SNP Detail Info-rs12892340

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

SERPINA9 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0341 (10156/29780,GnomAD)
A=0303 (8848/29118,TOPMED)
A=0284 (1420/5008,1000G)
A=0408 (1573/3854,ALSPAC)
A=0414 (1534/3708,TWINSUK)

Position: chr14:94467839 (GRCh38.p7) (14q32.13)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 13 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 14	NC_000014.9:g.94467839G>A
GRCh37.p13 chr 14	NC_000014.8:g.94934176G>A

Molecule type	Change	Amino acid[Codon]	SO Term
SERPINA9 transcript variant 2	NM_001042518.1:c.	N/A	Intron Variant
SERPINA9 transcript variant 3	NM_001284275.1:c.	N/A	Intron Variant
SERPINA9 transcript variant 4	NM_001284276.1:c.	N/A	Intron Variant
SERPINA9 transcript variant 1	NM_175739.3:c.	N/A	Intron Variant
SERPINA9 transcript variant X1	XM_011536714.2:c.	N/A	Intron Variant
SERPINA9 transcript variant X2	XM_011536715.2:c.	N/A	Intron Variant
SERPINA9 transcript variant X3	XM_011536716.2:c.	N/A	Intron Variant
SERPINA9 transcript variant X4	XM_011536717.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.836	A=0.164
1000Genomes	American	Sub	694	G=0.720	A=0.280
1000Genomes	East Asian	Sub	1008	G=0.828	A=0.172
1000Genomes	Europe	Sub	1006	G=0.546	A=0.454
1000Genomes	Global	Study-wide	5008	G=0.716	A=0.284
1000Genomes	South Asian	Sub	978	G=0.610	A=0.390
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.592	A=0.408
The Genome Aggregation Database	African	Sub	8650	G=0.797	A=0.203
The Genome Aggregation Database	American	Sub	834	G=0.730	A=0.270
The Genome Aggregation Database	East Asian	Sub	1612	G=0.830	A=0.170
The Genome Aggregation Database	Europe	Sub	18386	G=0.575	A=0.424
The Genome Aggregation Database	Global	Study-wide	29780	G=0.659	A=0.341
The Genome Aggregation Database	Other	Sub	298	G=0.680	A=0.320
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.696	A=0.303
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.586	A=0.414

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
rs12892340	0.000893	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 )
chr14	94952331	94953489	E067	18155
chr14	94954313	94954381	E069	20137
chr14	94917807	94918241	E070	-15935
chr14	94918285	94918645	E070	-15531
chr14	94952331	94953489	E071	18155
chr14	94952331	94953489	E072	18155
chr14	94952331	94953489	E074	18155
chr14	94952331	94953489	E081	18155
chr14	94953501	94953576	E081	19325
chr14	94953645	94953695	E081	19469
chr14	94953860	94953910	E081	19684
chr14	94954313	94954381	E081	20137
chr14	94952331	94953489	E082	18155

rs12892340