SNP Detail Info-rs243446

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

HS6ST2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0474 (9639/20321,GnomAD)
G=0471 (1778/3775,1000G)
G=0491 (1820/3708,TWINSUK)
G=0481 (1390/2889,ALSPAC)

Position: chrX:132694662 (GRCh38.p7) (Xq26.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 5 Enhancers around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
HS6ST2 transcript variant L	NM_001077188.1:c.	N/A	Intron Variant
HS6ST2 transcript variant S	NM_147175.3:c.	N/A	Intron Variant
HS6ST2 transcript variant X1	XM_005262490.3:c.	N/A	Intron Variant
HS6ST2 transcript variant X2	XM_005262491.2:c.	N/A	Intron Variant
HS6ST2 transcript variant X2	XM_011531406.1:c.	N/A	Intron Variant
HS6ST2 transcript variant X3	XM_017029944.1:c.	N/A	Intron Variant
HS6ST2 transcript variant X3	XM_017029945.1:c.	N/A	Intron Variant
HS6ST2 transcript variant X4	XM_017029946.1:c.	N/A	Intron Variant
HS6ST2 transcript variant X7	XM_011531407.2:c.	N/A	Genic Downstream Transcript Variant
HS6ST2 transcript variant X8	XM_011531408.2:c.	N/A	Genic Downstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1003	A=0.377	G=0.623
1000Genomes	American	Sub	524	A=0.700	G=0.300
1000Genomes	East Asian	Sub	764	A=0.690	G=0.310
1000Genomes	Europe	Sub	766	A=0.470	G=0.530
1000Genomes	Global	Study-wide	3775	A=0.529	G=0.471
1000Genomes	South Asian	Sub	718	A=0.510	G=0.490
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	2889	A=0.519	G=0.481
The Genome Aggregation Database	African	Sub	5698	A=0.397	G=0.603
The Genome Aggregation Database	American	Sub	617	A=0.750	G=0.250
The Genome Aggregation Database	East Asian	Sub	959	A=0.680	G=0.320
The Genome Aggregation Database	Europe	Sub	12864	A=0.480	G=0.519
The Genome Aggregation Database	Global	Study-wide	20321	A=0.474	G=0.525
The Genome Aggregation Database	Other	Sub	183	A=0.450	G=0.550
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.509	G=0.491

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
rs243446	0.00092	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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chrX	131874439	131874908	E069	45749
chrX	131792913	131792963	E070	-35727
chrX	131793196	131793268	E070	-35422
chrX	131820334	131820738	E070	-7952
chrX	131868884	131868934	E074	40194

rs243446