SNP Detail Info-rs10913569

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==0281 (8435/29964,GnomAD)
A==0354 (10307/29118,TOPMED)
A==0306 (1531/5008,1000G)
A==0120 (461/3854,ALSPAC)
A==0121 (449/3708,TWINSUK)

Position: chr1:178548873 (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.178548873A>G
GRCh37.p13 chr 1	NC_000001.10:g.178518008A>G

Molecule type	Change	Amino acid[Codon]	SO Term
C1orf220 transcript	NR_033186.1:n.256...NR_033186.1:n.2561A>G	A>G	Non Coding Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.707	G=0.293
1000Genomes	American	Sub	694	A=0.300	G=0.700
1000Genomes	East Asian	Sub	1008	A=0.094	G=0.906
1000Genomes	Europe	Sub	1006	A=0.135	G=0.865
1000Genomes	Global	Study-wide	5008	A=0.306	G=0.694
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=0.120	G=0.880
The Genome Aggregation Database	African	Sub	8708	A=0.622	G=0.378
The Genome Aggregation Database	American	Sub	838	A=0.300	G=0.700
The Genome Aggregation Database	East Asian	Sub	1622	A=0.112	G=0.888
The Genome Aggregation Database	Europe	Sub	18494	A=0.137	G=0.862
The Genome Aggregation Database	Global	Study-wide	29964	A=0.281	G=0.718
The Genome Aggregation Database	Other	Sub	302	A=0.150	G=0.850
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.354	G=0.646
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
rs10913569	9.22E-07	alcohol dependence	20202923

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr1:178518008	C1orf220	ENSG00000213057.4	A>G	3.1714e-6	6121	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	-15988
chr1	178512846	178512896	E067	-5112
chr1	178544838	178545503	E067	26830
chr1	178501218	178502020	E068	-15988
chr1	178505896	178507227	E068	-10781
chr1	178544838	178545503	E068	26830
chr1	178550168	178550331	E068	32160
chr1	178550537	178551035	E068	32529
chr1	178501218	178502020	E069	-15988
chr1	178505896	178507227	E069	-10781
chr1	178510556	178510627	E069	-7381
chr1	178547482	178547545	E070	29474
chr1	178549969	178550080	E070	31961
chr1	178550168	178550331	E070	32160
chr1	178550537	178551035	E070	32529
chr1	178551421	178551532	E070	33413
chr1	178551736	178551820	E070	33728
chr1	178501218	178502020	E071	-15988
chr1	178510556	178510627	E071	-7381
chr1	178533273	178533505	E071	15265
chr1	178533582	178533798	E071	15574
chr1	178501218	178502020	E072	-15988
chr1	178501218	178502020	E073	-15988
chr1	178501218	178502020	E074	-15988
chr1	178497494	178498023	E081	-19985
chr1	178498087	178498371	E081	-19637
chr1	178498591	178498780	E081	-19228
chr1	178498781	178499157	E081	-18851
chr1	178499168	178499527	E081	-18481
chr1	178501218	178502020	E081	-15988
chr1	178502525	178502623	E081	-15385
chr1	178505896	178507227	E081	-10781
chr1	178550537	178551035	E081	32529
chr1	178497494	178498023	E082	-19985
chr1	178498087	178498371	E082	-19637
chr1	178499168	178499527	E082	-18481
chr1	178499709	178500076	E082	-17932
chr1	178514570	178514635	E082	-3373
chr1	178550537	178551035	E082	32529

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	178511125	178512725	E067	-5283
chr1	178511125	178512725	E068	-5283
chr1	178511125	178512725	E069	-5283
chr1	178511125	178512725	E070	-5283
chr1	178511125	178512725	E071	-5283
chr1	178511125	178512725	E072	-5283
chr1	178511125	178512725	E073	-5283
chr1	178511125	178512725	E074	-5283
chr1	178511125	178512725	E081	-5283
chr1	178511125	178512725	E082	-5283

rs10913569