SNP Detail Info-rs7530302

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

LOC105372928 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0100 (3005/29950,GnomAD)
A=0135 (3937/29116,TOPMED)
A=0135 (675/5008,1000G)
A=0050 (192/3854,ALSPAC)
A=0052 (194/3708,TWINSUK)

Position: chr1:220491610 (GRCh38.p7) (1q41)

Phenotype: ND

Dataset:

GWASdb2

Publications: 4 publication(s)

Genomic View: See rs on genome

Enhancer: 5 Enhancers around

Promoter: 20 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.220491610G>A
GRCh37.p13 chr 1	NC_000001.10:g.220664952G>A

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105372928 transcript variant X1	XR_001737822.1:n.	N/A	Intron Variant
LOC105372928 transcript variant X2	XR_922615.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.750	A=0.250
1000Genomes	American	Sub	694	G=0.950	A=0.050
1000Genomes	East Asian	Sub	1008	G=0.890	A=0.110
1000Genomes	Europe	Sub	1006	G=0.946	A=0.054
1000Genomes	Global	Study-wide	5008	G=0.865	A=0.135
1000Genomes	South Asian	Sub	978	G=0.850	A=0.150
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.950	A=0.050
The Genome Aggregation Database	African	Sub	8698	G=0.795	A=0.205
The Genome Aggregation Database	American	Sub	836	G=0.960	A=0.040
The Genome Aggregation Database	East Asian	Sub	1616	G=0.891	A=0.109
The Genome Aggregation Database	Europe	Sub	18498	G=0.946	A=0.053
The Genome Aggregation Database	Global	Study-wide	29950	G=0.899	A=0.100
The Genome Aggregation Database	Other	Sub	302	G=0.930	A=0.070
Trans-Omics for Precision Medicine	Global	Study-wide	29116	G=0.864	A=0.135
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.948	A=0.052

PMID	Title	Author	Journal
22536871	Convergence of genetic influences in comorbidity.	McEachin RC	BMC Bioinformatics
20158304	A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.	Lind PA	Twin Res Hum Genet
21876473	Confirmation of prior evidence of genetic susceptibility to alcoholism in a genome-wide association study of comorbid alcoholism and bipolar disorder.	Lydall GJ	Psychiatr Genet
25043041	Neuropsychosocial profiles of current and future adolescent alcohol misusers.	Whelan R	Nature

SNP ID	p-value	Traits	Study
rs7530302	1.9E-09	Comorbid alcohol and nicotine dependence	20158304
rs7530302	0.00000687	Nicotine dependence (smoking)	20158304
rs7530302	0.00037	Alcohol 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 )
chr1	220660658	220661127	E070	-3825
chr1	220700195	220700262	E070	35243
chr1	220699726	220699979	E072	34774
chr1	220699726	220699979	E081	34774
chr1	220700195	220700262	E081	35243

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	220700316	220700481	E067	35364
chr1	220700506	220703571	E067	35554
chr1	220700316	220700481	E068	35364
chr1	220700506	220703571	E068	35554
chr1	220700316	220700481	E069	35364
chr1	220700506	220703571	E069	35554
chr1	220700316	220700481	E070	35364
chr1	220700506	220703571	E070	35554
chr1	220700316	220700481	E071	35364
chr1	220700506	220703571	E071	35554
chr1	220700316	220700481	E072	35364
chr1	220700506	220703571	E072	35554
chr1	220700316	220700481	E073	35364
chr1	220700506	220703571	E073	35554
chr1	220700316	220700481	E074	35364
chr1	220700506	220703571	E074	35554
chr1	220700316	220700481	E081	35364
chr1	220700506	220703571	E081	35554
chr1	220700316	220700481	E082	35364
chr1	220700506	220703571	E082	35554

rs7530302