SNP Detail Info-rs13421680

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

ERBB4 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0356 (10657/29894,GnomAD)
G=0420 (12242/29118,TOPMED)
G=0365 (1830/5008,1000G)
G=0254 (978/3854,ALSPAC)
G=0245 (907/3708,TWINSUK)

Position: chr2:211551304 (GRCh38.p7) (2q34)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 9 Enhancers around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
ERBB4 transcript variant JM-a/CVT-2	NM_001042599.1:c.	N/A	Intron Variant
ERBB4 transcript variant JM-a/CVT-1	NM_005235.2:c.	N/A	Intron Variant
ERBB4 transcript variant X7	XM_005246376.2:c.	N/A	Intron Variant
ERBB4 transcript variant X8	XM_005246377.2:c.	N/A	Intron Variant
ERBB4 transcript variant X5	XM_006712364.2:c.	N/A	Intron Variant
ERBB4 transcript variant X1	XM_017003577.1:c.	N/A	Intron Variant
ERBB4 transcript variant X2	XM_017003578.1:c.	N/A	Intron Variant
ERBB4 transcript variant X3	XM_017003579.1:c.	N/A	Intron Variant
ERBB4 transcript variant X4	XM_017003580.1:c.	N/A	Intron Variant
ERBB4 transcript variant X6	XM_017003581.1:c.	N/A	Intron Variant
ERBB4 transcript variant X9	XM_017003582.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.298	G=0.702
1000Genomes	American	Sub	694	A=0.760	G=0.240
1000Genomes	East Asian	Sub	1008	A=0.808	G=0.192
1000Genomes	Europe	Sub	1006	A=0.762	G=0.238
1000Genomes	Global	Study-wide	5008	A=0.635	G=0.365
1000Genomes	South Asian	Sub	978	A=0.690	G=0.310
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.746	G=0.254
The Genome Aggregation Database	African	Sub	8666	A=0.363	G=0.637
The Genome Aggregation Database	American	Sub	836	A=0.770	G=0.230
The Genome Aggregation Database	East Asian	Sub	1618	A=0.790	G=0.210
The Genome Aggregation Database	Europe	Sub	18472	A=0.755	G=0.244
The Genome Aggregation Database	Global	Study-wide	29894	A=0.643	G=0.356
The Genome Aggregation Database	Other	Sub	302	A=0.690	G=0.310
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.579	G=0.420
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.755	G=0.245

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
rs13421680	0.000442	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 )
chr2	212399397	212399669	E068	-16360
chr2	212399397	212399669	E069	-16360
chr2	212399397	212399669	E070	-16360
chr2	212374449	212374745	E071	-41284
chr2	212377536	212377805	E071	-38224
chr2	212374449	212374745	E074	-41284
chr2	212398804	212398904	E074	-17125
chr2	212399397	212399669	E074	-16360
chr2	212399397	212399669	E081	-16360

rs13421680