SNP Detail Info-rs6872430

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

ARL15 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0371 (11094/29876,GnomAD)
G==0398 (11613/29118,TOPMED)
G==0456 (2286/5008,1000G)
G==0314 (1211/3854,ALSPAC)
G==0310 (1151/3708,TWINSUK)

Position: chr5:54245925 (GRCh38.p7) (5q11.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 15 Enhancers around

Promoter: 1 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 5	NC_000005.10:g.54245925G>A
GRCh37.p13 chr 5	NC_000005.9:g.53541755G>A

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	G=0.511	A=0.489
1000Genomes	American	Sub	694	G=0.540	A=0.460
1000Genomes	East Asian	Sub	1008	G=0.573	A=0.427
1000Genomes	Europe	Sub	1006	G=0.309	A=0.691
1000Genomes	Global	Study-wide	5008	G=0.456	A=0.544
1000Genomes	South Asian	Sub	978	G=0.350	A=0.650
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.314	A=0.686
The Genome Aggregation Database	African	Sub	8692	G=0.470	A=0.530
The Genome Aggregation Database	American	Sub	834	G=0.520	A=0.480
The Genome Aggregation Database	East Asian	Sub	1604	G=0.606	A=0.394
The Genome Aggregation Database	Europe	Sub	18444	G=0.299	A=0.700
The Genome Aggregation Database	Global	Study-wide	29876	G=0.371	A=0.628
The Genome Aggregation Database	Other	Sub	302	G=0.240	A=0.760
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.398	A=0.601
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.310	A=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
rs6872430	7.83E-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	-16299
chr5	53573941	53574185	E069	32186
chr5	53574222	53574433	E069	32467
chr5	53510666	53510874	E070	-30881
chr5	53511150	53511650	E070	-30105
chr5	53513271	53513323	E070	-28432
chr5	53573941	53574185	E072	32186
chr5	53574222	53574433	E072	32467
chr5	53574445	53574505	E072	32690
chr5	53574222	53574433	E074	32467
chr5	53574445	53574505	E074	32690
chr5	53591192	53591246	E074	49437
chr5	53510666	53510874	E081	-30881
chr5	53511150	53511650	E081	-30105
chr5	53511150	53511650	E082	-30105

rs6872430