rs34236855

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

ADAMTSL1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0144 (4218/29258,GnomAD)
A=0143 (4188/29118,TOPMED)
A=0142 (711/5008,1000G)

Position: chr9:18178316 (GRCh38.p7) (9p22.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 7 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.18178316G>A
GRCh37.p13 chr 9	NC_000009.11:g.18178314G>A

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	G=0.948	A=0.052
1000Genomes	American	Sub	694	G=0.890	A=0.110
1000Genomes	East Asian	Sub	1008	G=0.768	A=0.232
1000Genomes	Europe	Sub	1006	G=0.818	A=0.182
1000Genomes	Global	Study-wide	5008	G=0.858	A=0.142
1000Genomes	South Asian	Sub	978	G=0.850	A=0.150
The Genome Aggregation Database	African	Sub	8468	G=0.921	A=0.079
The Genome Aggregation Database	American	Sub	824	G=0.890	A=0.110
The Genome Aggregation Database	East Asian	Sub	1578	G=0.779	A=0.221
The Genome Aggregation Database	Europe	Sub	18088	G=0.832	A=0.167
The Genome Aggregation Database	Global	Study-wide	29258	G=0.855	A=0.144
The Genome Aggregation Database	Other	Sub	300	G=0.740	A=0.260
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.856	A=0.143

PMID	Title	Author	Journal
24962325	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Kapoor M	Drug Alcohol Depend

P-Value

SNP ID	p-value	Traits	Study
rs34236855	9.49E-06	alcohol dependence (age at onset)	24962325

eQTL of rs34236855 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 rs34236855 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	18213006	18213587	E067	34692
chr9	18189900	18190629	E068	11586
chr9	18190783	18190945	E068	12469
chr9	18189757	18189811	E070	11443
chr9	18189819	18189877	E070	11505
chr9	18189900	18190629	E070	11586
chr9	18189900	18190629	E074	11586