rs4580006

Organism: Homo sapiens

Alleles: T>A

Gene : Feature

DHX37 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T==0282 (8452/29888,GnomAD)
T==0298 (8684/29118,TOPMED)
T==0229 (1148/5008,1000G)
T==0369 (1422/3854,ALSPAC)
T==0367 (1360/3708,TWINSUK)

Position: chr12:124976121 (GRCh38.p7) (12q24.31)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 25 Enhancers around

Promoter: 43 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.124976121T>A
GRCh37.p13 chr 12	NC_000012.11:g.125460667T>A

Molecule type	Change	Amino acid[Codon]	SO Term
DHX37 transcript	NM_032656.3:c.	N/A	Intron Variant
DHX37 transcript variant X1	XM_005253590.3:c.	N/A	Intron Variant
DHX37 transcript variant X3	XM_011538598.2:c.	N/A	Intron Variant
DHX37 transcript variant X5	XM_011538600.2:c.	N/A	Intron Variant
DHX37 transcript variant X2	XR_001748819.1:n.	N/A	Intron Variant
DHX37 transcript variant X4	XR_001748820.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.202	A=0.798
1000Genomes	American	Sub	694	T=0.380	A=0.620
1000Genomes	East Asian	Sub	1008	T=0.108	A=0.892
1000Genomes	Europe	Sub	1006	T=0.346	A=0.654
1000Genomes	Global	Study-wide	5008	T=0.229	A=0.771
1000Genomes	South Asian	Sub	978	T=0.160	A=0.840
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.369	A=0.631
The Genome Aggregation Database	African	Sub	8714	T=0.226	A=0.774
The Genome Aggregation Database	American	Sub	838	T=0.350	A=0.650
The Genome Aggregation Database	East Asian	Sub	1612	T=0.112	A=0.888
The Genome Aggregation Database	Europe	Sub	18422	T=0.320	A=0.679
The Genome Aggregation Database	Global	Study-wide	29888	T=0.282	A=0.717
The Genome Aggregation Database	Other	Sub	302	T=0.370	A=0.630
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.298	A=0.701
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.367	A=0.633

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
rs4580006	0.000286	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

There is no significant Hi-C chromatin interaction data for this SNP.

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr12	125480214	125480497	E067	19547
chr12	125480544	125480611	E067	19877
chr12	125480214	125480497	E068	19547
chr12	125500318	125500396	E068	39651
chr12	125499859	125499909	E069	39192
chr12	125480214	125480497	E071	19547
chr12	125480544	125480611	E071	19877
chr12	125463982	125464032	E072	3315
chr12	125464212	125464319	E072	3545
chr12	125464323	125464393	E072	3656
chr12	125471983	125472091	E072	11316
chr12	125472097	125472274	E072	11430
chr12	125472431	125472504	E072	11764
chr12	125499859	125499909	E072	39192
chr12	125480214	125480497	E073	19547
chr12	125480544	125480611	E073	19877
chr12	125499605	125499664	E073	38938
chr12	125480214	125480497	E074	19547
chr12	125481043	125481093	E074	20376
chr12	125500318	125500396	E074	39651
chr12	125499605	125499664	E081	38938
chr12	125499859	125499909	E081	39192
chr12	125500318	125500396	E081	39651
chr12	125472097	125472274	E082	11430
chr12	125472431	125472504	E082	11764

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr12	125411505	125414287	E067	-46380
chr12	125422598	125425864	E067	-34803
chr12	125473209	125474087	E067	12542
chr12	125477257	125479597	E067	16590
chr12	125500419	125500853	E067	39752
chr12	125411505	125414287	E068	-46380
chr12	125422598	125425864	E068	-34803
chr12	125473209	125474087	E068	12542
chr12	125477257	125479597	E068	16590
chr12	125500419	125500853	E068	39752
chr12	125411505	125414287	E069	-46380
chr12	125422598	125425864	E069	-34803
chr12	125473209	125474087	E069	12542
chr12	125477257	125479597	E069	16590
chr12	125500419	125500853	E069	39752
chr12	125411505	125414287	E070	-46380
chr12	125422598	125425864	E070	-34803
chr12	125477257	125479597	E070	16590
chr12	125411505	125414287	E071	-46380
chr12	125422598	125425864	E071	-34803
chr12	125473209	125474087	E071	12542
chr12	125477257	125479597	E071	16590
chr12	125500419	125500853	E071	39752
chr12	125411505	125414287	E072	-46380
chr12	125422598	125425864	E072	-34803
chr12	125473209	125474087	E072	12542
chr12	125477257	125479597	E072	16590
chr12	125500419	125500853	E072	39752
chr12	125411505	125414287	E073	-46380
chr12	125422598	125425864	E073	-34803
chr12	125473209	125474087	E073	12542
chr12	125477257	125479597	E073	16590
chr12	125500419	125500853	E073	39752
chr12	125411505	125414287	E074	-46380
chr12	125422598	125425864	E074	-34803
chr12	125473209	125474087	E074	12542
chr12	125477257	125479597	E074	16590
chr12	125411505	125414287	E081	-46380
chr12	125422598	125425864	E081	-34803
chr12	125411505	125414287	E082	-46380
chr12	125422598	125425864	E082	-34803
chr12	125473209	125474087	E082	12542
chr12	125477257	125479597	E082	16590