SNP Detail Info-rs7977587

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

UTP20 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0226 (6591/29118,TOPMED)
G=0227 (6434/28330,GnomAD)
G=0256 (1284/5008,1000G)
G=0229 (884/3854,ALSPAC)
G=0233 (864/3708,TWINSUK)

Position: chr12:101340906 (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.101340906A>G
GRCh37.p13 chr 12	NC_000012.11:g.101734684A>G

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	A=0.846	G=0.154
1000Genomes	American	Sub	694	A=0.680	G=0.320
1000Genomes	East Asian	Sub	1008	A=0.625	G=0.375
1000Genomes	Europe	Sub	1006	A=0.762	G=0.238
1000Genomes	Global	Study-wide	5008	A=0.744	G=0.256
1000Genomes	South Asian	Sub	978	A=0.750	G=0.250
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.771	G=0.229
The Genome Aggregation Database	African	Sub	8452	A=0.828	G=0.172
The Genome Aggregation Database	American	Sub	776	A=0.650	G=0.350
The Genome Aggregation Database	East Asian	Sub	1570	A=0.646	G=0.354
The Genome Aggregation Database	Europe	Sub	17234	A=0.764	G=0.236
The Genome Aggregation Database	Global	Study-wide	28330	A=0.772	G=0.227
The Genome Aggregation Database	Other	Sub	298	A=0.710	G=0.290
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.773	G=0.226
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.767	G=0.233

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
rs7977587	1.66E-07	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	-43043
chr12	101692002	101692211	E067	-42473
chr12	101692243	101692491	E067	-42193
chr12	101692002	101692211	E069	-42473
chr12	101692243	101692491	E069	-42193
chr12	101691390	101691641	E071	-43043
chr12	101691390	101691641	E072	-43043
chr12	101692002	101692211	E072	-42473

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr12	101692853	101693016	E067	-41668
chr12	101693076	101693399	E067	-41285
chr12	101693724	101694082	E067	-40602
chr12	101692853	101693016	E068	-41668
chr12	101693076	101693399	E068	-41285
chr12	101692853	101693016	E069	-41668
chr12	101693076	101693399	E069	-41285
chr12	101693724	101694082	E069	-40602
chr12	101692853	101693016	E071	-41668
chr12	101693076	101693399	E071	-41285
chr12	101693724	101694082	E071	-40602
chr12	101692853	101693016	E072	-41668
chr12	101693076	101693399	E072	-41285
chr12	101692853	101693016	E074	-41668
chr12	101693076	101693399	E074	-41285
chr12	101693724	101694082	E074	-40602

rs7977587