SNP Detail Info-rs1241182

Organism: Homo sapiens

Alleles: A>C

Gene : Feature

COL11A1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0097 (2903/29938,GnomAD)
C=0111 (3254/29118,TOPMED)
C=0099 (494/5008,1000G)
C=0071 (274/3854,ALSPAC)
C=0083 (306/3708,TWINSUK)

Position: chr1:102882544 (GRCh38.p7) (1p21.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
COL11A1 transcript variant E	NM_001190709.1:c.	N/A	Intron Variant
COL11A1 transcript variant A	NM_001854.3:c.	N/A	Intron Variant
COL11A1 transcript variant B	NM_080629.2:c.	N/A	Intron Variant
COL11A1 transcript variant C	NM_080630.3:c.	N/A	Intron Variant
COL11A1 transcript variant F	NR_134980.1:n.	N/A	Intron Variant
COL11A1 transcript variant X1	XM_017000334.1:c.	N/A	Intron Variant
COL11A1 transcript variant X2	XM_017000335.1:c.	N/A	Intron Variant
COL11A1 transcript variant X4	XM_017000337.1:c.	N/A	Intron Variant
COL11A1 transcript variant X3	XM_017000336.1:c.	N/A	Genic Downstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.822	C=0.178
1000Genomes	American	Sub	694	A=0.930	C=0.070
1000Genomes	East Asian	Sub	1008	A=0.934	C=0.066
1000Genomes	Europe	Sub	1006	A=0.892	C=0.108
1000Genomes	Global	Study-wide	5008	A=0.901	C=0.099
1000Genomes	South Asian	Sub	978	A=0.960	C=0.040
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.929	C=0.071
The Genome Aggregation Database	African	Sub	8714	A=0.863	C=0.137
The Genome Aggregation Database	American	Sub	838	A=0.910	C=0.090
The Genome Aggregation Database	East Asian	Sub	1616	A=0.917	C=0.083
The Genome Aggregation Database	Europe	Sub	18468	A=0.922	C=0.078
The Genome Aggregation Database	Global	Study-wide	29938	A=0.903	C=0.097
The Genome Aggregation Database	Other	Sub	302	A=0.800	C=0.200
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.888	C=0.111
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.917	C=0.083

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

SNP ID	p-value	Traits	Study
rs1241182	0.0002	alcohol dependence(early age of onset)	20201924
rs1241182	0.00043	alcohol dependence	20201924

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

rs1241182