SNP Detail Info-rs11228346

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

CPT1A : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0079 (2385/29988,GnomAD)
G=0080 (2343/29118,TOPMED)
G=0048 (238/5008,1000G)
G=0101 (389/3854,ALSPAC)
G=0103 (383/3708,TWINSUK)

Position: chr11:68774072 (GRCh38.p7) (11q13.3)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 14 Enhancers around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
CPT1A transcript variant 2	NM_001031847.2:c.	N/A	Intron Variant
CPT1A transcript variant 1	NM_001876.3:c.	N/A	Intron Variant
CPT1A transcript variant X1	XM_005273762.2:c.	N/A	Intron Variant
CPT1A transcript variant X2	XM_005273763.1:c.	N/A	Intron Variant
CPT1A transcript variant X3	XM_017017220.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.980	G=0.020
1000Genomes	American	Sub	694	A=0.930	G=0.070
1000Genomes	East Asian	Sub	1008	A=0.983	G=0.017
1000Genomes	Europe	Sub	1006	A=0.877	G=0.123
1000Genomes	Global	Study-wide	5008	A=0.952	G=0.048
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=0.899	G=0.101
The Genome Aggregation Database	African	Sub	8734	A=0.976	G=0.024
The Genome Aggregation Database	American	Sub	838	A=0.900	G=0.100
The Genome Aggregation Database	East Asian	Sub	1622	A=0.972	G=0.028
The Genome Aggregation Database	Europe	Sub	18492	A=0.893	G=0.106
The Genome Aggregation Database	Global	Study-wide	29988	A=0.920	G=0.079
The Genome Aggregation Database	Other	Sub	302	A=0.790	G=0.210
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.919	G=0.080
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.897	G=0.103

PMID	Title	Author	Journal
20158304	A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.	Lind PA	Twin Res Hum Genet

SNP ID	p-value	Traits	Study
rs11228346	1.97E-05	alcohol and nictotine co-dependence	20158304

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 )
chr11	68584018	68584093	E071	42478
chr11	68584194	68584511	E071	42654
chr11	68584536	68584625	E071	42996
chr11	68584649	68584962	E071	43109
chr11	68584964	68585077	E071	43424
chr11	68586778	68586828	E071	45238
chr11	68586886	68587198	E071	45346
chr11	68584536	68584625	E072	42996
chr11	68584649	68584962	E072	43109
chr11	68584964	68585077	E072	43424
chr11	68586372	68586468	E073	44832
chr11	68577760	68577946	E081	36220
chr11	68577760	68577946	E082	36220
chr11	68578068	68578155	E082	36528

rs11228346