SNP Detail Info-rs3131824

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

C1orf146 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0135 (4060/29966,GnomAD)
G==0116 (3387/29118,TOPMED)
G==0068 (343/5008,1000G)
G==0198 (763/3854,ALSPAC)
G==0193 (717/3708,TWINSUK)

Position: chr1:92224379 (GRCh38.p7) (1p22.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 2 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.92224379G>A
GRCh37.p13 chr 1	NC_000001.10:g.92689936G>A

Molecule type	Change	Amino acid[Codon]	SO Term
C1orf146 transcript	NM_001012425.1:c.	N/A	Intron Variant
C1orf146 transcript variant X1	XM_011541447.2:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.023	A=0.977
1000Genomes	American	Sub	694	G=0.110	A=0.890
1000Genomes	East Asian	Sub	1008	G=0.003	A=0.997
1000Genomes	Europe	Sub	1006	G=0.194	A=0.806
1000Genomes	Global	Study-wide	5008	G=0.068	A=0.932
1000Genomes	South Asian	Sub	978	G=0.040	A=0.960
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.198	A=0.802
The Genome Aggregation Database	African	Sub	8732	G=0.049	A=0.951
The Genome Aggregation Database	American	Sub	838	G=0.100	A=0.900
The Genome Aggregation Database	East Asian	Sub	1620	G=0.002	A=0.998
The Genome Aggregation Database	Europe	Sub	18474	G=0.190	A=0.809
The Genome Aggregation Database	Global	Study-wide	29966	G=0.135	A=0.864
The Genome Aggregation Database	Other	Sub	302	G=0.090	A=0.910
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.116	A=0.883
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.193	A=0.807

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
rs3131824	3.01E-05	alcohol consumption	23953852

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr1:92689936	RP4-621B10.8	ENSG00000273487.1	G>A	2.7662e-4	35142	Frontal_Cortex_BA9

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr1	92647804	92647958	E072	-41978
chr1	92705722	92705867	E072	15786

rs3131824