rs676069

Organism: Homo sapiens

Alleles: T>C

Gene : Feature

AZIN2 : Intron Variant
TRIM62 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T==0020 (611/29976,GnomAD)
T==0025 (737/29118,TOPMED)
T==0025 (124/5008,1000G)
T==0004 (15/3854,ALSPAC)
T==0005 (18/3708,TWINSUK)

Position: chr1:33156476 (GRCh38.p7) (1p35.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 326 Enhancers around

Promoter: 27 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.33156476T>C
GRCh37.p13 chr 1	NC_000001.10:g.33622077T>C

Gene: TRIM62, tripartite motif containing 62(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TRIM62 transcript variant 1	NM_018207.2:c.	N/A	Intron Variant
TRIM62 transcript variant X3	XM_011541705.2:c.	N/A	Intron Variant
TRIM62 transcript variant X1	XM_017001629.1:c.	N/A	Intron Variant
TRIM62 transcript variant X2	XM_017001630.1:c.	N/A	Intron Variant
TRIM62 transcript variant X3	XM_017001631.1:c.	N/A	Genic Downstream Transcript Variant

Gene: AZIN2, antizyme inhibitor 2(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
AZIN2 transcript variant 2	NM_001293562.1:c.	N/A	Genic Downstream Transcript Variant
AZIN2 transcript variant 3	NM_001301823.1:c.	N/A	Genic Downstream Transcript Variant
AZIN2 transcript variant 4	NM_001301824.1:c.	N/A	Genic Downstream Transcript Variant
AZIN2 transcript variant 5	NM_001301825.1:c.	N/A	Genic Downstream Transcript Variant
AZIN2 transcript variant 6	NM_001301826.1:c.	N/A	Genic Downstream Transcript Variant
AZIN2 transcript variant 1	NM_052998.3:c.	N/A	Genic Downstream Transcript Variant
AZIN2 transcript variant 7	NR_126031.1:n.	N/A	Genic Downstream Transcript Variant
AZIN2 transcript variant X4	XM_017000167.1:c.	N/A	Intron Variant
AZIN2 transcript variant X12	XM_017000174.1:c.	N/A	Intron Variant
AZIN2 transcript variant X5	XM_005270404.2:c.	N/A	Genic Downstream Transcript Variant
AZIN2 transcript variant X2	XM_005270406.1:c.	N/A	Genic Downstream Transcript Variant
AZIN2 transcript variant X12	XM_005270407.1:c.	N/A	Genic Downstream Transcript Variant
AZIN2 transcript variant X18	XM_006710312.1:c.	N/A	Genic Downstream Transcript Variant
AZIN2 transcript variant X1	XM_011540557.1:c.	N/A	Genic Downstream Transcript Variant
AZIN2 transcript variant X11	XM_011540563.1:c.	N/A	Genic Downstream Transcript Variant
AZIN2 transcript variant X13	XM_011540566.1:c.	N/A	Genic Downstream Transcript Variant
AZIN2 transcript variant X6	XM_017000168.1:c.	N/A	Genic Downstream Transcript Variant
AZIN2 transcript variant X7	XM_017000169.1:c.	N/A	Genic Downstream Transcript Variant
AZIN2 transcript variant X8	XM_017000170.1:c.	N/A	Genic Downstream Transcript Variant
AZIN2 transcript variant X7	XM_017000171.1:c.	N/A	Genic Downstream Transcript Variant
AZIN2 transcript variant X10	XM_017000172.1:c.	N/A	Genic Downstream Transcript Variant
AZIN2 transcript variant X11	XM_017000173.1:c.	N/A	Genic Downstream Transcript Variant
AZIN2 transcript variant X14	XM_017000175.1:c.	N/A	Genic Downstream Transcript Variant
AZIN2 transcript variant X15	XM_017000176.1:c.	N/A	Genic Downstream Transcript Variant
AZIN2 transcript variant X18	XM_017000177.1:c.	N/A	Genic Downstream Transcript Variant
AZIN2 transcript variant X17	XM_017000178.1:c.	N/A	Genic Downstream Transcript Variant
AZIN2 transcript variant X21	XR_001736949.1:n.	N/A	Genic Downstream Transcript Variant
AZIN2 transcript variant X22	XR_001736950.1:n.	N/A	Genic Downstream Transcript Variant
AZIN2 transcript variant X3	XR_946531.1:n.	N/A	Genic Downstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.053	C=0.947
1000Genomes	American	Sub	694	T=0.030	C=0.970
1000Genomes	East Asian	Sub	1008	T=0.008	C=0.992
1000Genomes	Europe	Sub	1006	T=0.008	C=0.992
1000Genomes	Global	Study-wide	5008	T=0.025	C=0.975
1000Genomes	South Asian	Sub	978	T=0.020	C=0.980
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.004	C=0.996
The Genome Aggregation Database	African	Sub	8722	T=0.047	C=0.953
The Genome Aggregation Database	American	Sub	838	T=0.020	C=0.980
The Genome Aggregation Database	East Asian	Sub	1622	T=0.003	C=0.997
The Genome Aggregation Database	Europe	Sub	18492	T=0.009	C=0.990
The Genome Aggregation Database	Global	Study-wide	29976	T=0.020	C=0.979
The Genome Aggregation Database	Other	Sub	302	T=0.020	C=0.980
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.025	C=0.974
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.005	C=0.995

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
rs676069	0.00071	alcohol dependence	21314694

eQTL of rs676069 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 rs676069 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 )
chr1	33593834	33594306	E067	-27771
chr1	33594394	33594484	E067	-27593
chr1	33594494	33594737	E067	-27340
chr1	33616799	33616852	E067	-5225
chr1	33616877	33617076	E067	-5001
chr1	33617285	33617648	E067	-4429
chr1	33617742	33617851	E067	-4226
chr1	33618334	33619084	E067	-2993
chr1	33619089	33619135	E067	-2942
chr1	33619255	33619334	E067	-2743
chr1	33619455	33619564	E067	-2513
chr1	33621647	33621876	E067	-201
chr1	33621891	33621987	E067	-90
chr1	33626513	33626700	E067	4436
chr1	33626747	33627380	E067	4670
chr1	33627417	33627467	E067	5340
chr1	33634178	33634596	E067	12101
chr1	33634873	33635115	E067	12796
chr1	33635127	33635177	E067	13050
chr1	33635219	33635272	E067	13142
chr1	33635353	33635403	E067	13276
chr1	33635421	33635589	E067	13344
chr1	33636083	33636186	E067	14006
chr1	33636301	33636355	E067	14224
chr1	33636612	33636814	E067	14535
chr1	33638086	33638217	E067	16009
chr1	33638950	33639000	E067	16873
chr1	33639050	33639271	E067	16973
chr1	33641671	33642620	E067	19594
chr1	33642945	33643130	E067	20868
chr1	33643183	33643316	E067	21106
chr1	33648619	33648818	E067	26542
chr1	33648923	33648986	E067	26846
chr1	33649047	33649097	E067	26970
chr1	33649106	33649153	E067	27029
chr1	33649318	33649397	E067	27241
chr1	33649480	33649556	E067	27403
chr1	33593834	33594306	E068	-27771
chr1	33594394	33594484	E068	-27593
chr1	33594494	33594737	E068	-27340
chr1	33594820	33594925	E068	-27152
chr1	33594953	33595023	E068	-27054
chr1	33595999	33596226	E068	-25851
chr1	33615998	33616044	E068	-6033
chr1	33616187	33616227	E068	-5850
chr1	33616315	33616355	E068	-5722
chr1	33616799	33616852	E068	-5225
chr1	33616877	33617076	E068	-5001
chr1	33617285	33617648	E068	-4429
chr1	33617742	33617851	E068	-4226
chr1	33618334	33619084	E068	-2993
chr1	33619089	33619135	E068	-2942
chr1	33619255	33619334	E068	-2743
chr1	33619455	33619564	E068	-2513
chr1	33621647	33621876	E068	-201
chr1	33621891	33621987	E068	-90
chr1	33627417	33627467	E068	5340
chr1	33634873	33635115	E068	12796
chr1	33635127	33635177	E068	13050
chr1	33635219	33635272	E068	13142
chr1	33635353	33635403	E068	13276
chr1	33635421	33635589	E068	13344
chr1	33636083	33636186	E068	14006
chr1	33636301	33636355	E068	14224
chr1	33636612	33636814	E068	14535
chr1	33637284	33637334	E068	15207
chr1	33637952	33638069	E068	15875
chr1	33638086	33638217	E068	16009
chr1	33638950	33639000	E068	16873
chr1	33641671	33642620	E068	19594
chr1	33645641	33645691	E068	23564
chr1	33645707	33645928	E068	23630
chr1	33649480	33649556	E068	27403
chr1	33593834	33594306	E069	-27771
chr1	33594394	33594484	E069	-27593
chr1	33594494	33594737	E069	-27340
chr1	33594820	33594925	E069	-27152
chr1	33594953	33595023	E069	-27054
chr1	33603838	33603878	E069	-18199
chr1	33607061	33607149	E069	-14928
chr1	33616187	33616227	E069	-5850
chr1	33616315	33616355	E069	-5722
chr1	33616799	33616852	E069	-5225
chr1	33616877	33617076	E069	-5001
chr1	33617285	33617648	E069	-4429
chr1	33617742	33617851	E069	-4226
chr1	33618334	33619084	E069	-2993
chr1	33619089	33619135	E069	-2942
chr1	33619255	33619334	E069	-2743
chr1	33619455	33619564	E069	-2513
chr1	33620957	33621039	E069	-1038
chr1	33621054	33621133	E069	-944
chr1	33621647	33621876	E069	-201
chr1	33621891	33621987	E069	-90
chr1	33622253	33622368	E069	176
chr1	33627417	33627467	E069	5340
chr1	33627630	33627686	E069	5553
chr1	33627692	33627772	E069	5615
chr1	33634178	33634596	E069	12101
chr1	33634873	33635115	E069	12796
chr1	33635127	33635177	E069	13050
chr1	33635219	33635272	E069	13142
chr1	33635353	33635403	E069	13276
chr1	33635421	33635589	E069	13344
chr1	33636083	33636186	E069	14006
chr1	33636301	33636355	E069	14224
chr1	33636612	33636814	E069	14535
chr1	33637284	33637334	E069	15207
chr1	33637952	33638069	E069	15875
chr1	33638086	33638217	E069	16009
chr1	33638950	33639000	E069	16873
chr1	33639050	33639271	E069	16973
chr1	33641671	33642620	E069	19594
chr1	33642945	33643130	E069	20868
chr1	33644293	33644347	E069	22216
chr1	33644543	33644678	E069	22466
chr1	33645641	33645691	E069	23564
chr1	33648619	33648818	E069	26542
chr1	33648923	33648986	E069	26846
chr1	33649047	33649097	E069	26970
chr1	33649106	33649153	E069	27029
chr1	33649318	33649397	E069	27241
chr1	33649480	33649556	E069	27403
chr1	33603357	33603777	E070	-18300
chr1	33616799	33616852	E070	-5225
chr1	33616877	33617076	E070	-5001
chr1	33617285	33617648	E070	-4429
chr1	33627630	33627686	E070	5553
chr1	33627692	33627772	E070	5615
chr1	33627983	33628027	E070	5906
chr1	33634873	33635115	E070	12796
chr1	33635127	33635177	E070	13050
chr1	33635219	33635272	E070	13142
chr1	33635353	33635403	E070	13276
chr1	33635421	33635589	E070	13344
chr1	33645641	33645691	E070	23564
chr1	33648619	33648818	E070	26542
chr1	33648923	33648986	E070	26846
chr1	33649047	33649097	E070	26970
chr1	33649106	33649153	E070	27029
chr1	33649318	33649397	E070	27241
chr1	33649480	33649556	E070	27403
chr1	33651196	33651362	E070	29119
chr1	33651769	33651823	E070	29692
chr1	33651916	33651978	E070	29839
chr1	33593834	33594306	E071	-27771
chr1	33594394	33594484	E071	-27593
chr1	33594494	33594737	E071	-27340
chr1	33594820	33594925	E071	-27152
chr1	33594953	33595023	E071	-27054
chr1	33595223	33595273	E071	-26804
chr1	33595999	33596226	E071	-25851
chr1	33606117	33606628	E071	-15449
chr1	33611309	33611416	E071	-10661
chr1	33611460	33611510	E071	-10567
chr1	33611665	33611812	E071	-10265
chr1	33615998	33616044	E071	-6033
chr1	33616187	33616227	E071	-5850
chr1	33616315	33616355	E071	-5722
chr1	33616799	33616852	E071	-5225
chr1	33616877	33617076	E071	-5001
chr1	33617285	33617648	E071	-4429
chr1	33617742	33617851	E071	-4226
chr1	33618334	33619084	E071	-2993
chr1	33619089	33619135	E071	-2942
chr1	33619255	33619334	E071	-2743
chr1	33619455	33619564	E071	-2513
chr1	33621054	33621133	E071	-944
chr1	33621647	33621876	E071	-201
chr1	33621891	33621987	E071	-90
chr1	33622253	33622368	E071	176
chr1	33627417	33627467	E071	5340
chr1	33633980	33634069	E071	11903
chr1	33634178	33634596	E071	12101
chr1	33635127	33635177	E071	13050
chr1	33635353	33635403	E071	13276
chr1	33635421	33635589	E071	13344
chr1	33636083	33636186	E071	14006
chr1	33636301	33636355	E071	14224
chr1	33636612	33636814	E071	14535
chr1	33637284	33637334	E071	15207
chr1	33637952	33638069	E071	15875
chr1	33638086	33638217	E071	16009
chr1	33638950	33639000	E071	16873
chr1	33641671	33642620	E071	19594
chr1	33642945	33643130	E071	20868
chr1	33643183	33643316	E071	21106
chr1	33644293	33644347	E071	22216
chr1	33644543	33644678	E071	22466
chr1	33648619	33648818	E071	26542
chr1	33648923	33648986	E071	26846
chr1	33649047	33649097	E071	26970
chr1	33649106	33649153	E071	27029
chr1	33649318	33649397	E071	27241
chr1	33649480	33649556	E071	27403
chr1	33603357	33603777	E072	-18300
chr1	33616187	33616227	E072	-5850
chr1	33616315	33616355	E072	-5722
chr1	33616799	33616852	E072	-5225
chr1	33616877	33617076	E072	-5001
chr1	33617285	33617648	E072	-4429
chr1	33617742	33617851	E072	-4226
chr1	33618334	33619084	E072	-2993
chr1	33619089	33619135	E072	-2942
chr1	33619455	33619564	E072	-2513
chr1	33621647	33621876	E072	-201
chr1	33621891	33621987	E072	-90
chr1	33622253	33622368	E072	176
chr1	33627417	33627467	E072	5340
chr1	33627630	33627686	E072	5553
chr1	33627692	33627772	E072	5615
chr1	33633253	33633492	E072	11176
chr1	33633980	33634069	E072	11903
chr1	33634178	33634596	E072	12101
chr1	33636083	33636186	E072	14006
chr1	33636301	33636355	E072	14224
chr1	33636612	33636814	E072	14535
chr1	33637284	33637334	E072	15207
chr1	33637952	33638069	E072	15875
chr1	33638086	33638217	E072	16009
chr1	33638950	33639000	E072	16873
chr1	33639050	33639271	E072	16973
chr1	33641671	33642620	E072	19594
chr1	33642945	33643130	E072	20868
chr1	33643183	33643316	E072	21106
chr1	33648619	33648818	E072	26542
chr1	33648923	33648986	E072	26846
chr1	33649047	33649097	E072	26970
chr1	33649106	33649153	E072	27029
chr1	33649318	33649397	E072	27241
chr1	33649480	33649556	E072	27403
chr1	33593834	33594306	E073	-27771
chr1	33594394	33594484	E073	-27593
chr1	33616187	33616227	E073	-5850
chr1	33616315	33616355	E073	-5722
chr1	33616799	33616852	E073	-5225
chr1	33616877	33617076	E073	-5001
chr1	33617285	33617648	E073	-4429
chr1	33617742	33617851	E073	-4226
chr1	33618334	33619084	E073	-2993
chr1	33619089	33619135	E073	-2942
chr1	33619255	33619334	E073	-2743
chr1	33619455	33619564	E073	-2513
chr1	33621647	33621876	E073	-201
chr1	33621891	33621987	E073	-90
chr1	33626513	33626700	E073	4436
chr1	33626747	33627380	E073	4670
chr1	33627417	33627467	E073	5340
chr1	33634178	33634596	E073	12101
chr1	33634873	33635115	E073	12796
chr1	33635127	33635177	E073	13050
chr1	33635219	33635272	E073	13142
chr1	33635353	33635403	E073	13276
chr1	33635421	33635589	E073	13344
chr1	33636083	33636186	E073	14006
chr1	33636301	33636355	E073	14224
chr1	33636612	33636814	E073	14535
chr1	33637284	33637334	E073	15207
chr1	33637952	33638069	E073	15875
chr1	33638086	33638217	E073	16009
chr1	33638950	33639000	E073	16873
chr1	33639050	33639271	E073	16973
chr1	33641671	33642620	E073	19594
chr1	33644293	33644347	E073	22216
chr1	33644543	33644678	E073	22466
chr1	33645641	33645691	E073	23564
chr1	33648619	33648818	E073	26542
chr1	33593834	33594306	E074	-27771
chr1	33594394	33594484	E074	-27593
chr1	33603838	33603878	E074	-18199
chr1	33616799	33616852	E074	-5225
chr1	33616877	33617076	E074	-5001
chr1	33617285	33617648	E074	-4429
chr1	33617742	33617851	E074	-4226
chr1	33618334	33619084	E074	-2993
chr1	33619089	33619135	E074	-2942
chr1	33619255	33619334	E074	-2743
chr1	33619455	33619564	E074	-2513
chr1	33621647	33621876	E074	-201
chr1	33621891	33621987	E074	-90
chr1	33622253	33622368	E074	176
chr1	33626747	33627380	E074	4670
chr1	33627417	33627467	E074	5340
chr1	33627630	33627686	E074	5553
chr1	33627692	33627772	E074	5615
chr1	33627983	33628027	E074	5906
chr1	33633980	33634069	E074	11903
chr1	33634178	33634596	E074	12101
chr1	33634873	33635115	E074	12796
chr1	33635127	33635177	E074	13050
chr1	33635219	33635272	E074	13142
chr1	33635353	33635403	E074	13276
chr1	33635421	33635589	E074	13344
chr1	33636083	33636186	E074	14006
chr1	33636301	33636355	E074	14224
chr1	33636612	33636814	E074	14535
chr1	33637284	33637334	E074	15207
chr1	33637952	33638069	E074	15875
chr1	33638086	33638217	E074	16009
chr1	33638950	33639000	E074	16873
chr1	33639050	33639271	E074	16973
chr1	33641671	33642620	E074	19594
chr1	33642945	33643130	E074	20868
chr1	33643183	33643316	E074	21106
chr1	33644293	33644347	E074	22216
chr1	33644543	33644678	E074	22466
chr1	33645641	33645691	E074	23564
chr1	33645707	33645928	E074	23630
chr1	33649480	33649556	E074	27403
chr1	33593834	33594306	E081	-27771
chr1	33594394	33594484	E081	-27593
chr1	33594494	33594737	E081	-27340
chr1	33603357	33603777	E081	-18300
chr1	33626513	33626700	E081	4436
chr1	33626747	33627380	E081	4670
chr1	33641671	33642620	E081	19594
chr1	33645707	33645928	E081	23630
chr1	33648619	33648818	E081	26542
chr1	33593834	33594306	E082	-27771
chr1	33594394	33594484	E082	-27593
chr1	33594494	33594737	E082	-27340
chr1	33594820	33594925	E082	-27152
chr1	33594953	33595023	E082	-27054
chr1	33595223	33595273	E082	-26804
chr1	33595999	33596226	E082	-25851
chr1	33656447	33656530	E082	34370

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	33592241	33592401	E067	-29676
chr1	33592412	33593798	E067	-28279
chr1	33646109	33648529	E067	24032
chr1	33592241	33592401	E068	-29676
chr1	33592412	33593798	E068	-28279
chr1	33646109	33648529	E068	24032
chr1	33592241	33592401	E069	-29676
chr1	33592412	33593798	E069	-28279
chr1	33646109	33648529	E069	24032
chr1	33592241	33592401	E070	-29676
chr1	33592412	33593798	E070	-28279
chr1	33646109	33648529	E070	24032
chr1	33592241	33592401	E071	-29676
chr1	33592412	33593798	E071	-28279
chr1	33646109	33648529	E071	24032
chr1	33592241	33592401	E072	-29676
chr1	33592412	33593798	E072	-28279
chr1	33646109	33648529	E072	24032
chr1	33592241	33592401	E073	-29676
chr1	33592412	33593798	E073	-28279
chr1	33646109	33648529	E073	24032
chr1	33592241	33592401	E074	-29676
chr1	33592412	33593798	E074	-28279
chr1	33646109	33648529	E074	24032
chr1	33592241	33592401	E082	-29676
chr1	33592412	33593798	E082	-28279
chr1	33646109	33648529	E082	24032