SNP Detail Info-rs923542

Organism: Homo sapiens

Alleles: C>A

Gene : Feature

LOC105373220 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C==0150 (4496/29926,GnomAD)
C==0153 (4471/29116,TOPMED)
C==0101 (505/5008,1000G)
C==0221 (850/3854,ALSPAC)
C==0210 (778/3708,TWINSUK)

Position: chr1:238396597 (GRCh38.p7) (1q43)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 22 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.238396597C>A
GRCh37.p13 chr 1	NC_000001.10:g.238559897C>A

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105373220 transcript variant X1	XR_949308.2:n.	N/A	Intron Variant
LOC105373220 transcript variant X2	XR_949311.2:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.089	A=0.911
1000Genomes	American	Sub	694	C=0.100	A=0.900
1000Genomes	East Asian	Sub	1008	C=0.061	A=0.939
1000Genomes	Europe	Sub	1006	C=0.164	A=0.836
1000Genomes	Global	Study-wide	5008	C=0.101	A=0.899
1000Genomes	South Asian	Sub	978	C=0.100	A=0.900
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.221	A=0.779
The Genome Aggregation Database	African	Sub	8718	C=0.110	A=0.890
The Genome Aggregation Database	American	Sub	836	C=0.100	A=0.900
The Genome Aggregation Database	East Asian	Sub	1622	C=0.062	A=0.938
The Genome Aggregation Database	Europe	Sub	18448	C=0.179	A=0.820
The Genome Aggregation Database	Global	Study-wide	29926	C=0.150	A=0.849
The Genome Aggregation Database	Other	Sub	302	C=0.100	A=0.900
Trans-Omics for Precision Medicine	Global	Study-wide	29116	C=0.153	A=0.846
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.210	A=0.790

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
rs923542	2.12E-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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr1	238567848	238568032	E067	7951
chr1	238569176	238569226	E067	9279
chr1	238569470	238569797	E067	9573
chr1	238569889	238570130	E067	9992
chr1	238567848	238568032	E069	7951
chr1	238568344	238568515	E069	8447
chr1	238569176	238569226	E069	9279
chr1	238569470	238569797	E069	9573
chr1	238569889	238570130	E069	9992
chr1	238567848	238568032	E071	7951
chr1	238568344	238568515	E071	8447
chr1	238569176	238569226	E071	9279
chr1	238569470	238569797	E071	9573
chr1	238569889	238570130	E071	9992
chr1	238567848	238568032	E072	7951
chr1	238568344	238568515	E072	8447
chr1	238569176	238569226	E072	9279
chr1	238569470	238569797	E072	9573
chr1	238569889	238570130	E072	9992
chr1	238569176	238569226	E074	9279
chr1	238569470	238569797	E074	9573
chr1	238569889	238570130	E074	9992

rs923542