SNP Detail Info-rs12453814

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

DNAH2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0055 (1656/29850,GnomAD)
G=0063 (1856/29118,TOPMED)
G=0080 (403/5008,1000G)
G=0017 (67/3854,ALSPAC)
G=0018 (66/3708,TWINSUK)

Position: chr17:7761975 (GRCh38.p7) (17p13.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 34 Enhancers around

Promoter: 9 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 17	NC_000017.11:g.7761975A>G
GRCh37.p13 chr 17	NC_000017.10:g.7665293A>G

Molecule type	Change	Amino acid[Codon]	SO Term
DNAH2 transcript variant 1	NM_020877.3:c.	N/A	Intron Variant
DNAH2 transcript variant 2	NM_001303270.1:c.	N/A	Genic Downstream Transcript Variant
DNAH2 transcript variant X3	XM_011523663.1:c.	N/A	Intron Variant
DNAH2 transcript variant X2	XM_011523664.2:c.	N/A	Intron Variant
DNAH2 transcript variant X3	XM_011523666.1:c.	N/A	Intron Variant
DNAH2 transcript variant X6	XM_011523667.2:c.	N/A	Intron Variant
DNAH2 transcript variant X5	XM_011523668.1:c.	N/A	Intron Variant
DNAH2 transcript variant X7	XM_011523669.2:c.	N/A	Intron Variant
DNAH2 transcript variant X11	XM_011523670.2:c.	N/A	Intron Variant
DNAH2 transcript variant X6	XM_017024218.1:c.	N/A	Intron Variant
DNAH2 transcript variant X10	XM_017024219.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.902	G=0.098
1000Genomes	American	Sub	694	A=0.840	G=0.160
1000Genomes	East Asian	Sub	1008	A=0.895	G=0.105
1000Genomes	Europe	Sub	1006	A=0.978	G=0.022
1000Genomes	Global	Study-wide	5008	A=0.920	G=0.080
1000Genomes	South Asian	Sub	978	A=0.970	G=0.030
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.983	G=0.017
The Genome Aggregation Database	African	Sub	8702	A=0.914	G=0.086
The Genome Aggregation Database	American	Sub	836	A=0.850	G=0.150
The Genome Aggregation Database	East Asian	Sub	1620	A=0.914	G=0.086
The Genome Aggregation Database	Europe	Sub	18390	A=0.965	G=0.034
The Genome Aggregation Database	Global	Study-wide	29850	A=0.944	G=0.055
The Genome Aggregation Database	Other	Sub	302	A=0.970	G=0.030
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.936	G=0.063
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.982	G=0.018

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
rs12453814	0.000481	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 )
chr17	7619184	7619480	E067	-45813
chr17	7619184	7619480	E069	-45813
chr17	7643477	7643988	E069	-21305
chr17	7644029	7644276	E069	-21017
chr17	7618452	7618492	E070	-46801
chr17	7618508	7618558	E070	-46735
chr17	7618731	7618875	E070	-46418
chr17	7623139	7623190	E070	-42103
chr17	7623200	7623255	E070	-42038
chr17	7623293	7623353	E070	-41940
chr17	7623526	7623740	E070	-41553
chr17	7619184	7619480	E072	-45813
chr17	7623139	7623190	E073	-42103
chr17	7616842	7617443	E081	-47850
chr17	7617819	7617907	E081	-47386
chr17	7618452	7618492	E081	-46801
chr17	7618508	7618558	E081	-46735
chr17	7618731	7618875	E081	-46418
chr17	7619184	7619480	E081	-45813
chr17	7622931	7622998	E081	-42295
chr17	7623139	7623190	E081	-42103
chr17	7623200	7623255	E081	-42038
chr17	7623293	7623353	E081	-41940
chr17	7623526	7623740	E081	-41553
chr17	7669591	7669641	E081	4298
chr17	7669764	7669823	E081	4471
chr17	7670366	7670460	E081	5073
chr17	7670500	7670554	E081	5207
chr17	7670636	7671345	E081	5343
chr17	7623139	7623190	E082	-42103
chr17	7623200	7623255	E082	-42038
chr17	7623293	7623353	E082	-41940
chr17	7623526	7623740	E082	-41553
chr17	7670636	7671345	E082	5343

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr17	7619527	7621942	E067	-43351
chr17	7619527	7621942	E068	-43351
chr17	7619527	7621942	E069	-43351
chr17	7619527	7621942	E070	-43351
chr17	7619527	7621942	E071	-43351
chr17	7619527	7621942	E072	-43351
chr17	7619527	7621942	E073	-43351
chr17	7619527	7621942	E074	-43351
chr17	7619527	7621942	E082	-43351

rs12453814