rs698705

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

SLC8A2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0113 (3392/29948,GnomAD)
G=0105 (3063/29118,TOPMED)
G=0089 (447/5008,1000G)
G=0115 (443/3854,ALSPAC)
G=0124 (458/3708,TWINSUK)

Position: chr19:47434209 (GRCh38.p7) (19q13.32)

Phenotype: OD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 71 Enhancers around

Promoter: 33 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 19	NC_000019.10:g.47434209A>G
GRCh37.p13 chr 19	NC_000019.9:g.47937466A>G

Gene: SLC8A2, solute carrier family 8 member A2(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SLC8A2 transcript	NM_015063.2:c.	N/A	Intron Variant
SLC8A2 transcript variant X1	XM_005259172.1:c.	N/A	Intron Variant
SLC8A2 transcript variant X2	XM_017027159.1:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.918	G=0.082
1000Genomes	American	Sub	694	A=0.930	G=0.070
1000Genomes	East Asian	Sub	1008	A=0.877	G=0.123
1000Genomes	Europe	Sub	1006	A=0.875	G=0.125
1000Genomes	Global	Study-wide	5008	A=0.911	G=0.089
1000Genomes	South Asian	Sub	978	A=0.960	G=0.040
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.885	G=0.115
The Genome Aggregation Database	African	Sub	8714	A=0.918	G=0.082
The Genome Aggregation Database	American	Sub	838	A=0.920	G=0.080
The Genome Aggregation Database	East Asian	Sub	1622	A=0.853	G=0.147
The Genome Aggregation Database	Europe	Sub	18472	A=0.873	G=0.126
The Genome Aggregation Database	Global	Study-wide	29948	A=0.886	G=0.113
The Genome Aggregation Database	Other	Sub	302	A=0.840	G=0.160
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.894	G=0.105
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.876	G=0.124

PMID	Title	Author	Journal
23183491	Genome-wide association study identifies a potent locus associated with human opioid sensitivity.	Nishizawa D	Mol Psychiatry

P-Value

SNP ID	p-value	Traits	Study
rs698705	3.67E-05	Opioid sensitivity	23183491

eQTL of rs698705 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 rs698705 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 )
chr19	47939773	47940334	E067	2307
chr19	47986419	47986555	E067	48953
chr19	47986598	47986685	E067	49132
chr19	47894548	47895193	E068	-42273
chr19	47939773	47940334	E068	2307
chr19	47946430	47946569	E068	8964
chr19	47889171	47889401	E069	-48065
chr19	47894548	47895193	E069	-42273
chr19	47939773	47940334	E069	2307
chr19	47894548	47895193	E070	-42273
chr19	47902007	47902226	E070	-35240
chr19	47902316	47902891	E070	-34575
chr19	47926110	47926185	E070	-11281
chr19	47929767	47929877	E070	-7589
chr19	47929891	47930061	E070	-7405
chr19	47930104	47930269	E070	-7197
chr19	47930297	47930360	E070	-7106
chr19	47936418	47936628	E070	-838
chr19	47940404	47940482	E070	2938
chr19	47952275	47952475	E070	14809
chr19	47971155	47971560	E070	33689
chr19	47971741	47972624	E070	34275
chr19	47888984	47889128	E071	-48338
chr19	47889171	47889401	E071	-48065
chr19	47894548	47895193	E071	-42273
chr19	47939520	47939769	E071	2054
chr19	47939773	47940334	E071	2307
chr19	47952275	47952475	E071	14809
chr19	47986598	47986685	E071	49132
chr19	47939773	47940334	E072	2307
chr19	47940404	47940482	E072	2938
chr19	47962777	47962909	E072	25311
chr19	47963153	47963210	E072	25687
chr19	47976031	47976124	E072	38565
chr19	47976215	47976332	E072	38749
chr19	47976382	47976432	E072	38916
chr19	47986419	47986555	E072	48953
chr19	47986598	47986685	E072	49132
chr19	47894548	47895193	E073	-42273
chr19	47939773	47940334	E073	2307
chr19	47952275	47952475	E073	14809
chr19	47952867	47952976	E073	15401
chr19	47952979	47953034	E073	15513
chr19	47962777	47962909	E073	25311
chr19	47986598	47986685	E073	49132
chr19	47888984	47889128	E074	-48338
chr19	47889171	47889401	E074	-48065
chr19	47894548	47895193	E074	-42273
chr19	47894548	47895193	E081	-42273
chr19	47919753	47919811	E081	-17655
chr19	47919820	47919901	E081	-17565
chr19	47939773	47940334	E081	2307
chr19	47940404	47940482	E081	2938
chr19	47962777	47962909	E081	25311
chr19	47967917	47968621	E081	30451
chr19	47969905	47969959	E081	32439
chr19	47971155	47971560	E081	33689
chr19	47971741	47972624	E081	34275
chr19	47972634	47973248	E081	35168
chr19	47973295	47973487	E081	35829
chr19	47973526	47973613	E081	36060
chr19	47986419	47986555	E081	48953
chr19	47986598	47986685	E081	49132
chr19	47919753	47919811	E082	-17655
chr19	47919820	47919901	E082	-17565
chr19	47926110	47926185	E082	-11281
chr19	47939773	47940334	E082	2307
chr19	47962777	47962909	E082	25311
chr19	47963153	47963210	E082	25687
chr19	47969905	47969959	E082	32439
chr19	47971155	47971560	E082	33689

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	47920761	47922487	E067	-14979
chr19	47973687	47974058	E067	36221
chr19	47974077	47974149	E067	36611
chr19	47974249	47974420	E067	36783
chr19	47974465	47974653	E067	36999
chr19	47973687	47974058	E068	36221
chr19	47974077	47974149	E068	36611
chr19	47974249	47974420	E068	36783
chr19	47974465	47974653	E068	36999
chr19	47920761	47922487	E069	-14979
chr19	47973687	47974058	E069	36221
chr19	47974077	47974149	E069	36611
chr19	47974249	47974420	E069	36783
chr19	47974465	47974653	E069	36999
chr19	47920761	47922487	E070	-14979
chr19	47922513	47923056	E070	-14410
chr19	47920761	47922487	E071	-14979
chr19	47973687	47974058	E071	36221
chr19	47974077	47974149	E071	36611
chr19	47974249	47974420	E071	36783
chr19	47974465	47974653	E071	36999
chr19	47920761	47922487	E072	-14979
chr19	47973687	47974058	E072	36221
chr19	47974077	47974149	E072	36611
chr19	47974249	47974420	E072	36783
chr19	47974465	47974653	E072	36999
chr19	47973687	47974058	E073	36221
chr19	47974077	47974149	E073	36611
chr19	47974249	47974420	E073	36783
chr19	47974465	47974653	E073	36999
chr19	47920761	47922487	E081	-14979
chr19	47920761	47922487	E082	-14979
chr19	47922513	47923056	E082	-14410