rs763976

Organism: Homo sapiens

Alleles: A>C

Gene : Feature

ADAMTSL1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0154 (4639/29958,GnomAD)
C=0151 (4397/29118,TOPMED)
C=0155 (774/5008,1000G)
C=0205 (789/3854,ALSPAC)
C=0205 (761/3708,TWINSUK)

Position: chr9:18134916 (GRCh38.p7) (9p22.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 12 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 9	NC_000009.12:g.18134916A>C
GRCh37.p13 chr 9	NC_000009.11:g.18134914A>C

Gene: ADAMTSL1, ADAMTS like 1(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ADAMTSL1 transcript variant 4	NM_001040272.5:c.	N/A	Genic Upstream Transcript Variant
ADAMTSL1 transcript variant 2	NM_052866.4:c.	N/A	Genic Upstream Transcript Variant
ADAMTSL1 transcript variant X1	XM_011518063.2:c.	N/A	Intron Variant
ADAMTSL1 transcript variant X3	XM_011518064.2:c.	N/A	Intron Variant
ADAMTSL1 transcript variant X2	XM_017015310.1:c.	N/A	Intron Variant
ADAMTSL1 transcript variant X4	XM_017015311.1:c.	N/A	Intron Variant
ADAMTSL1 transcript variant X5	XM_017015312.1:c.	N/A	Intron Variant
ADAMTSL1 transcript variant X7	XM_017015314.1:c.	N/A	Intron Variant
ADAMTSL1 transcript variant X8	XM_011518067.1:c.	N/A	Genic Upstream Transcript Variant
ADAMTSL1 transcript variant X9	XM_011518068.2:c.	N/A	Genic Upstream Transcript Variant
ADAMTSL1 transcript variant X10	XM_011518070.2:c.	N/A	Genic Upstream Transcript Variant
ADAMTSL1 transcript variant X6	XM_017015313.1:c.	N/A	Genic Upstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.958	C=0.042
1000Genomes	American	Sub	694	A=0.870	C=0.130
1000Genomes	East Asian	Sub	1008	A=0.790	C=0.210
1000Genomes	Europe	Sub	1006	A=0.781	C=0.219
1000Genomes	Global	Study-wide	5008	A=0.845	C=0.155
1000Genomes	South Asian	Sub	978	A=0.800	C=0.200
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.795	C=0.205
The Genome Aggregation Database	African	Sub	8726	A=0.933	C=0.067
The Genome Aggregation Database	American	Sub	838	A=0.890	C=0.110
The Genome Aggregation Database	East Asian	Sub	1606	A=0.806	C=0.194
The Genome Aggregation Database	Europe	Sub	18486	A=0.807	C=0.193
The Genome Aggregation Database	Global	Study-wide	29958	A=0.845	C=0.154
The Genome Aggregation Database	Other	Sub	302	A=0.730	C=0.270
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.849	C=0.151
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.795	C=0.205

PMID	Title	Author	Journal
23089632	A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53.	Wang JC	Mol Psychiatry

P-Value

SNP ID	p-value	Traits	Study
rs763976	0.0000074	alcohol dependence	23089632
rs763976	0.00001	alcohol dependence	23089632

eQTL of rs763976 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 rs763976 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 )
chr9	18106512	18106596	E074	-28318
chr9	18106669	18106793	E074	-28121
chr9	18126928	18127002	E074	-7912
chr9	18127030	18127178	E074	-7736
chr9	18127194	18127300	E074	-7614
chr9	18127415	18127505	E074	-7409
chr9	18126928	18127002	E081	-7912
chr9	18127030	18127178	E081	-7736
chr9	18127194	18127300	E081	-7614
chr9	18127415	18127505	E081	-7409
chr9	18127556	18127809	E081	-7105
chr9	18106016	18106109	E082	-28805