SNP Detail Info-rs673320

Organism: Homo sapiens

Alleles: C>A

Gene : Feature

ADGRE1 : Intron Variant
LOC105372256 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0140 (4170/29598,GnomAD)
A=0157 (4574/29118,TOPMED)
A=0124 (623/5008,1000G)

Position: chr19:6909554 (GRCh38.p7) (19p13.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 1 Enhancer around

Promoter: 8 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 19	NC_000019.10:g.6909554C>A
GRCh37.p13 chr 19	NC_000019.9:g.6909565C>A

Molecule type	Change	Amino acid[Codon]	SO Term
ADGRE1 transcript variant 2	NM_001256252.1:c.	N/A	Intron Variant
ADGRE1 transcript variant 3	NM_001256253.1:c.	N/A	Intron Variant
ADGRE1 transcript variant 4	NM_001256254.1:c.	N/A	Intron Variant
ADGRE1 transcript variant 5	NM_001256255.1:c.	N/A	Intron Variant
ADGRE1 transcript variant 1	NM_001974.4:c.	N/A	Intron Variant
ADGRE1 transcript variant X1	XM_011527794.1:c.	N/A	Intron Variant

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105372256 transcript	XR_936288.2:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.880	A=0.120
1000Genomes	American	Sub	694	C=0.750	A=0.250
1000Genomes	East Asian	Sub	1008	C=0.996	A=0.004
1000Genomes	Europe	Sub	1006	C=0.841	A=0.159
1000Genomes	Global	Study-wide	5008	C=0.876	A=0.124
1000Genomes	South Asian	Sub	978	C=0.870	A=0.130
The Genome Aggregation Database	African	Sub	8624	C=0.875	A=0.125
The Genome Aggregation Database	American	Sub	832	C=0.800	A=0.200
The Genome Aggregation Database	East Asian	Sub	1604	C=1.000	A=0.000
The Genome Aggregation Database	Europe	Sub	18236	C=0.843	A=0.156
The Genome Aggregation Database	Global	Study-wide	29598	C=0.859	A=0.140
The Genome Aggregation Database	Other	Sub	302	C=0.760	A=0.240
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.842	A=0.157

PMID	Title	Author	Journal
21314694	Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.	Kendler KS	Alcohol Clin Exp Res

SNP ID	p-value	Traits	Study
rs673320	0.000475	alcohol dependence	21314694

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)
chr19	6862663	6863206	E068	-46359
chr19	6863321	6863940	E068	-45625
chr19	6862663	6863206	E071	-46359
chr19	6863321	6863940	E071	-45625
chr19	6862663	6863206	E072	-46359
chr19	6863321	6863940	E072	-45625
chr19	6862663	6863206	E074	-46359
chr19	6863321	6863940	E074	-45625

rs673320