SNP Detail Info-rs9323304

Organism: Homo sapiens

Alleles: A>C / A>T

Gene : Feature

EXOC5 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0254 (7622/29930,GnomAD)
C=0367 (10698/29118,TOPMED)
C=0291 (1455/5008,1000G)
C=0058 (225/3854,ALSPAC)
C=0061 (225/3708,TWINSUK)

Position: chr14:57245764 (GRCh38.p7) (14q22.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 47 Enhancers around

Promoter: 2 Promoters around

Molecule type	Change	Amino acid[Codon]	SO Term
EXOC5 transcript	NM_006544.3:c.	N/A	Intron Variant
EXOC5 transcript variant X1	XM_005267272.3:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.116	C=0.884
1000Genomes	American	Sub	694	A=0.890	C=0.110
1000Genomes	East Asian	Sub	1008	A=0.914	C=0.086
1000Genomes	Europe	Sub	1006	A=0.941	C=0.059
1000Genomes	Global	Study-wide	5008	A=0.709	C=0.291
1000Genomes	South Asian	Sub	978	A=0.930	C=0.070
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.942	C=0.058
The Genome Aggregation Database	African	Sub	8702	A=0.252	T=0.000
The Genome Aggregation Database	American	Sub	836	A=0.920	T=0.00,
The Genome Aggregation Database	East Asian	Sub	1618	A=0.900	T=0.000
The Genome Aggregation Database	Europe	Sub	18472	A=0.953	T=0.000
The Genome Aggregation Database	Global	Study-wide	29930	A=0.745	T=0.000
The Genome Aggregation Database	Other	Sub	302	A=0.880	T=0.00,
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.632	C=0.367
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.939	C=0.061

PMID	Title	Author	Journal
23743675	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Kapoor M	Hum Genet

SNP ID	p-value	Traits	Study
rs9323304	8.78E-05	alcohol consumption	23743675

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 )
chr14	29686832	29687340	E068	40912
chr14	29687375	29687573	E068	41455
chr14	29657822	29657872	E070	11902
chr14	29684360	29684418	E070	38440
chr14	29684462	29684580	E070	38542
chr14	29684674	29684952	E070	38754
chr14	29685083	29686537	E070	39163
chr14	29686832	29687340	E070	40912
chr14	29687375	29687573	E070	41455
chr14	29689016	29689066	E070	43096
chr14	29689116	29689338	E070	43196
chr14	29693112	29694459	E070	47192
chr14	29631247	29631349	E081	-14571
chr14	29631462	29631546	E081	-14374
chr14	29631564	29631657	E081	-14263
chr14	29634784	29635139	E081	-10781
chr14	29635238	29635329	E081	-10591
chr14	29649172	29649222	E081	3252
chr14	29649777	29649955	E081	3857
chr14	29684360	29684418	E081	38440
chr14	29684462	29684580	E081	38542
chr14	29684674	29684952	E081	38754
chr14	29685083	29686537	E081	39163
chr14	29686832	29687340	E081	40912
chr14	29687375	29687573	E081	41455
chr14	29687733	29687922	E081	41813
chr14	29689116	29689338	E081	43196
chr14	29693112	29694459	E081	47192
chr14	29694469	29694534	E081	48549
chr14	29694633	29694719	E081	48713
chr14	29631462	29631546	E082	-14374
chr14	29631564	29631657	E082	-14263
chr14	29632307	29632573	E082	-13347
chr14	29634784	29635139	E082	-10781
chr14	29649777	29649955	E082	3857
chr14	29650148	29650217	E082	4228
chr14	29684674	29684952	E082	38754
chr14	29685083	29686537	E082	39163
chr14	29686832	29687340	E082	40912
chr14	29687375	29687573	E082	41455
chr14	29689016	29689066	E082	43096
chr14	29689116	29689338	E082	43196
chr14	29693112	29694459	E082	47192
chr14	29694469	29694534	E082	48549
chr14	29694633	29694719	E082	48713
chr14	29694880	29694930	E082	48960
chr14	29694972	29695139	E082	49052

rs9323304

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr14	29691947	29692275	E070	46027
chr14	29691947	29692275	E082	46027