SNP Detail Info-rs4233175

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

C1orf220 : Non Coding Transcript Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0244 (7308/29950,GnomAD)
A==0295 (8599/29118,TOPMED)
A==0267 (1336/5008,1000G)
A==0119 (458/3854,ALSPAC)
A==0121 (450/3708,TWINSUK)

Position: chr1:178548456 (GRCh38.p7) (1q25.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 39 Enhancers around

Promoter: 10 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.178548456A>G
GRCh37.p13 chr 1	NC_000001.10:g.178517591A>G

Molecule type	Change	Amino acid[Codon]	SO Term
C1orf220 transcript	NR_033186.1:n.214...NR_033186.1:n.2144A>G	A>G	Non Coding Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.566	G=0.434
1000Genomes	American	Sub	694	A=0.280	G=0.720
1000Genomes	East Asian	Sub	1008	A=0.094	G=0.906
1000Genomes	Europe	Sub	1006	A=0.136	G=0.864
1000Genomes	Global	Study-wide	5008	A=0.267	G=0.733
1000Genomes	South Asian	Sub	978	A=0.160	G=0.840
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.119	G=0.881
The Genome Aggregation Database	African	Sub	8704	A=0.495	G=0.505
The Genome Aggregation Database	American	Sub	838	A=0.290	G=0.710
The Genome Aggregation Database	East Asian	Sub	1620	A=0.111	G=0.889
The Genome Aggregation Database	Europe	Sub	18486	A=0.137	G=0.863
The Genome Aggregation Database	Global	Study-wide	29950	A=0.244	G=0.756
The Genome Aggregation Database	Other	Sub	302	A=0.150	G=0.850
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.295	G=0.704
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.121	G=0.879

PMID	Title	Author	Journal
20202923	A genome-wide association study of alcohol dependence.	Bierut LJ	Proc Natl Acad Sci U S A

SNP ID	p-value	Traits	Study
rs4233175	3.78E-06	alcohol dependence	20202923

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr1:178517591	C1orf220	ENSG00000213057.4	A>G	3.1714e-6	5704	Cerebellum

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr1	178501218	178502020	E067	-15571
chr1	178512846	178512896	E067	-4695
chr1	178544838	178545503	E067	27247
chr1	178501218	178502020	E068	-15571
chr1	178505896	178507227	E068	-10364
chr1	178544838	178545503	E068	27247
chr1	178550168	178550331	E068	32577
chr1	178550537	178551035	E068	32946
chr1	178501218	178502020	E069	-15571
chr1	178505896	178507227	E069	-10364
chr1	178510556	178510627	E069	-6964
chr1	178547482	178547545	E070	29891
chr1	178549969	178550080	E070	32378
chr1	178550168	178550331	E070	32577
chr1	178550537	178551035	E070	32946
chr1	178551421	178551532	E070	33830
chr1	178551736	178551820	E070	34145
chr1	178501218	178502020	E071	-15571
chr1	178510556	178510627	E071	-6964
chr1	178533273	178533505	E071	15682
chr1	178533582	178533798	E071	15991
chr1	178501218	178502020	E072	-15571
chr1	178501218	178502020	E073	-15571
chr1	178501218	178502020	E074	-15571
chr1	178497494	178498023	E081	-19568
chr1	178498087	178498371	E081	-19220
chr1	178498591	178498780	E081	-18811
chr1	178498781	178499157	E081	-18434
chr1	178499168	178499527	E081	-18064
chr1	178501218	178502020	E081	-15571
chr1	178502525	178502623	E081	-14968
chr1	178505896	178507227	E081	-10364
chr1	178550537	178551035	E081	32946
chr1	178497494	178498023	E082	-19568
chr1	178498087	178498371	E082	-19220
chr1	178499168	178499527	E082	-18064
chr1	178499709	178500076	E082	-17515
chr1	178514570	178514635	E082	-2956
chr1	178550537	178551035	E082	32946

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	178511125	178512725	E067	-4866
chr1	178511125	178512725	E068	-4866
chr1	178511125	178512725	E069	-4866
chr1	178511125	178512725	E070	-4866
chr1	178511125	178512725	E071	-4866
chr1	178511125	178512725	E072	-4866
chr1	178511125	178512725	E073	-4866
chr1	178511125	178512725	E074	-4866
chr1	178511125	178512725	E081	-4866
chr1	178511125	178512725	E082	-4866

rs4233175