SNP Detail Info-rs11071175

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

RAB27A : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0444 (13213/29702,GnomAD)
A==0392 (11421/29118,TOPMED)
A==0361 (1808/5008,1000G)
G=0471 (1814/3854,ALSPAC)
G=0475 (1760/3708,TWINSUK)

Position: chr15:55268227 (GRCh38.p7) (15q21.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 2 publication(s)

Genomic View: See rs on genome

Enhancer: 29 Enhancers around

Promoter: 9 Promoters around

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

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.200	G=0.800
1000Genomes	American	Sub	694	A=0.380	G=0.620
1000Genomes	East Asian	Sub	1008	A=0.242	G=0.758
1000Genomes	Europe	Sub	1006	A=0.531	G=0.469
1000Genomes	Global	Study-wide	5008	A=0.361	G=0.639
1000Genomes	South Asian	Sub	978	A=0.510	G=0.490
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.529	G=0.471
The Genome Aggregation Database	African	Sub	8646	A=0.256	G=0.744
The Genome Aggregation Database	American	Sub	834	A=0.370	G=0.630
The Genome Aggregation Database	East Asian	Sub	1614	A=0.232	G=0.768
The Genome Aggregation Database	Europe	Sub	18306	A=0.556	G=0.443
The Genome Aggregation Database	Global	Study-wide	29702	A=0.444	G=0.555
The Genome Aggregation Database	Other	Sub	302	A=0.440	G=0.560
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.392	G=0.607
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.525	G=0.475

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res
18311812	Genetic loci contributing to hemophagocytic lymphohistiocytosis do not confer susceptibility to systemic-onset juvenile idiopathic arthritis.	Donn R	Arthritis Rheum

SNP ID	p-value	Traits	Study
rs11071175	0.000765	alcohol dependence	20201924

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 )
chr15	55609052	55609118	E067	48627
chr15	55609719	55609774	E067	49294
chr15	55609810	55609850	E067	49385
chr15	55609868	55609938	E067	49443
chr15	55609969	55610019	E067	49544
chr15	55609810	55609850	E068	49385
chr15	55609868	55609938	E068	49443
chr15	55609969	55610019	E068	49544
chr15	55610021	55610103	E068	49596
chr15	55610176	55610285	E068	49751
chr15	55609810	55609850	E069	49385
chr15	55609868	55609938	E069	49443
chr15	55609969	55610019	E069	49544
chr15	55609810	55609850	E073	49385
chr15	55609868	55609938	E073	49443
chr15	55609969	55610019	E073	49544
chr15	55610021	55610103	E073	49596
chr15	55610176	55610285	E073	49751
chr15	55609719	55609774	E074	49294
chr15	55609810	55609850	E074	49385
chr15	55609868	55609938	E074	49443
chr15	55609969	55610019	E074	49544
chr15	55610021	55610103	E074	49596
chr15	55610176	55610285	E074	49751
chr15	55609810	55609850	E081	49385
chr15	55609868	55609938	E081	49443
chr15	55609969	55610019	E081	49544
chr15	55610021	55610103	E081	49596
chr15	55610176	55610285	E081	49751

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr15	55581088	55583249	E067	20663
chr15	55581088	55583249	E068	20663
chr15	55581088	55583249	E069	20663
chr15	55581088	55583249	E070	20663
chr15	55581088	55583249	E071	20663
chr15	55581088	55583249	E072	20663
chr15	55581088	55583249	E073	20663
chr15	55581088	55583249	E074	20663
chr15	55581088	55583249	E082	20663

rs11071175