-20952
chr12	83020019	83020069	E074	-20541
chr12	83020889	83020939	E074	-19671
chr12	83041757	83041835	E074	1147
chr12	83044267	83045000	E074	3657
chr12	83053447	83053645	E074	12837
chr12	83053686	83053817	E074	13076
chr12	83057758	83057933	E074	17148
chr12	83058344	83058394	E074	17734
chr12	83066965	83067196	E074	26355
chr12	83075963	83076003	E074	35353
chr12	83076067	83076422	E074	35457
chr12	83076551	83076950	E074	35941
chr12	83085844	83086057	E074	45234
chr12	83086451	83086506	E074	45841
chr12	83088814	83089100	E074	48204
chr12	83089427	83089523	E074	48817
chr12	83089529	83089650	E074	48919
chr12	83089703	83089759	E074	49093
chr12	83075641	83075695	E081	35031
chr12	83075963	83076003	E081	35353
chr12	83076067	83076422	E081	35457
chr12	83085844	83086057	E081	45234
chr12	83076067	83076422	E082	35457
chr12	83076551	83076950	E082	35941
chr12	83085844	83086057	E082	45234

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr12	83042094	83042312	E067	1484
chr12	83079312	83082294	E067	38702
chr12	83082295	83082382	E067	41685
chr12	83082454	83082679	E067	41844
chr12	83082690	83082846	E067	42080
chr12	83083192	83083515	E067	42582
chr12	83083636	83083923	E067	43026
chr12	83083956	83084174	E067	43346
chr12	83042094	83042312	E068	1484
chr12	83079312	83082294	E068	38702
chr12	83082295	83082382	E068	41685
chr12	83082454	83082679	E068	41844
chr12	83082690	83082846	E068	42080
chr12	83083192	83083515	E068	42582
chr12	83083636	83083923	E068	43026
chr12	83083956	83084174	E068	43346
chr12	83042094	83042312	E069	1484
chr12	83079312	83082294	E069	38702
chr12	83082295	83082382	E069	41685
chr12	83082454	83082679	E069	41844
chr12	83082690	83082846	E069	42080
chr12	83083192	83083515	E069	42582
chr12	83083636	83083923	E069	43026
chr12	83083956	83084174	E069	43346
chr12	83079312	83082294	E070	38702
chr12	83082295	83082382	E070	41685
chr12	83082454	83082679	E070	41844
chr12	83082690	83082846	E070	42080
chr12	83083192	83083515	E070	42582
chr12	83083636	83083923	E070	43026
chr12	83083956	83084174	E070	43346
chr12	83042094	83042312	E071	1484
chr12	83079312	83082294	E071	38702
chr12	83082295	83082382	E071	41685
chr12	83082454	83082679	E071	41844
chr12	83082690	83082846	E071	42080
chr12	83083192	83083515	E071	42582
chr12	83083636	83083923	E071	43026
chr12	83083956	83084174	E071	43346
chr12	83042094	83042312	E072	1484
chr12	83079312	83082294	E072	38702
chr12	83082295	83082382	E072	41685
chr12	83082454	83082679	E072	41844
chr12	83082690	83082846	E072	42080
chr12	83083192	83083515	E072	42582
chr12	83083636	83083923	E072	43026
chr12	83083956	83084174	E072	43346
chr12	83079312	83082294	E073	38702
chr12	83082295	83082382	E073	41685
chr12	83082454	83082679	E073	41844
chr12	83082690	83082846	E073	42080
chr12	83083192	83083515	E073	42582
chr12	83083636	83083923	E073	43026
chr12	83083956	83084174	E073	43346
chr12	83079312	83082294	E074	38702
chr12	83082295	83082382	E074	41685
chr12	83082454	83082679	E074	41844
chr12	83082690	83082846	E074	42080
chr12	83083192	83083515	E074	42582
chr12	83083636	83083923	E074	43026
chr12	83083956	83084174	E074	43346
chr12	83079312	83082294	E081	38702
chr12	83082295	83082382	E081	41685
chr12	83082454	83082679	E081	41844
chr12	83082690	83082846	E081	42080
chr12	83079312	83082294	E082	38702
chr12	83082295	83082382	E082	41685
chr12	83082454	83082679	E082	41844
chr12	83082690	83082846	E082	42080
chr12	83083192	83083515	E082	42582
chr12	83083636	83083923	E082	43026
chr12	83083956	83084174	E082	43346