SNP Detail Info-rs7973083

Organism: Homo sapiens

Alleles: T>A

Gene : Feature

UTP20 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0202 (6054/29908,GnomAD)
A=0195 (5686/29118,TOPMED)
A=0238 (1191/5008,1000G)
A=0225 (866/3854,ALSPAC)
A=0227 (843/3708,TWINSUK)

Position: chr12:101330303 (GRCh38.p7) (12q23.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 9 Enhancers around

Promoter: 36 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.101330303T>A
GRCh37.p13 chr 12	NC_000012.11:g.101724081T>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	T=0.902	A=0.098
1000Genomes	American	Sub	694	T=0.700	A=0.300
1000Genomes	East Asian	Sub	1008	T=0.625	A=0.375
1000Genomes	Europe	Sub	1006	T=0.771	A=0.229
1000Genomes	Global	Study-wide	5008	T=0.762	A=0.238
1000Genomes	South Asian	Sub	978	T=0.750	A=0.250
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.775	A=0.225
The Genome Aggregation Database	African	Sub	8708	T=0.884	A=0.116
The Genome Aggregation Database	American	Sub	836	T=0.680	A=0.320
The Genome Aggregation Database	East Asian	Sub	1610	T=0.643	A=0.357
The Genome Aggregation Database	Europe	Sub	18452	T=0.776	A=0.223
The Genome Aggregation Database	Global	Study-wide	29908	T=0.797	A=0.202
The Genome Aggregation Database	Other	Sub	302	T=0.740	A=0.260
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.804	A=0.195
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.773	A=0.227

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
rs7973083	5.53E-08	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	-32440
chr12	101692002	101692211	E067	-31870
chr12	101692243	101692491	E067	-31590
chr12	101692002	101692211	E069	-31870
chr12	101692243	101692491	E069	-31590
chr12	101684127	101684167	E071	-39914
chr12	101691390	101691641	E071	-32440
chr12	101691390	101691641	E072	-32440
chr12	101692002	101692211	E072	-31870

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr12	101674460	101674520	E067	-49561
chr12	101674561	101674663	E067	-49418
chr12	101692853	101693016	E067	-31065
chr12	101693076	101693399	E067	-30682
chr12	101693724	101694082	E067	-29999
chr12	101674460	101674520	E068	-49561
chr12	101674561	101674663	E068	-49418
chr12	101692853	101693016	E068	-31065
chr12	101693076	101693399	E068	-30682
chr12	101674460	101674520	E069	-49561
chr12	101674561	101674663	E069	-49418
chr12	101692853	101693016	E069	-31065
chr12	101693076	101693399	E069	-30682
chr12	101693724	101694082	E069	-29999
chr12	101674460	101674520	E070	-49561
chr12	101674561	101674663	E070	-49418
chr12	101674460	101674520	E071	-49561
chr12	101674561	101674663	E071	-49418
chr12	101692853	101693016	E071	-31065
chr12	101693076	101693399	E071	-30682
chr12	101693724	101694082	E071	-29999
chr12	101674460	101674520	E072	-49561
chr12	101674561	101674663	E072	-49418
chr12	101692853	101693016	E072	-31065
chr12	101693076	101693399	E072	-30682
chr12	101674460	101674520	E073	-49561
chr12	101674561	101674663	E073	-49418
chr12	101674460	101674520	E074	-49561
chr12	101674561	101674663	E074	-49418
chr12	101692853	101693016	E074	-31065
chr12	101693076	101693399	E074	-30682
chr12	101693724	101694082	E074	-29999
chr12	101674460	101674520	E081	-49561
chr12	101674561	101674663	E081	-49418
chr12	101674460	101674520	E082	-49561
chr12	101674561	101674663	E082	-49418

rs7973083