SNP Detail Info-rs2792224

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

PCSK5 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0214 (6428/29958,GnomAD)
G=0183 (5346/29118,TOPMED)
G=0223 (1115/5008,1000G)
G=0246 (950/3854,ALSPAC)
G=0255 (946/3708,TWINSUK)

Position: chr9:76042814 (GRCh38.p7) (9q21.13)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 12 Enhancers around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
PCSK5 transcript variant 1	NM_001190482.1:c.	N/A	Intron Variant
PCSK5 transcript variant 2	NM_006200.5:c.	N/A	Intron Variant
PCSK5 transcript variant 3	NR_120409.1:n.	N/A	Intron Variant
PCSK5 transcript variant X1	XM_005252039.3:c.	N/A	Intron Variant
PCSK5 transcript variant X2	XM_011518769.2:c.	N/A	Intron Variant
PCSK5 transcript variant X3	XM_011518770.2:c.	N/A	Genic Upstream Transcript Variant
PCSK5 transcript variant X4	XM_017014800.1:c.	N/A	Genic Upstream Transcript Variant
PCSK5 transcript variant X5	XR_929806.1:n.	N/A	Intron Variant
PCSK5 transcript variant X6	XR_929807.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.933	G=0.067
1000Genomes	American	Sub	694	A=0.670	G=0.330
1000Genomes	East Asian	Sub	1008	A=0.629	G=0.371
1000Genomes	Europe	Sub	1006	A=0.732	G=0.268
1000Genomes	Global	Study-wide	5008	A=0.777	G=0.223
1000Genomes	South Asian	Sub	978	A=0.840	G=0.160
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.754	G=0.246
The Genome Aggregation Database	African	Sub	8722	A=0.904	G=0.096
The Genome Aggregation Database	American	Sub	838	A=0.610	G=0.390
The Genome Aggregation Database	East Asian	Sub	1616	A=0.671	G=0.329
The Genome Aggregation Database	Europe	Sub	18480	A=0.747	G=0.252
The Genome Aggregation Database	Global	Study-wide	29958	A=0.785	G=0.214
The Genome Aggregation Database	Other	Sub	302	A=0.760	G=0.240
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.816	G=0.183
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.745	G=0.255

PMID	Title	Author	Journal
19268276	Genome-wide association study of smoking initiation and current smoking.	Vink JM	Am J Hum Genet

SNP ID	p-value	Traits	Study
rs2792224	0.000776	nicotine smoking	19268276

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 )
chr9	78647098	78647217	E068	-10513
chr9	78647316	78647501	E068	-10229
chr9	78647525	78647652	E068	-10078
chr9	78637614	78637704	E071	-20026
chr9	78637711	78637761	E071	-19969
chr9	78637879	78637919	E071	-19811
chr9	78638408	78638458	E071	-19272
chr9	78638466	78638506	E071	-19224
chr9	78637614	78637704	E074	-20026
chr9	78637711	78637761	E074	-19969
chr9	78653057	78653265	E082	-4465
chr9	78659124	78659634	E082	1394

rs2792224