rs6533710

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

CAMK2D : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0371 (11087/29838,GnomAD)
G=0409 (11931/29118,TOPMED)
G=0423 (2118/5008,1000G)
G=0347 (1339/3854,ALSPAC)
G=0327 (1211/3708,TWINSUK)

Position: chr4:113668110 (GRCh38.p7) (4q26)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 158 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 4	NC_000004.12:g.113668110A>G
GRCh37.p13 chr 4	NC_000004.11:g.114589266A>G

Gene: CAMK2D, calcium/calmodulin dependent protein kinase II delta(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CAMK2D transcript variant 3	NM_001221.3:c.	N/A	Intron Variant
CAMK2D transcript variant 7	NM_001321566.1:c.	N/A	Intron Variant
CAMK2D transcript variant 8	NM_001321567.1:c.	N/A	Intron Variant
CAMK2D transcript variant 9	NM_001321568.1:c.	N/A	Intron Variant
CAMK2D transcript variant 10	NM_001321569.1:c.	N/A	Intron Variant
CAMK2D transcript variant 11	NM_001321570.1:c.	N/A	Intron Variant
CAMK2D transcript variant 12	NM_001321571.1:c.	N/A	Intron Variant
CAMK2D transcript variant 13	NM_001321572.1:c.	N/A	Intron Variant
CAMK2D transcript variant 14	NM_001321573.1:c.	N/A	Intron Variant
CAMK2D transcript variant 15	NM_001321574.1:c.	N/A	Intron Variant
CAMK2D transcript variant 16	NM_001321575.1:c.	N/A	Intron Variant
CAMK2D transcript variant 17	NM_001321576.1:c.	N/A	Intron Variant
CAMK2D transcript variant 18	NM_001321577.1:c.	N/A	Intron Variant
CAMK2D transcript variant 19	NM_001321578.1:c.	N/A	Intron Variant
CAMK2D transcript variant 20	NM_001321579.1:c.	N/A	Intron Variant
CAMK2D transcript variant 21	NM_001321580.1:c.	N/A	Intron Variant
CAMK2D transcript variant 22	NM_001321581.1:c.	N/A	Intron Variant
CAMK2D transcript variant 23	NM_001321582.1:c.	N/A	Intron Variant
CAMK2D transcript variant 24	NM_001321583.1:c.	N/A	Intron Variant
CAMK2D transcript variant 25	NM_001321584.1:c.	N/A	Intron Variant
CAMK2D transcript variant 26	NM_001321585.1:c.	N/A	Intron Variant
CAMK2D transcript variant 27	NM_001321586.1:c.	N/A	Intron Variant
CAMK2D transcript variant 28	NM_001321587.1:c.	N/A	Intron Variant
CAMK2D transcript variant 29	NM_001321588.1:c.	N/A	Intron Variant
CAMK2D transcript variant 30	NM_001321589.1:c.	N/A	Intron Variant
CAMK2D transcript variant 31	NM_001321590.1:c.	N/A	Intron Variant
CAMK2D transcript variant 32	NM_001321591.1:c.	N/A	Intron Variant
CAMK2D transcript variant 6	NM_172114.1:c.	N/A	Intron Variant
CAMK2D transcript variant 4	NM_172115.2:c.	N/A	Intron Variant
CAMK2D transcript variant 1	NM_172127.2:c.	N/A	Intron Variant
CAMK2D transcript variant 2	NM_172128.2:c.	N/A	Intron Variant
CAMK2D transcript variant 5	NM_172129.1:c.	N/A	Intron Variant
CAMK2D transcript variant 33	NM_001321592.1:c.	N/A	Genic Downstream Transcript Variant
CAMK2D transcript variant X1	XM_005263253.3:c.	N/A	Intron Variant
CAMK2D transcript variant X2	XM_005263254.3:c.	N/A	Intron Variant
CAMK2D transcript variant X13	XM_006714330.2:c.	N/A	Intron Variant
CAMK2D transcript variant X6	XM_011532289.1:c.	N/A	Intron Variant
CAMK2D transcript variant X8	XM_011532290.1:c.	N/A	Intron Variant
CAMK2D transcript variant X12	XM_011532291.1:c.	N/A	Intron Variant
CAMK2D transcript variant X7	XM_011532295.1:c.	N/A	Intron Variant
CAMK2D transcript variant X3	XM_017008672.1:c.	N/A	Intron Variant
CAMK2D transcript variant X4	XM_017008673.1:c.	N/A	Intron Variant
CAMK2D transcript variant X5	XM_017008674.1:c.	N/A	Intron Variant
CAMK2D transcript variant X9	XM_017008675.1:c.	N/A	Intron Variant
CAMK2D transcript variant X10	XM_017008676.1:c.	N/A	Intron Variant
CAMK2D transcript variant X11	XM_017008677.1:c.	N/A	Intron Variant
CAMK2D transcript variant X14	XM_017008678.1:c.	N/A	Intron Variant
CAMK2D transcript variant X15	XM_011532292.2:c.	N/A	Genic Upstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.527	G=0.473
1000Genomes	American	Sub	694	A=0.580	G=0.420
1000Genomes	East Asian	Sub	1008	A=0.606	G=0.394
1000Genomes	Europe	Sub	1006	A=0.674	G=0.326
1000Genomes	Global	Study-wide	5008	A=0.577	G=0.423
1000Genomes	South Asian	Sub	978	A=0.510	G=0.490
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.653	G=0.347
The Genome Aggregation Database	African	Sub	8694	A=0.548	G=0.452
The Genome Aggregation Database	American	Sub	836	A=0.600	G=0.400
The Genome Aggregation Database	East Asian	Sub	1606	A=0.585	G=0.415
The Genome Aggregation Database	Europe	Sub	18400	A=0.670	G=0.329
The Genome Aggregation Database	Global	Study-wide	29838	A=0.628	G=0.371
The Genome Aggregation Database	Other	Sub	302	A=0.680	G=0.320
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.590	G=0.409
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.673	G=0.327

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

P-Value

SNP ID	p-value	Traits	Study
rs6533710	0.00062	alcohol dependence	20201924

eQTL of rs6533710 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 rs6533710 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 )
chr4	114554464	114554987	E067	-34279
chr4	114555165	114555557	E067	-33709
chr4	114557003	114558388	E067	-30878
chr4	114558592	114558806	E067	-30460
chr4	114559108	114559280	E067	-29986
chr4	114559301	114559493	E067	-29773
chr4	114560610	114560959	E067	-28307
chr4	114561028	114561528	E067	-27738
chr4	114561781	114561831	E067	-27435
chr4	114561944	114562177	E067	-27089
chr4	114566910	114567999	E067	-21267
chr4	114577954	114578004	E067	-11262
chr4	114578063	114578136	E067	-11130
chr4	114578150	114578295	E067	-10971
chr4	114578514	114578597	E067	-10669
chr4	114595612	114595677	E067	6346
chr4	114595855	114595934	E067	6589
chr4	114596050	114596156	E067	6784
chr4	114605251	114605322	E067	15985
chr4	114605364	114605465	E067	16098
chr4	114605647	114606287	E067	16381
chr4	114621932	114621988	E067	32666
chr4	114554464	114554987	E068	-34279
chr4	114555165	114555557	E068	-33709
chr4	114555622	114555756	E068	-33510
chr4	114557003	114558388	E068	-30878
chr4	114558592	114558806	E068	-30460
chr4	114559108	114559280	E068	-29986
chr4	114559301	114559493	E068	-29773
chr4	114559711	114559911	E068	-29355
chr4	114560610	114560959	E068	-28307
chr4	114561028	114561528	E068	-27738
chr4	114566910	114567999	E068	-21267
chr4	114578864	114579018	E068	-10248
chr4	114579101	114579299	E068	-9967
chr4	114579351	114579423	E068	-9843
chr4	114594217	114594310	E068	4951
chr4	114594707	114594941	E068	5441
chr4	114594990	114595074	E068	5724
chr4	114595612	114595677	E068	6346
chr4	114595855	114595934	E068	6589
chr4	114597275	114597390	E068	8009
chr4	114597399	114597501	E068	8133
chr4	114597558	114597698	E068	8292
chr4	114603943	114604791	E068	14677
chr4	114604836	114604909	E068	15570
chr4	114604985	114605025	E068	15719
chr4	114605251	114605322	E068	15985
chr4	114605364	114605465	E068	16098
chr4	114605647	114606287	E068	16381
chr4	114621932	114621988	E068	32666
chr4	114558592	114558806	E069	-30460
chr4	114559108	114559280	E069	-29986
chr4	114559301	114559493	E069	-29773
chr4	114577954	114578004	E069	-11262
chr4	114578063	114578136	E069	-11130
chr4	114578150	114578295	E069	-10971
chr4	114578514	114578597	E069	-10669
chr4	114578864	114579018	E069	-10248
chr4	114579101	114579299	E069	-9967
chr4	114579351	114579423	E069	-9843
chr4	114595612	114595677	E069	6346
chr4	114595855	114595934	E069	6589
chr4	114597882	114598010	E069	8616
chr4	114598086	114598198	E069	8820
chr4	114598545	114598787	E069	9279
chr4	114605647	114606287	E069	16381
chr4	114621932	114621988	E069	32666
chr4	114554464	114554987	E070	-34279
chr4	114560610	114560959	E070	-28307
chr4	114561944	114562177	E070	-27089
chr4	114540598	114541042	E071	-48224
chr4	114541091	114541221	E071	-48045
chr4	114554258	114554308	E071	-34958
chr4	114554464	114554987	E071	-34279
chr4	114555165	114555557	E071	-33709
chr4	114556644	114556875	E071	-32391
chr4	114557003	114558388	E071	-30878
chr4	114559108	114559280	E071	-29986
chr4	114559301	114559493	E071	-29773
chr4	114559711	114559911	E071	-29355
chr4	114560610	114560959	E071	-28307
chr4	114561028	114561528	E071	-27738
chr4	114566736	114566893	E071	-22373
chr4	114566910	114567999	E071	-21267
chr4	114577630	114577724	E071	-11542
chr4	114577954	114578004	E071	-11262
chr4	114578063	114578136	E071	-11130
chr4	114578150	114578295	E071	-10971
chr4	114578514	114578597	E071	-10669
chr4	114578864	114579018	E071	-10248
chr4	114579101	114579299	E071	-9967
chr4	114579351	114579423	E071	-9843
chr4	114594707	114594941	E071	5441
chr4	114594990	114595074	E071	5724
chr4	114595612	114595677	E071	6346
chr4	114595855	114595934	E071	6589
chr4	114596050	114596156	E071	6784
chr4	114597558	114597698	E071	8292
chr4	114597745	114597839	E071	8479
chr4	114597882	114598010	E071	8616
chr4	114598086	114598198	E071	8820
chr4	114598545	114598787	E071	9279
chr4	114605364	114605465	E071	16098
chr4	114605647	114606287	E071	16381
chr4	114621932	114621988	E071	32666
chr4	114560610	114560959	E072	-28307
chr4	114578150	114578295	E072	-10971
chr4	114578514	114578597	E072	-10669
chr4	114578864	114579018	E072	-10248
chr4	114579101	114579299	E072	-9967
chr4	114579351	114579423	E072	-9843
chr4	114579531	114579697	E072	-9569
chr4	114594707	114594941	E072	5441
chr4	114594990	114595074	E072	5724
chr4	114595612	114595677	E072	6346
chr4	114595855	114595934	E072	6589
chr4	114596050	114596156	E072	6784
chr4	114598545	114598787	E072	9279
chr4	114605364	114605465	E072	16098
chr4	114605647	114606287	E072	16381
chr4	114554464	114554987	E073	-34279
chr4	114560610	114560959	E073	-28307
chr4	114594217	114594310	E073	4951
chr4	114594707	114594941	E073	5441
chr4	114595855	114595934	E073	6589
chr4	114603943	114604791	E073	14677
chr4	114604836	114604909	E073	15570
chr4	114604985	114605025	E073	15719
chr4	114605251	114605322	E073	15985
chr4	114605364	114605465	E073	16098
chr4	114605647	114606287	E073	16381
chr4	114554258	114554308	E074	-34958
chr4	114554464	114554987	E074	-34279
chr4	114555165	114555557	E074	-33709
chr4	114557003	114558388	E074	-30878
chr4	114558592	114558806	E074	-30460
chr4	114559108	114559280	E074	-29986
chr4	114559301	114559493	E074	-29773
chr4	114559711	114559911	E074	-29355
chr4	114560610	114560959	E074	-28307
chr4	114561028	114561528	E074	-27738
chr4	114578864	114579018	E074	-10248
chr4	114579101	114579299	E074	-9967
chr4	114579351	114579423	E074	-9843
chr4	114579531	114579697	E074	-9569
chr4	114594217	114594310	E074	4951
chr4	114594707	114594941	E074	5441
chr4	114594990	114595074	E074	5724
chr4	114595612	114595677	E074	6346
chr4	114595855	114595934	E074	6589
chr4	114597882	114598010	E074	8616
chr4	114598086	114598198	E074	8820
chr4	114604985	114605025	E074	15719
chr4	114605251	114605322	E074	15985
chr4	114605364	114605465	E074	16098
chr4	114605647	114606287	E074	16381
chr4	114621932	114621988	E074	32666