SNP Detail Info-rs3782848

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

UTP20 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0170 (5015/29372,GnomAD)
A=0168 (4906/29118,TOPMED)
A=0211 (1055/5008,1000G)
A=0199 (766/3854,ALSPAC)
A=0201 (745/3708,TWINSUK)

Position: chr12:101346082 (GRCh38.p7) (12q23.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 8 Enhancers around

Promoter: 16 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.101346082G>A
GRCh37.p13 chr 12	NC_000012.11:g.101739860G>A

Molecule type	Change	Amino acid[Codon]	SO Term
UTP20 transcript	NM_014503.2:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.955	A=0.045
1000Genomes	American	Sub	694	G=0.720	A=0.280
1000Genomes	East Asian	Sub	1008	G=0.626	A=0.374
1000Genomes	Europe	Sub	1006	G=0.792	A=0.208
1000Genomes	Global	Study-wide	5008	G=0.789	A=0.211
1000Genomes	South Asian	Sub	978	G=0.780	A=0.220
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.801	A=0.199
The Genome Aggregation Database	African	Sub	8630	G=0.928	A=0.072
The Genome Aggregation Database	American	Sub	828	G=0.690	A=0.310
The Genome Aggregation Database	East Asian	Sub	1610	G=0.646	A=0.354
The Genome Aggregation Database	Europe	Sub	18002	G=0.805	A=0.194
The Genome Aggregation Database	Global	Study-wide	29372	G=0.829	A=0.170
The Genome Aggregation Database	Other	Sub	302	G=0.750	A=0.250
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.831	A=0.168
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.799	A=0.201

PMID	Title	Author	Journal
24962325	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Kapoor M	Drug Alcohol Depend

SNP ID	p-value	Traits	Study
rs3782848	6.31E-06	alcohol dependence (age at onset)	24962325

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	101691390	101691641	E067	-48219
chr12	101692002	101692211	E067	-47649
chr12	101692243	101692491	E067	-47369
chr12	101692002	101692211	E069	-47649
chr12	101692243	101692491	E069	-47369
chr12	101691390	101691641	E071	-48219
chr12	101691390	101691641	E072	-48219
chr12	101692002	101692211	E072	-47649

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr12	101692853	101693016	E067	-46844
chr12	101693076	101693399	E067	-46461
chr12	101693724	101694082	E067	-45778
chr12	101692853	101693016	E068	-46844
chr12	101693076	101693399	E068	-46461
chr12	101692853	101693016	E069	-46844
chr12	101693076	101693399	E069	-46461
chr12	101693724	101694082	E069	-45778
chr12	101692853	101693016	E071	-46844
chr12	101693076	101693399	E071	-46461
chr12	101693724	101694082	E071	-45778
chr12	101692853	101693016	E072	-46844
chr12	101693076	101693399	E072	-46461
chr12	101692853	101693016	E074	-46844
chr12	101693076	101693399	E074	-46461
chr12	101693724	101694082	E074	-45778

rs3782848