SNP Detail Info-rs3804766

Organism: Homo sapiens

Alleles: A>C

Gene : Feature

RBM15B : Synonymous Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0090 (10689/117768,ExAC)
C=0070 (2098/29918,GnomAD)
C=0084 (2453/29118,TOPMED)
A==0044 (579/13004,GO-ESP)
C=0148 (743/5008,1000G)
C=0020 (76/3854,ALSPAC)
C=0014 (53/3708,TWINSUK)

Position: chr3:51393226 (GRCh38.p7) (3p21.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 3	NC_000003.12:g.51393226A>C
GRCh37.p13 chr 3 fix patch HG186_PATCH	NW_003315910.1:g.14549A>C
GRCh37.p13 chr 3	NC_000003.11:g.51430657A>C

Gene: RBM15B, RNA binding motif protein 15B(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RBM15B transcript	NM_013286.4:c.182...NM_013286.4:c.1827A>C	S [TCA]> S [TCC]	Coding Sequence Variant
putative RNA-binding protein 15B	NP_037418.3:p.Ser...NP_037418.3:p.Ser609=	S [Ser]> S [Ser]	Synonymous Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.883	C=0.117
1000Genomes	American	Sub	694	A=0.760	C=0.240
1000Genomes	East Asian	Sub	1008	A=0.647	C=0.353
1000Genomes	Europe	Sub	1006	A=0.980	C=0.020
1000Genomes	Global	Study-wide	5008	A=0.852	C=0.148
1000Genomes	South Asian	Sub	978	A=0.960	C=0.040
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.980	C=0.020
The Genome Aggregation Database	African	Sub	8704	A=0.906	C=0.094
The Genome Aggregation Database	American	Sub	838	A=0.640	C=0.360
The Genome Aggregation Database	East Asian	Sub	1612	A=0.659	C=0.341
The Genome Aggregation Database	Europe	Sub	18462	A=0.977	C=0.023
The Genome Aggregation Database	Global	Study-wide	29918	A=0.929	C=0.070
The Genome Aggregation Database	Other	Sub	302	A=0.980	C=0.020
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.915	C=0.084
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.986	C=0.014

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

P-Value

SNP ID	p-value	Traits	Study
rs3804766	0.000127	alcohol dependence	20201924

eQTL of rs3804766 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 rs3804766 in Fetal Brain

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

rs3804766