SNP Detail Info-rs7024200

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

PCSK5 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0118 (3558/29934,GnomAD)
G=0148 (4315/29118,TOPMED)
G=0116 (582/5008,1000G)
G=0063 (242/3854,ALSPAC)
G=0069 (254/3708,TWINSUK)

Position: chr9:76078316 (GRCh38.p7) (9q21.13)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 5 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=0.688	G=0.312
1000Genomes	American	Sub	694	A=0.880	G=0.120
1000Genomes	East Asian	Sub	1008	A=0.999	G=0.001
1000Genomes	Europe	Sub	1006	A=0.929	G=0.071
1000Genomes	Global	Study-wide	5008	A=0.884	G=0.116
1000Genomes	South Asian	Sub	978	A=0.980	G=0.020
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.937	G=0.063
The Genome Aggregation Database	African	Sub	8698	A=0.749	G=0.251
The Genome Aggregation Database	American	Sub	836	A=0.910	G=0.090
The Genome Aggregation Database	East Asian	Sub	1620	A=1.000	G=0.000
The Genome Aggregation Database	Europe	Sub	18478	A=0.930	G=0.069
The Genome Aggregation Database	Global	Study-wide	29934	A=0.881	G=0.118
The Genome Aggregation Database	Other	Sub	302	A=0.950	G=0.050
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.851	G=0.148
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.931	G=0.069

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
rs7024200	0.000774	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	-46015
chr9	78647316	78647501	E068	-45731
chr9	78647525	78647652	E068	-45580
chr9	78653057	78653265	E082	-39967
chr9	78659124	78659634	E082	-33598

rs7024200