rs9640467

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

SLC37A3 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C==0323 (9678/29924,GnomAD)
C==0369 (10762/29118,TOPMED)
C==0456 (2284/5008,1000G)
C==0209 (804/3854,ALSPAC)
C==0200 (742/3708,TWINSUK)

Position: chr7:140396403 (GRCh38.p7) (7q34)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 25 Enhancers around

Promoter: 30 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 7	NC_000007.14:g.140396403C>T
GRCh37.p13 chr 7	NC_000007.13:g.140096203C>T

Molecule type	Change	Amino acid[Codon]	SO Term
SLC37A3 transcript variant 3	NM_001287498.1:c.	N/A	Intron Variant
SLC37A3 transcript variant 2	NM_032295.3:c.	N/A	Intron Variant
SLC37A3 transcript variant 1	NM_207113.2:c.	N/A	Intron Variant
SLC37A3 transcript variant X2	XM_011516626.2:c.	N/A	Intron Variant
SLC37A3 transcript variant X3	XM_011516627.2:c.	N/A	Intron Variant
SLC37A3 transcript variant X1	XM_017012712.1:c.	N/A	Intron Variant
SLC37A3 transcript variant X4	XM_017012713.1:c.	N/A	Intron Variant
SLC37A3 transcript variant X5	XM_017012714.1:c.	N/A	Intron Variant
SLC37A3 transcript variant X6	XM_017012715.1:c.	N/A	Intron Variant
SLC37A3 transcript variant X7	XM_017012716.1:c.	N/A	Intron Variant
SLC37A3 transcript variant X8	XM_017012717.1:c.	N/A	Intron Variant
SLC37A3 transcript variant X10	XM_017012718.1:c.	N/A	Intron Variant
SLC37A3 transcript variant X9	XR_927543.2:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.542	T=0.458
1000Genomes	American	Sub	694	C=0.440	T=0.560
1000Genomes	East Asian	Sub	1008	C=0.460	T=0.540
1000Genomes	Europe	Sub	1006	C=0.195	T=0.805
1000Genomes	Global	Study-wide	5008	C=0.456	T=0.544
1000Genomes	South Asian	Sub	978	C=0.620	T=0.380
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.209	T=0.791
The Genome Aggregation Database	African	Sub	8710	C=0.508	T=0.492
The Genome Aggregation Database	American	Sub	836	C=0.430	T=0.570
The Genome Aggregation Database	East Asian	Sub	1610	C=0.433	T=0.567
The Genome Aggregation Database	Europe	Sub	18466	C=0.221	T=0.778
The Genome Aggregation Database	Global	Study-wide	29924	C=0.323	T=0.676
The Genome Aggregation Database	Other	Sub	302	C=0.330	T=0.670
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.369	T=0.630
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.200	T=0.800

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

SNP ID	p-value	Traits	Study
rs9640467	0.00049	alcohol dependence	20201924

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

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

There is no significant Hi-C chromatin interaction data for this SNP.

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr7	140048981	140049603	E067	-46600
chr7	140048009	140048563	E068	-47640
chr7	140058233	140058889	E068	-37314
chr7	140089813	140089863	E069	-6340
chr7	140089993	140090143	E069	-6060
chr7	140090194	140090327	E069	-5876
chr7	140090331	140091024	E069	-5179
chr7	140048981	140049603	E070	-46600
chr7	140089662	140089774	E071	-6429
chr7	140089813	140089863	E071	-6340
chr7	140089993	140090143	E071	-6060
chr7	140090194	140090327	E071	-5876
chr7	140090331	140091024	E071	-5179
chr7	140091040	140091234	E071	-4969
chr7	140091518	140091721	E071	-4482
chr7	140091738	140091904	E071	-4299
chr7	140091923	140092047	E071	-4156
chr7	140096233	140096639	E071	30
chr7	140096710	140096798	E071	507
chr7	140097126	140097166	E071	923
chr7	140048981	140049603	E073	-46600
chr7	140085021	140085065	E073	-11138
chr7	140085068	140085300	E073	-10903
chr7	140048981	140049603	E074	-46600
chr7	140096710	140096798	E081	507

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr7	140097350	140099043	E067	1147
chr7	140135052	140135222	E067	38849
chr7	140135309	140135412	E067	39106
chr7	140135430	140135834	E067	39227
chr7	140097350	140099043	E068	1147
chr7	140135052	140135222	E068	38849
chr7	140135309	140135412	E068	39106
chr7	140097350	140099043	E069	1147
chr7	140135052	140135222	E069	38849
chr7	140135309	140135412	E069	39106
chr7	140097246	140097331	E070	1043
chr7	140097350	140099043	E070	1147
chr7	140135052	140135222	E070	38849
chr7	140135309	140135412	E070	39106
chr7	140097350	140099043	E071	1147
chr7	140135309	140135412	E071	39106
chr7	140135430	140135834	E071	39227
chr7	140097350	140099043	E072	1147
chr7	140135052	140135222	E072	38849
chr7	140135309	140135412	E072	39106
chr7	140097350	140099043	E073	1147
chr7	140135309	140135412	E073	39106
chr7	140135430	140135834	E073	39227
chr7	140097350	140099043	E074	1147
chr7	140103457	140104903	E074	7254
chr7	140097246	140097331	E082	1043
chr7	140097350	140099043	E082	1147
chr7	140135052	140135222	E082	38849
chr7	140135309	140135412	E082	39106
chr7	140135430	140135834	E082	39227