SNP Detail Info-rs9888818

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

SCNN1B : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0238 (7138/29940,GnomAD)
A=0242 (7073/29118,TOPMED)
A=0278 (1393/5008,1000G)
A=0200 (769/3854,ALSPAC)
A=0210 (777/3708,TWINSUK)

Position: chr16:23288439 (GRCh38.p7) (16p12.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 17 Enhancers around

Promoter: 10 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 16	NC_000016.10:g.23288439G>A
GRCh37.p13 chr 16	NC_000016.9:g.23299760G>A

Molecule type	Change	Amino acid[Codon]	SO Term
SCNN1B transcript	NM_000336.2:c.	N/A	Genic Upstream Transcript Variant
SCNN1B transcript variant X1	XM_017023525.1:c.	N/A	Intron Variant
SCNN1B transcript variant X4	XM_017023526.1:c.	N/A	Intron Variant
SCNN1B transcript variant X2	XM_011545913.2:c.	N/A	Genic Upstream Transcript Variant
SCNN1B transcript variant X3	XM_011545914.1:c.	N/A	Genic Upstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.658	A=0.342
1000Genomes	American	Sub	694	G=0.810	A=0.190
1000Genomes	East Asian	Sub	1008	G=0.716	A=0.284
1000Genomes	Europe	Sub	1006	G=0.773	A=0.227
1000Genomes	Global	Study-wide	5008	G=0.722	A=0.278
1000Genomes	South Asian	Sub	978	G=0.700	A=0.300
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.800	A=0.200
The Genome Aggregation Database	African	Sub	8704	G=0.690	A=0.310
The Genome Aggregation Database	American	Sub	838	G=0.790	A=0.210
The Genome Aggregation Database	East Asian	Sub	1608	G=0.691	A=0.309
The Genome Aggregation Database	Europe	Sub	18488	G=0.799	A=0.200
The Genome Aggregation Database	Global	Study-wide	29940	G=0.761	A=0.238
The Genome Aggregation Database	Other	Sub	302	G=0.820	A=0.180
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.757	A=0.242
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.790	A=0.210

PMID	Title	Author	Journal
24277619	ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.	Quillen EE	Am J Med Genet B Neuropsychiatr Genet

SNP ID	p-value	Traits	Study
rs9888818	0.00034	alcohol consumption (maxi-drinks)	24277619

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 )
chr16	23290955	23291511	E067	-8249
chr16	23289509	23289652	E068	-10108
chr16	23290955	23291511	E068	-8249
chr16	23291882	23292416	E068	-7344
chr16	23288145	23288486	E069	-11274
chr16	23290955	23291511	E069	-8249
chr16	23259686	23259857	E071	-39903
chr16	23289834	23289970	E071	-9790
chr16	23290955	23291511	E071	-8249
chr16	23291882	23292416	E071	-7344
chr16	23290955	23291511	E072	-8249
chr16	23291882	23292416	E072	-7344
chr16	23290955	23291511	E073	-8249
chr16	23259686	23259857	E074	-39903
chr16	23289509	23289652	E074	-10108
chr16	23289834	23289970	E074	-9790
chr16	23290955	23291511	E074	-8249

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr16	23313562	23313788	E067	13802
chr16	23313562	23313788	E068	13802
chr16	23313562	23313788	E069	13802
chr16	23313562	23313788	E070	13802
chr16	23313965	23314189	E070	14205
chr16	23313562	23313788	E071	13802
chr16	23313965	23314189	E071	14205
chr16	23313562	23313788	E073	13802
chr16	23313562	23313788	E082	13802
chr16	23313965	23314189	E082	14205

rs9888818