SNP Detail Info-rs7965430

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

ANO6 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0162 (4862/29904,GnomAD)
A==0192 (5612/29118,TOPMED)
A==0266 (1330/5008,1000G)
A==0060 (231/3854,ALSPAC)
A==0065 (241/3708,TWINSUK)

Position: chr12:45316447 (GRCh38.p7) (12q12)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 39 Enhancers around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
ANO6 transcript variant 1	NM_001025356.2:c.	N/A	Intron Variant
ANO6 transcript variant 2	NM_001142678.1:c.	N/A	Intron Variant
ANO6 transcript variant 3	NM_001142679.1:c.	N/A	Intron Variant
ANO6 transcript variant 5	NM_001204803.1:c.	N/A	Intron Variant
ANO6 transcript variant X1	XM_005268706.4:c.	N/A	Intron Variant
ANO6 transcript variant X2	XM_005268707.3:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.393	G=0.607
1000Genomes	American	Sub	694	A=0.120	G=0.880
1000Genomes	East Asian	Sub	1008	A=0.447	G=0.553
1000Genomes	Europe	Sub	1006	A=0.064	G=0.936
1000Genomes	Global	Study-wide	5008	A=0.266	G=0.734
1000Genomes	South Asian	Sub	978	A=0.220	G=0.780
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.060	G=0.940
The Genome Aggregation Database	African	Sub	8700	A=0.325	G=0.675
The Genome Aggregation Database	American	Sub	836	A=0.110	G=0.890
The Genome Aggregation Database	East Asian	Sub	1578	A=0.421	G=0.579
The Genome Aggregation Database	Europe	Sub	18490	A=0.068	G=0.932
The Genome Aggregation Database	Global	Study-wide	29904	A=0.162	G=0.837
The Genome Aggregation Database	Other	Sub	300	A=0.080	G=0.920
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.192	G=0.807
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.065	G=0.935

PMID	Title	Author	Journal
19581569	Genome-wide association study of alcohol dependence.	Treutlein J	Arch Gen Psychiatry

SNP ID	p-value	Traits	Study
rs7965430	2.02E-05	alcohol dependence	19581569

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 )
chr12	45697383	45697524	E067	-12706
chr12	45697649	45698081	E067	-12149
chr12	45698243	45698798	E067	-11432
chr12	45697383	45697524	E068	-12706
chr12	45697649	45698081	E068	-12149
chr12	45698243	45698798	E068	-11432
chr12	45698965	45699031	E068	-11199
chr12	45703551	45704356	E068	-5874
chr12	45704368	45704440	E068	-5790
chr12	45697649	45698081	E069	-12149
chr12	45698243	45698798	E069	-11432
chr12	45698965	45699031	E069	-11199
chr12	45677825	45678656	E070	-31574
chr12	45678720	45678770	E070	-31460
chr12	45697383	45697524	E071	-12706
chr12	45697649	45698081	E071	-12149
chr12	45698243	45698798	E071	-11432
chr12	45698965	45699031	E071	-11199
chr12	45699445	45699714	E071	-10516
chr12	45703551	45704356	E071	-5874
chr12	45704368	45704440	E071	-5790
chr12	45697649	45698081	E072	-12149
chr12	45698243	45698798	E072	-11432
chr12	45698965	45699031	E072	-11199
chr12	45662345	45663376	E073	-46854
chr12	45697383	45697524	E073	-12706
chr12	45697649	45698081	E073	-12149
chr12	45698243	45698798	E073	-11432
chr12	45667381	45668266	E074	-41964
chr12	45694607	45694683	E074	-15547
chr12	45694736	45694846	E074	-15384
chr12	45697383	45697524	E074	-12706
chr12	45697649	45698081	E074	-12149
chr12	45698243	45698798	E074	-11432
chr12	45698965	45699031	E074	-11199
chr12	45673707	45674240	E081	-35990
chr12	45674311	45674566	E081	-35664
chr12	45697649	45698081	E082	-12149
chr12	45698243	45698798	E082	-11432

rs7965430