SNP Detail Info-rs10494868

Organism: Homo sapiens

Alleles: C>A

Gene : Feature

MALRD1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0086 (2588/29952,GnomAD)
A=0097 (2826/29118,TOPMED)
A=0084 (420/5008,1000G)
A=0092 (353/3854,ALSPAC)
A=0099 (366/3708,TWINSUK)

Position: chr10:19518946 (GRCh38.p7) (10p12.31)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 3 Enhancers around

Promoter: 15 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 10	NC_000010.11:g.19518946C>A
GRCh37.p13 chr 10	NC_000010.10:g.19807875C>A

Molecule type	Change	Amino acid[Codon]	SO Term
MALRD1 transcript	NM_001142308.2:c.	N/A	Intron Variant
MALRD1 transcript variant X1	XM_011519453.2:c.	N/A	Intron Variant
MALRD1 transcript variant X2	XM_011519454.1:c.	N/A	Intron Variant
MALRD1 transcript variant X3	XM_011519455.2:c.	N/A	Intron Variant
MALRD1 transcript variant X4	XM_017016182.1:c.	N/A	Intron Variant
MALRD1 transcript variant X5	XM_017016183.1:c.	N/A	Intron Variant
MALRD1 transcript variant X7	XM_017016184.1:c.	N/A	Intron Variant
MALRD1 transcript variant X8	XM_017016185.1:c.	N/A	Intron Variant
MALRD1 transcript variant X9	XM_017016186.1:c.	N/A	Intron Variant
MALRD1 transcript variant X6	XR_001747102.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.960	A=0.040
1000Genomes	American	Sub	694	C=0.910	A=0.090
1000Genomes	East Asian	Sub	1008	C=0.890	A=0.110
1000Genomes	Europe	Sub	1006	C=0.917	A=0.083
1000Genomes	Global	Study-wide	5008	C=0.916	A=0.084
1000Genomes	South Asian	Sub	978	C=0.890	A=0.110
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.908	A=0.092
The Genome Aggregation Database	African	Sub	8718	C=0.933	A=0.067
The Genome Aggregation Database	American	Sub	834	C=0.880	A=0.120
The Genome Aggregation Database	East Asian	Sub	1618	C=0.876	A=0.124
The Genome Aggregation Database	Europe	Sub	18480	C=0.909	A=0.090
The Genome Aggregation Database	Global	Study-wide	29952	C=0.913	A=0.086
The Genome Aggregation Database	Other	Sub	302	C=0.900	A=0.100
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.902	A=0.097
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.901	A=0.099

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

SNP ID	p-value	Traits	Study
rs10494868	0.00064	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 )
chr10	19852354	19852615	E070	44479
chr10	19852354	19852615	E081	44479
chr10	19852902	19852969	E081	45027

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr10	19777603	19777755	E068	-30120
chr10	19777774	19778305	E068	-29570
chr10	19777603	19777755	E071	-30120
chr10	19777774	19778305	E071	-29570
chr10	19778309	19778435	E071	-29440
chr10	19777774	19778305	E072	-29570
chr10	19778309	19778435	E072	-29440
chr10	19777774	19778305	E073	-29570
chr10	19778309	19778435	E073	-29440
chr10	19777774	19778305	E074	-29570
chr10	19778309	19778435	E074	-29440
chr10	19777774	19778305	E081	-29570
chr10	19778309	19778435	E081	-29440
chr10	19777603	19777755	E082	-30120
chr10	19777774	19778305	E082	-29570

rs10494868