SNP Detail Info-rs9985748

Organism: Homo sapiens

Alleles: G>A / G>T

Gene : Feature

LOC101928721 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0231 (6932/29918,GnomAD)
A=0212 (6190/29118,TOPMED)
A=0198 (993/5008,1000G)
A=0236 (910/3854,ALSPAC)
A=0242 (897/3708,TWINSUK)

Position: chr4:37083087 (GRCh38.p7) (4p14)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
LOC101928721 transcript variant X4	XR_001741658.1:n.	N/A	Intron Variant
LOC101928721 transcript variant X3	XR_244605.4:n.	N/A	Intron Variant
LOC101928721 transcript variant X1	XR_427511.3:n.	N/A	Intron Variant
LOC101928721 transcript variant X9	XR_427512.3:n.	N/A	Intron Variant
LOC101928721 transcript variant X2	XR_925199.2:n.	N/A	Intron Variant
LOC101928721 transcript variant X6	XR_925202.2:n.	N/A	Intron Variant
LOC101928721 transcript variant X5	XR_925203.2:n.	N/A	Intron Variant
LOC101928721 transcript variant X7	XR_925204.2:n.	N/A	Intron Variant
LOC101928721 transcript variant X8	XR_925205.2:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.791	A=0.209
1000Genomes	American	Sub	694	G=0.770	A=0.230
1000Genomes	East Asian	Sub	1008	G=0.762	A=0.238
1000Genomes	Europe	Sub	1006	G=0.762	A=0.238
1000Genomes	Global	Study-wide	5008	G=0.802	A=0.198
1000Genomes	South Asian	Sub	978	G=0.920	A=0.080
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.764	A=0.236
The Genome Aggregation Database	African	Sub	8718	G=0.797	A=0.203
The Genome Aggregation Database	American	Sub	836	G=0.810	A=0.190
The Genome Aggregation Database	East Asian	Sub	1616	G=0.767	A=0.233
The Genome Aggregation Database	Europe	Sub	18446	G=0.751	A=0.248
The Genome Aggregation Database	Global	Study-wide	29918	G=0.768	A=0.231
The Genome Aggregation Database	Other	Sub	302	G=0.830	A=0.170
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.787	A=0.212
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.758	A=0.242

PMID	Title	Author	Journal
23953852	Genome-wide association studies of maximum number of drinks.	Pan Y	J Psychiatr Res

SNP ID	p-value	Traits	Study
rs9985748	6.16E-05	alcohol consumption	23953852

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

rs9985748