SNP Detail Info-rs12233919

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

ARL15 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0369 (11057/29902,GnomAD)
A==0395 (11509/29118,TOPMED)
A==0453 (2268/5008,1000G)
A==0313 (1208/3854,ALSPAC)
A==0310 (1150/3708,TWINSUK)

Position: chr5:54239714 (GRCh38.p7) (5q11.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 14 Enhancers around

Promoter: 1 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 5	NC_000005.10:g.54239714A>G
GRCh37.p13 chr 5	NC_000005.9:g.53535544A>G

Molecule type	Change	Amino acid[Codon]	SO Term
ARL15 transcript	NM_019087.2:c.	N/A	Intron Variant
ARL15 transcript variant X1	XM_011543498.2:c.	N/A	Intron Variant
ARL15 transcript variant X2	XM_011543499.2:c.	N/A	Intron Variant
ARL15 transcript variant X3	XM_011543500.2:c.	N/A	Intron Variant
ARL15 transcript variant X4	XM_017009598.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.500	G=0.500
1000Genomes	American	Sub	694	A=0.540	G=0.460
1000Genomes	East Asian	Sub	1008	A=0.572	G=0.428
1000Genomes	Europe	Sub	1006	A=0.310	G=0.690
1000Genomes	Global	Study-wide	5008	A=0.453	G=0.547
1000Genomes	South Asian	Sub	978	A=0.350	G=0.650
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.313	G=0.687
The Genome Aggregation Database	African	Sub	8686	A=0.465	G=0.535
The Genome Aggregation Database	American	Sub	836	A=0.520	G=0.480
The Genome Aggregation Database	East Asian	Sub	1610	A=0.605	G=0.395
The Genome Aggregation Database	Europe	Sub	18468	A=0.299	G=0.700
The Genome Aggregation Database	Global	Study-wide	29902	A=0.369	G=0.630
The Genome Aggregation Database	Other	Sub	302	A=0.240	G=0.760
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.395	G=0.604
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.310	G=0.690

PMID	Title	Author	Journal
24962325	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Kapoor M	Drug Alcohol Depend

SNP ID	p-value	Traits	Study
rs12233919	4.69E-07	alcohol dependence (age at onset)	24962325

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 )
chr5	53524921	53525456	E068	-10088
chr5	53573941	53574185	E069	38397
chr5	53574222	53574433	E069	38678
chr5	53510666	53510874	E070	-24670
chr5	53511150	53511650	E070	-23894
chr5	53513271	53513323	E070	-22221
chr5	53573941	53574185	E072	38397
chr5	53574222	53574433	E072	38678
chr5	53574445	53574505	E072	38901
chr5	53574222	53574433	E074	38678
chr5	53574445	53574505	E074	38901
chr5	53510666	53510874	E081	-24670
chr5	53511150	53511650	E081	-23894
chr5	53511150	53511650	E082	-23894

rs12233919