rs844030

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

UTP20 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0182 (5469/29914,GnomAD)
G==0184 (5381/29118,TOPMED)
G==0226 (1133/5008,1000G)
G==0199 (767/3854,ALSPAC)
G==0201 (745/3708,TWINSUK)

Position: chr12:101291644 (GRCh38.p7) (12q23.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 9 Enhancers around

Promoter: 69 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.101291644G>A
GRCh37.p13 chr 12	NC_000012.11:g.101685422G>A

Gene: UTP20, UTP20, small subunit processome component(plus strand)

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

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.098	A=0.902
1000Genomes	American	Sub	694	G=0.290	A=0.710
1000Genomes	East Asian	Sub	1008	G=0.372	A=0.628
1000Genomes	Europe	Sub	1006	G=0.208	A=0.792
1000Genomes	Global	Study-wide	5008	G=0.226	A=0.774
1000Genomes	South Asian	Sub	978	G=0.220	A=0.780
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.199	A=0.801
The Genome Aggregation Database	African	Sub	8712	G=0.112	A=0.888
The Genome Aggregation Database	American	Sub	832	G=0.310	A=0.690
The Genome Aggregation Database	East Asian	Sub	1610	G=0.353	A=0.647
The Genome Aggregation Database	Europe	Sub	18458	G=0.194	A=0.805
The Genome Aggregation Database	Global	Study-wide	29914	G=0.182	A=0.817
The Genome Aggregation Database	Other	Sub	302	G=0.250	A=0.750
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.184	A=0.815
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.201	A=0.799

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

P-Value

SNP ID	p-value	Traits	Study
rs844030	7.68E-06	alcohol dependence (age at onset)	24962325

eQTL of rs844030 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 rs844030 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.

Enhancer Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr12	101691390	101691641	E067	5968
chr12	101692002	101692211	E067	6580
chr12	101692243	101692491	E067	6821
chr12	101692002	101692211	E069	6580
chr12	101692243	101692491	E069	6821
chr12	101684127	101684167	E071	-1255
chr12	101691390	101691641	E071	5968
chr12	101691390	101691641	E072	5968
chr12	101692002	101692211	E072	6580

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr12	101673164	101673326	E067	-12096
chr12	101673369	101673461	E067	-11961
chr12	101673570	101674315	E067	-11107
chr12	101674460	101674520	E067	-10902
chr12	101674561	101674663	E067	-10759
chr12	101692853	101693016	E067	7431
chr12	101693076	101693399	E067	7654
chr12	101693724	101694082	E067	8302
chr12	101673164	101673326	E068	-12096
chr12	101673369	101673461	E068	-11961
chr12	101673570	101674315	E068	-11107
chr12	101674460	101674520	E068	-10902
chr12	101674561	101674663	E068	-10759
chr12	101692853	101693016	E068	7431
chr12	101693076	101693399	E068	7654
chr12	101673164	101673326	E069	-12096
chr12	101673369	101673461	E069	-11961
chr12	101673570	101674315	E069	-11107
chr12	101674460	101674520	E069	-10902
chr12	101674561	101674663	E069	-10759
chr12	101692853	101693016	E069	7431
chr12	101693076	101693399	E069	7654
chr12	101693724	101694082	E069	8302
chr12	101673164	101673326	E070	-12096
chr12	101673369	101673461	E070	-11961
chr12	101673570	101674315	E070	-11107
chr12	101674460	101674520	E070	-10902
chr12	101674561	101674663	E070	-10759
chr12	101673056	101673115	E071	-12307
chr12	101673121	101673150	E071	-12272
chr12	101673164	101673326	E071	-12096
chr12	101673369	101673461	E071	-11961
chr12	101673570	101674315	E071	-11107
chr12	101674460	101674520	E071	-10902
chr12	101674561	101674663	E071	-10759
chr12	101692853	101693016	E071	7431
chr12	101693076	101693399	E071	7654
chr12	101693724	101694082	E071	8302
chr12	101673164	101673326	E072	-12096
chr12	101673369	101673461	E072	-11961
chr12	101673570	101674315	E072	-11107
chr12	101674460	101674520	E072	-10902
chr12	101674561	101674663	E072	-10759
chr12	101692853	101693016	E072	7431
chr12	101693076	101693399	E072	7654
chr12	101673164	101673326	E073	-12096
chr12	101673369	101673461	E073	-11961
chr12	101673570	101674315	E073	-11107
chr12	101674460	101674520	E073	-10902
chr12	101674561	101674663	E073	-10759
chr12	101673164	101673326	E074	-12096
chr12	101673369	101673461	E074	-11961
chr12	101673570	101674315	E074	-11107
chr12	101674460	101674520	E074	-10902
chr12	101674561	101674663	E074	-10759
chr12	101692853	101693016	E074	7431
chr12	101693076	101693399	E074	7654
chr12	101693724	101694082	E074	8302
chr12	101673369	101673461	E081	-11961
chr12	101673570	101674315	E081	-11107
chr12	101674460	101674520	E081	-10902
chr12	101674561	101674663	E081	-10759
chr12	101673056	101673115	E082	-12307
chr12	101673121	101673150	E082	-12272
chr12	101673164	101673326	E082	-12096
chr12	101673369	101673461	E082	-11961
chr12	101673570	101674315	E082	-11107
chr12	101674460	101674520	E082	-10902
chr12	101674561	101674663	E082	-10759