SNP Detail Info-rs7293114

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

LARGE : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0139 (4185/29960,GnomAD)
G=0164 (4791/29114,TOPMED)
G=0159 (794/5008,1000G)
G=0111 (426/3854,ALSPAC)
G=0108 (399/3708,TWINSUK)

Position: chr22:33589329 (GRCh38.p7) (22q12.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 37 Enhancers around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
LARGE1 transcript variant 1	NM_004737.4:c.	N/A	Intron Variant
LARGE1 transcript variant 2	NM_133642.3:c.	N/A	Intron Variant
LARGE1 transcript variant X1	XM_005261831.3:c.	N/A	Intron Variant
LARGE1 transcript variant X3	XM_005261832.3:c.	N/A	Intron Variant
LARGE1 transcript variant X2	XM_011530510.2:c.	N/A	Intron Variant
LARGE transcript variant X7	XM_011530514.2:c.	N/A	Intron Variant
LARGE1 transcript variant X6	XM_011530512.2:c.	N/A	Genic Upstream Transcript Variant
LARGE1 transcript variant X7	XM_011530513.2:c.	N/A	Genic Upstream Transcript Variant
LARGE transcript variant X4	XR_001755370.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.750	G=0.250
1000Genomes	American	Sub	694	A=0.810	G=0.190
1000Genomes	East Asian	Sub	1008	A=0.862	G=0.138
1000Genomes	Europe	Sub	1006	A=0.878	G=0.122
1000Genomes	Global	Study-wide	5008	A=0.841	G=0.159
1000Genomes	South Asian	Sub	978	A=0.930	G=0.070
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.889	G=0.111
The Genome Aggregation Database	African	Sub	8706	A=0.784	G=0.216
The Genome Aggregation Database	American	Sub	834	A=0.810	G=0.190
The Genome Aggregation Database	East Asian	Sub	1618	A=0.847	G=0.153
The Genome Aggregation Database	Europe	Sub	18502	A=0.899	G=0.100
The Genome Aggregation Database	Global	Study-wide	29960	A=0.860	G=0.139
The Genome Aggregation Database	Other	Sub	300	A=0.870	G=0.130
Trans-Omics for Precision Medicine	Global	Study-wide	29114	A=0.835	G=0.164
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.892	G=0.108

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
rs7293114	2.8E-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 )
chr22	33935359	33935521	E067	-49794
chr22	33935590	33935727	E067	-49588
chr22	33935839	33936912	E067	-48403
chr22	33965599	33965946	E067	-19369
chr22	33935839	33936912	E068	-48403
chr22	33964642	33965569	E068	-19746
chr22	33965599	33965946	E068	-19369
chr22	33973473	33974416	E068	-10899
chr22	33935839	33936912	E069	-48403
chr22	33959206	33959315	E069	-26000
chr22	33959320	33959984	E069	-25331
chr22	33959021	33959100	E070	-26215
chr22	33959206	33959315	E070	-26000
chr22	33959320	33959984	E070	-25331
chr22	33964642	33965569	E070	-19746
chr22	33965599	33965946	E070	-19369
chr22	33968444	33968569	E070	-16746
chr22	33992358	33992421	E070	7043
chr22	33935590	33935727	E071	-49588
chr22	33935839	33936912	E071	-48403
chr22	33965599	33965946	E071	-19369
chr22	33935839	33936912	E072	-48403
chr22	33964642	33965569	E072	-19746
chr22	33965599	33965946	E072	-19369
chr22	34017793	34017886	E072	32478
chr22	33935839	33936912	E073	-48403
chr22	33964642	33965569	E073	-19746
chr22	33965599	33965946	E073	-19369
chr22	33935590	33935727	E074	-49588
chr22	33935839	33936912	E074	-48403
chr22	34017793	34017886	E074	32478
chr22	33935359	33935521	E081	-49794
chr22	33935590	33935727	E081	-49588
chr22	33935839	33936912	E081	-48403
chr22	33935839	33936912	E082	-48403
chr22	33965599	33965946	E082	-19369
chr22	33973473	33974416	E082	-10899

rs7293114