SNP Detail Info-rs993452

Organism: Homo sapiens

Alleles: T>C

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0134 (4028/29898,GnomAD)
C=0165 (4816/29118,TOPMED)
C=0128 (640/5008,1000G)
C=0105 (405/3854,ALSPAC)
C=0104 (387/3708,TWINSUK)

Position: chr13:87109921 (GRCh38.p7) (13q31.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 9 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 13	NC_000013.11:g.87109921T>C
GRCh37.p13 chr 13	NC_000013.10:g.87762176T>C

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.745	C=0.255
1000Genomes	American	Sub	694	T=0.920	C=0.080
1000Genomes	East Asian	Sub	1008	T=0.968	C=0.032
1000Genomes	Europe	Sub	1006	T=0.905	C=0.095
1000Genomes	Global	Study-wide	5008	T=0.872	C=0.128
1000Genomes	South Asian	Sub	978	T=0.880	C=0.120
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.895	C=0.105
The Genome Aggregation Database	African	Sub	8706	T=0.742	C=0.258
The Genome Aggregation Database	American	Sub	836	T=0.920	C=0.080
The Genome Aggregation Database	East Asian	Sub	1614	T=0.954	C=0.046
The Genome Aggregation Database	Europe	Sub	18440	T=0.913	C=0.086
The Genome Aggregation Database	Global	Study-wide	29898	T=0.865	C=0.134
The Genome Aggregation Database	Other	Sub	302	T=0.840	C=0.160
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.834	C=0.165
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.896	C=0.104

PMID	Title	Author	Journal
23743675	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Kapoor M	Hum Genet

SNP ID	p-value	Traits	Study
rs993452	7.63E-05	alcohol consumption	23743675

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr13:87762176	SLITRK5	ENSG00000165300.6	T>C	7.2166e-3	-562694	Cerebellar_Hemisphere

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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr13	87780751	87780970	E070	18575
chr13	87780990	87781070	E070	18814
chr13	87781139	87781194	E070	18963
chr13	87781361	87781523	E070	19185
chr13	87781609	87781698	E070	19433
chr13	87781897	87782225	E070	19721
chr13	87782248	87782420	E070	20072
chr13	87782730	87782844	E070	20554
chr13	87783996	87784117	E070	21820

rs993452