SNP Detail Info-rs9630453

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

ACAN : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0235 (7053/29920,GnomAD)
G=0333 (9712/29118,TOPMED)
G=0291 (1457/5008,1000G)
G=0080 (309/3854,ALSPAC)
G=0081 (302/3708,TWINSUK)

Position: chr15:88860691 (GRCh38.p7) (15q26.1)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 35 Enhancers around

Promoter: 1 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
ACAN transcript variant 1	NM_001135.3:c.	N/A	Intron Variant
ACAN transcript variant 2	NM_013227.3:c.	N/A	Intron Variant
ACAN transcript variant X1	XM_006720419.1:c.	N/A	Intron Variant
ACAN transcript variant X2	XM_011521313.1:c.	N/A	Intron Variant
ACAN transcript variant X3	XM_011521314.1:c.	N/A	Intron Variant
ACAN transcript variant X2	XM_017021985.1:c.	N/A	Intron Variant
ACAN transcript variant X3	XM_017021986.1:c.	N/A	Intron Variant
ACAN transcript variant X5	XM_017021987.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.291	G=0.709
1000Genomes	American	Sub	694	A=0.890	G=0.110
1000Genomes	East Asian	Sub	1008	A=0.938	G=0.062
1000Genomes	Europe	Sub	1006	A=0.914	G=0.086
1000Genomes	Global	Study-wide	5008	A=0.709	G=0.291
1000Genomes	South Asian	Sub	978	A=0.700	G=0.300
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.920	G=0.080
The Genome Aggregation Database	African	Sub	8696	A=0.379	G=0.621
The Genome Aggregation Database	American	Sub	838	A=0.920	G=0.080
The Genome Aggregation Database	East Asian	Sub	1620	A=0.919	G=0.081
The Genome Aggregation Database	Europe	Sub	18464	A=0.923	G=0.076
The Genome Aggregation Database	Global	Study-wide	29920	A=0.764	G=0.235
The Genome Aggregation Database	Other	Sub	302	A=0.860	G=0.140
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.666	G=0.333
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.919	G=0.081

PMID	Title	Author	Journal
17158188	Novel genes identified in a high-density genome wide association study for nicotine dependence.	Bierut LJ	Hum Mol Genet

SNP ID	p-value	Traits	Study
rs9630453	0.000516	nicotine dependence	17158188

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 )
chr15	89439501	89441464	E067	35579
chr15	89453268	89453325	E067	49346
chr15	89376716	89376907	E068	-27015
chr15	89376974	89378034	E068	-25888
chr15	89439501	89441464	E068	35579
chr15	89376070	89376338	E069	-27584
chr15	89376716	89376907	E069	-27015
chr15	89376974	89378034	E069	-25888
chr15	89439501	89441464	E069	35579
chr15	89447655	89448844	E069	43733
chr15	89439501	89441464	E070	35579
chr15	89451740	89451878	E070	47818
chr15	89451899	89451983	E070	47977
chr15	89451995	89452049	E070	48073
chr15	89453268	89453325	E070	49346
chr15	89376070	89376338	E071	-27584
chr15	89376716	89376907	E071	-27015
chr15	89376974	89378034	E071	-25888
chr15	89439501	89441464	E071	35579
chr15	89447655	89448844	E071	43733
chr15	89376716	89376907	E072	-27015
chr15	89376974	89378034	E072	-25888
chr15	89439501	89441464	E072	35579
chr15	89447655	89448844	E072	43733
chr15	89439501	89441464	E073	35579
chr15	89450695	89450979	E073	46773
chr15	89451012	89451131	E073	47090
chr15	89451184	89451305	E073	47262
chr15	89376070	89376338	E074	-27584
chr15	89376716	89376907	E074	-27015
chr15	89376974	89378034	E074	-25888
chr15	89439501	89441464	E074	35579
chr15	89447655	89448844	E074	43733
chr15	89439501	89441464	E081	35579
chr15	89447655	89448844	E082	43733

rs9630453