rs4261468

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

RAB27A : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0339 (10145/29904,GnomAD)
G=0376 (10950/29118,TOPMED)
G=0432 (2161/5008,1000G)
G=0232 (894/3854,ALSPAC)
G=0228 (844/3708,TWINSUK)

Position: chr15:55263404 (GRCh38.p7) (15q21.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 3 publication(s)

Genomic View: See rs on genome

Enhancer: 2 Enhancers around

Promoter: 9 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 15	NC_000015.10:g.55263404A>G
GRCh37.p13 chr 15	NC_000015.9:g.55555602A>G
RAB27A RefSeqGene	LRG_96

Gene: RAB27A, RAB27A, member RAS oncogene family(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RAB27A transcript variant 1	NM_004580.4:c.	N/A	Intron Variant
RAB27A transcript variant 2	NM_183234.2:c.	N/A	Intron Variant
RAB27A transcript variant 3	NM_183235.2:c.	N/A	Intron Variant
RAB27A transcript variant 4	NM_183236.2:c.	N/A	Intron Variant
RAB27A transcript variant X4	XM_005254576.4:c.	N/A	Intron Variant
RAB27A transcript variant X1	XM_011521852.1:c.	N/A	Intron Variant
RAB27A transcript variant X3	XM_011521854.1:c.	N/A	Intron Variant
RAB27A transcript variant X3	XM_011521855.2:c.	N/A	Intron Variant
RAB27A transcript variant X6	XM_011521856.2:c.	N/A	Genic Upstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.396	G=0.604
1000Genomes	American	Sub	694	A=0.710	G=0.290
1000Genomes	East Asian	Sub	1008	A=0.396	G=0.604
1000Genomes	Europe	Sub	1006	A=0.753	G=0.247
1000Genomes	Global	Study-wide	5008	A=0.568	G=0.432
1000Genomes	South Asian	Sub	978	A=0.690	G=0.310
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.768	G=0.232
The Genome Aggregation Database	African	Sub	8698	A=0.459	G=0.541
The Genome Aggregation Database	American	Sub	832	A=0.660	G=0.340
The Genome Aggregation Database	East Asian	Sub	1612	A=0.391	G=0.609
The Genome Aggregation Database	Europe	Sub	18460	A=0.778	G=0.221
The Genome Aggregation Database	Global	Study-wide	29904	A=0.660	G=0.339
The Genome Aggregation Database	Other	Sub	302	A=0.740	G=0.260
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.623	G=0.376
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.772	G=0.228

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res
18366806	Lack of association of genetic variation in chromosome region 15q14-22.1 with type 2 diabetes in a Japanese population.	Yamaguchi Y	BMC Med Genet
18311812	Genetic loci contributing to hemophagocytic lymphohistiocytosis do not confer susceptibility to systemic-onset juvenile idiopathic arthritis.	Donn R	Arthritis Rheum

P-Value

SNP ID	p-value	Traits	Study
rs4261468	0.000519	alcohol dependence	20201924

eQTL of rs4261468 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

meQTL of rs4261468 in Fetal Brain

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr15	55509604	55509722	E072	-45880
chr15	55509798	55510638	E072	-44964

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr15	55581088	55583249	E067	25486
chr15	55581088	55583249	E068	25486
chr15	55581088	55583249	E069	25486
chr15	55581088	55583249	E070	25486
chr15	55581088	55583249	E071	25486
chr15	55581088	55583249	E072	25486
chr15	55581088	55583249	E073	25486
chr15	55581088	55583249	E074	25486
chr15	55581088	55583249	E082	25486