SNP Detail Info-rs2306559

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 5	NC_000005.10:g.169702418A>G
GRCh37.p13 chr 5	NC_000005.9:g.169129422A>G

Gene: DOCK2, dedicator of cytokinesis 2(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DOCK2 transcript	NM_004946.2:c.137...NM_004946.2:c.1374A>G	K [AAA]> K [AAG]	Coding Sequence Variant
dedicator of cytokinesis protein 2	NP_004937.1:p.Lys...NP_004937.1:p.Lys458=	K [Lys]> K [Lys]	Synonymous Variant
DOCK2 transcript variant X1	XM_017009189.1:c....XM_017009189.1:c.1374A>G	K [AAA]> K [AAG]	Coding Sequence Variant
dedicator of cytokinesis protein 2 isoform X1	XP_016864678.1:p....XP_016864678.1:p.Lys458=	K [Lys]> K [Lys]	Synonymous Variant
DOCK2 transcript variant X2	XM_011534448.2:c....XM_011534448.2:c.1374A>G	K [AAA]> K [AAG]	Coding Sequence Variant
dedicator of cytokinesis protein 2 isoform X2	XP_011532750.1:p....XP_011532750.1:p.Lys458=	K [Lys]> K [Lys]	Synonymous Variant
DOCK2 transcript variant X3	XM_011534449.2:c....XM_011534449.2:c.1374A>G	K [AAA]> K [AAG]	Coding Sequence Variant
dedicator of cytokinesis protein 2 isoform X3	XP_011532751.1:p....XP_011532751.1:p.Lys458=	K [Lys]> K [Lys]	Synonymous Variant
DOCK2 transcript variant X4	XM_011534450.2:c....XM_011534450.2:c.1374A>G	K [AAA]> K [AAG]	Coding Sequence Variant
dedicator of cytokinesis protein 2 isoform X4	XP_011532752.1:p....XP_011532752.1:p.Lys458=	K [Lys]> K [Lys]	Synonymous Variant
DOCK2 transcript variant X5	XM_017009190.1:c....XM_017009190.1:c.1374A>G	K [AAA]> K [AAG]	Coding Sequence Variant
dedicator of cytokinesis protein 2 isoform X5	XP_016864679.1:p....XP_016864679.1:p.Lys458=	K [Lys]> K [Lys]	Synonymous Variant
DOCK2 transcript variant X6	XM_011534451.2:c....XM_011534451.2:c.1374A>G	K [AAA]> K [AAG]	Coding Sequence Variant
dedicator of cytokinesis protein 2 isoform X6	XP_011532753.1:p....XP_011532753.1:p.Lys458=	K [Lys]> K [Lys]	Synonymous Variant
DOCK2 transcript variant X7	XM_005265830.3:c....XM_005265830.3:c.1374A>G	K [AAA]> K [AAG]	Coding Sequence Variant
dedicator of cytokinesis protein 2 isoform X7	XP_005265887.1:p....XP_005265887.1:p.Lys458=	K [Lys]> K [Lys]	Synonymous Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.802	G=0.198
1000Genomes	American	Sub	694	A=0.670	G=0.330
1000Genomes	East Asian	Sub	1008	A=0.318	G=0.682
1000Genomes	Europe	Sub	1006	A=0.553	G=0.447
1000Genomes	Global	Study-wide	5008	A=0.615	G=0.385
1000Genomes	South Asian	Sub	978	A=0.690	G=0.310
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.540	G=0.460
The Exome Aggregation Consortium	American	Sub	21974	A=0.763	G=0.236
The Exome Aggregation Consortium	Asian	Sub	25078	A=0.551	G=0.448
The Exome Aggregation Consortium	Europe	Sub	73304	A=0.556	G=0.443
The Exome Aggregation Consortium	Global	Study-wide	121264	A=0.593	G=0.406
The Exome Aggregation Consortium	Other	Sub	908	A=0.600	G=0.400
The Genome Aggregation Database	African	Sub	8704	A=0.767	G=0.233
The Genome Aggregation Database	American	Sub	832	A=0.700	G=0.300
The Genome Aggregation Database	East Asian	Sub	1606	A=0.286	G=0.714
The Genome Aggregation Database	Europe	Sub	18444	A=0.561	G=0.438
The Genome Aggregation Database	Global	Study-wide	29886	A=0.610	G=0.389
The Genome Aggregation Database	Other	Sub	300	A=0.560	G=0.440
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.650	G=0.349
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.539	G=0.461

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
rs2306559	0.000934	alcohol dependence	20201924

eQTL of rs2306559 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 rs2306559 in Fetal Brain

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

Enhancer Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr5	169137192	169138207	E068	7770
chr5	169138321	169138412	E068	8899
chr5	169137192	169138207	E069	7770
chr5	169138321	169138412	E069	8899
chr5	169095351	169095677	E070	-33745
chr5	169095801	169096062	E070	-33360
chr5	169137192	169138207	E071	7770
chr5	169138321	169138412	E071	8899
chr5	169120242	169120433	E072	-8989
chr5	169129224	169129330	E072	-92
chr5	169137192	169138207	E072	7770
chr5	169138321	169138412	E072	8899
chr5	169120242	169120433	E074	-8989
chr5	169128943	169129143	E074	-279
chr5	169129224	169129330	E074	-92
chr5	169129349	169129683	E074	0
chr5	169137192	169138207	E074	7770
chr5	169138560	169138624	E074	9138
chr5	169138681	169138916	E074	9259
chr5	169138963	169139069	E074	9541
chr5	169120242	169120433	E081	-8989
chr5	169120862	169120902	E081	-8520
chr5	169121154	169121511	E081	-7911
chr5	169128943	169129143	E081	-279
chr5	169129224	169129330	E081	-92
chr5	169129349	169129683	E081	0
chr5	169129224	169129330	E082	-92
chr5	169129349	169129683	E082	0
chr5	169169737	169170321	E082	40315

rs2306559

Genomic Coordinates

Gene: DOCK2, dedicator of cytokinesis 2(plus strand)

Population Frequency

P-Value

eQTL of rs2306559 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs2306559 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)