rs434114

Organism: Homo sapiens

Alleles: A>C / A>G

Gene : Feature

CARS : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0313 (9328/29794,GnomAD)
G=0292 (8529/29118,TOPMED)
A==0298 (3877/13000,GO-ESP)
G=0386 (1932/5008,1000G)
G=0400 (1543/3854,ALSPAC)
G=0392 (1455/3708,TWINSUK)

Position: chr11:3028980 (GRCh38.p7) (11p15.4)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 11	NC_000011.10:g.3028980A>C
GRCh38.p7 chr 11	NC_000011.10:g.3028980A>G
GRCh37.p13 chr 11	NC_000011.9:g.3050210A>C
GRCh37.p13 chr 11	NC_000011.9:g.3050210A>G
GRCh38.p7 chr 11 alt locus HSCHR11_1_CTG7	NT_187585.1:g.260037G>A
GRCh38.p7 chr 11 alt locus HSCHR11_1_CTG7	NT_187585.1:g.260037G>C

Gene: CARS, cysteinyl-tRNA synthetase(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CARS transcript variant 3	NM_001014437.2:c.	N/A	Intron Variant
CARS transcript variant 5	NM_001194997.1:c.	N/A	Intron Variant
CARS transcript variant 2	NM_001751.5:c.	N/A	Intron Variant
CARS transcript variant 1	NM_139273.3:c.	N/A	Intron Variant
CARS transcript variant 4	NR_036542.1:n.	N/A	Intron Variant
CARS transcript variant X8	XM_006718341.3:c.	N/A	Intron Variant
CARS transcript variant X9	XM_017018389.1:c.	N/A	Intron Variant
CARS transcript variant X10	XM_017018390.1:c.	N/A	Intron Variant
CARS transcript variant X15	XM_017018391.1:c.	N/A	Intron Variant
CARS transcript variant X12	XM_017018392.1:c.	N/A	Intron Variant
CARS transcript variant X6	XR_001747995.1:n.	N/A	Intron Variant
CARS transcript variant X7	XR_001747996.1:n.	N/A	Intron Variant
CARS transcript variant X14	XR_001747997.1:n.	N/A	Intron Variant
CARS transcript variant X17	XR_001747998.1:n.	N/A	Intron Variant
CARS transcript variant X1	XR_428857.1:n.	N/A	Intron Variant
CARS transcript variant X7	XR_930913.1:n.	N/A	Intron Variant
CARS transcript variant X16	XR_930914.2:n.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.951	G=0.049
1000Genomes	American	Sub	694	A=0.460	G=0.540
1000Genomes	East Asian	Sub	1008	A=0.341	G=0.659
1000Genomes	Europe	Sub	1006	A=0.604	G=0.396
1000Genomes	Global	Study-wide	5008	A=0.614	G=0.386
1000Genomes	South Asian	Sub	978	A=0.560	G=0.440
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.600	G=0.400
The Genome Aggregation Database	African	Sub	8706	A=0.903	G=0.097
The Genome Aggregation Database	American	Sub	838	A=0.440	G=0.560
The Genome Aggregation Database	East Asian	Sub	1608	A=0.378	G=0.622
The Genome Aggregation Database	Europe	Sub	18340	A=0.624	G=0.375
The Genome Aggregation Database	Global	Study-wide	29794	A=0.686	G=0.313
The Genome Aggregation Database	Other	Sub	302	A=0.570	G=0.430
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.707	G=0.292
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.608	G=0.392

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

P-Value

SNP ID	p-value	Traits	Study
rs434114	0.0007	alcohol dependence(early age of onset)	20201924
rs434114	0.00084	alcohol dependence	20201924

eQTL of rs434114 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

meQTL of rs434114 in Fetal Brain

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

Genomic View

Chromatin Interaction

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