SNP Detail Info-rs9975541

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

MIR548XHG : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0097 (2916/29888,GnomAD)
A=0128 (3733/29118,TOPMED)
A=0098 (490/5008,1000G)
A=0040 (154/3854,ALSPAC)
A=0042 (154/3708,TWINSUK)

Position: chr21:18678255 (GRCh38.p7) (21q21.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 1 Enhancer around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 21	NC_000021.9:g.18678255G>A
GRCh37.p13 chr 21	NC_000021.8:g.20050573G>A

Molecule type	Change	Amino acid[Codon]	SO Term
MIR548XHG transcript	NR_109925.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.729	A=0.271
1000Genomes	American	Sub	694	G=0.960	A=0.040
1000Genomes	East Asian	Sub	1008	G=0.996	A=0.004
1000Genomes	Europe	Sub	1006	G=0.950	A=0.050
1000Genomes	Global	Study-wide	5008	G=0.902	A=0.098
1000Genomes	South Asian	Sub	978	G=0.950	A=0.050
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.960	A=0.040
The Genome Aggregation Database	African	Sub	8704	G=0.756	A=0.244
The Genome Aggregation Database	American	Sub	834	G=0.970	A=0.030
The Genome Aggregation Database	East Asian	Sub	1616	G=0.998	A=0.002
The Genome Aggregation Database	Europe	Sub	18432	G=0.960	A=0.039
The Genome Aggregation Database	Global	Study-wide	29888	G=0.902	A=0.097
The Genome Aggregation Database	Other	Sub	302	G=0.910	A=0.090
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.871	A=0.128
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.958	A=0.042

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
rs9975541	0.000087	alcoholism	pha002893
rs9975541	0.000087	alcohol dependence	20201924
rs9975541	0.00019	alcohol dependence(early age of onset)	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

rs9975541