SNP Detail Info-rs10510170

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

CNTN6 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0063 (1885/29902,GnomAD)
G=0056 (1647/29118,TOPMED)
G=0062 (308/5008,1000G)
G=0097 (375/3854,ALSPAC)
G=0099 (366/3708,TWINSUK)

Position: chr3:1333292 (GRCh38.p7) (3p26.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 2 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 3	NC_000003.12:g.1333292A>G
GRCh37.p13 chr 3	NC_000003.11:g.1374976A>G

Molecule type	Change	Amino acid[Codon]	SO Term
CNTN6 transcript variant 2	NM_001289080.1:c.	N/A	Intron Variant
CNTN6 transcript variant 3	NM_001289081.1:c.	N/A	Intron Variant
CNTN6 transcript variant 1	NM_014461.3:c.	N/A	Intron Variant
CNTN6 transcript variant X1	XM_005265058.3:c.	N/A	Intron Variant
CNTN6 transcript variant X2	XM_011533590.2:c.	N/A	Intron Variant
CNTN6 transcript variant X7	XM_011533591.2:c.	N/A	Intron Variant
CNTN6 transcript variant X1	XM_017006171.1:c.	N/A	Intron Variant
CNTN6 transcript variant X4	XM_017006172.1:c.	N/A	Intron Variant
CNTN6 transcript variant X5	XM_017006173.1:c.	N/A	Intron Variant
CNTN6 transcript variant X4	XM_017006174.1:c.	N/A	Intron Variant
CNTN6 transcript variant X8	XM_017006175.1:c.	N/A	Intron Variant
CNTN6 transcript variant X9	XM_017006176.1:c.	N/A	Intron Variant
CNTN6 transcript variant X10	XM_017006177.1:c.	N/A	Intron Variant
CNTN6 transcript variant X7	XR_940415.2:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.998	G=0.002
1000Genomes	American	Sub	694	A=0.930	G=0.070
1000Genomes	East Asian	Sub	1008	A=0.922	G=0.078
1000Genomes	Europe	Sub	1006	A=0.917	G=0.083
1000Genomes	Global	Study-wide	5008	A=0.938	G=0.062
1000Genomes	South Asian	Sub	978	A=0.900	G=0.100
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.903	G=0.097
The Genome Aggregation Database	African	Sub	8730	A=0.982	G=0.018
The Genome Aggregation Database	American	Sub	834	A=0.920	G=0.080
The Genome Aggregation Database	East Asian	Sub	1572	A=0.929	G=0.071
The Genome Aggregation Database	Europe	Sub	18466	A=0.917	G=0.082
The Genome Aggregation Database	Global	Study-wide	29902	A=0.937	G=0.063
The Genome Aggregation Database	Other	Sub	300	A=0.900	G=0.100
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.943	G=0.056
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.901	G=0.099

PMID	Title	Author	Journal
21956439	Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q.	Zuo L	Neuropsychopharmacology

SNP ID	p-value	Traits	Study
rs10510170	5E-06	alcohol dependence	21956439

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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr3	1422804	1422878	E070	47828
chr3	1422995	1423231	E070	48019

rs10510170