SNP Detail Info-rs6474550

Organism: Homo sapiens

Alleles: G>C / G>T

Gene : Feature

DMRT2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0447 (13375/29900,GnomAD)
T=0469 (13660/29118,TOPMED)
T=0431 (2156/5008,1000G)
T=0336 (1295/3854,ALSPAC)
T=0348 (1292/3708,TWINSUK)

Position: chr9:1052722 (GRCh38.p7) (9p24.3)

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
DMRT2 transcript variant 2	NM_001130865.2:c.	N/A	Intron Variant
DMRT2 transcript variant 1	NM_006557.6:c.	N/A	Intron Variant
DMRT2 transcript variant 3	NM_181872.4:c.	N/A	Intron Variant
DMRT2 transcript variant X1	XM_011517687.1:c.	N/A	Intron Variant
DMRT2 transcript variant X3	XM_011517690.2:c.	N/A	Intron Variant
DMRT2 transcript variant X2	XM_017014213.1:c.	N/A	Intron Variant
DMRT2 transcript variant X4	XM_017014214.1:c.	N/A	Intron Variant
DMRT2 transcript variant X5	XM_017014215.1:c.	N/A	Intron Variant
DMRT2 transcript variant X7	XM_017014216.1:c.	N/A	Intron Variant
DMRT2 transcript variant X7	XM_011517694.2:c.	N/A	5 Prime UTR Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.278	T=0.722
1000Genomes	American	Sub	694	G=0.720	T=0.280
1000Genomes	East Asian	Sub	1008	G=0.808	T=0.192
1000Genomes	Europe	Sub	1006	G=0.612	T=0.388
1000Genomes	Global	Study-wide	5008	G=0.569	T=0.431
1000Genomes	South Asian	Sub	978	G=0.570	T=0.430
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.664	T=0.336
The Genome Aggregation Database	African	Sub	8686	G=0.331	C=0.000
The Genome Aggregation Database	American	Sub	836	G=0.670	C=0.00,
The Genome Aggregation Database	East Asian	Sub	1614	G=0.828	C=0.000
The Genome Aggregation Database	Europe	Sub	18462	G=0.628	C=0.000
The Genome Aggregation Database	Global	Study-wide	29900	G=0.552	C=0.000
The Genome Aggregation Database	Other	Sub	302	G=0.520	C=0.00,
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.530	T=0.469
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.652	T=0.348

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
rs6474550	0.000309	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

rs6474550