SNP Detail Info-rs1221872

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

DCC : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0182 (5462/29870,GnomAD)
A==0189 (5523/29118,TOPMED)
A==0312 (1560/5008,1000G)
A==0110 (423/3854,ALSPAC)
A==0112 (416/3708,TWINSUK)

Position: chr18:52603967 (GRCh38.p7) (18q21.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 10 Enhancers around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
DCC transcript	NM_005215.3:c.	N/A	Intron Variant
DCC transcript variant X2	XM_011525843.1:c.	N/A	Intron Variant
DCC transcript variant X1	XM_017025568.1:c.	N/A	Intron Variant
DCC transcript variant X3	XM_017025569.1:c.	N/A	Intron Variant
DCC transcript variant X5	XM_011525844.2:c.	N/A	Genic Upstream Transcript Variant
DCC transcript variant X4	XM_017025570.1:c.	N/A	Genic Upstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.280	G=0.720
1000Genomes	American	Sub	694	A=0.290	G=0.710
1000Genomes	East Asian	Sub	1008	A=0.525	G=0.475
1000Genomes	Europe	Sub	1006	A=0.087	G=0.913
1000Genomes	Global	Study-wide	5008	A=0.312	G=0.688
1000Genomes	South Asian	Sub	978	A=0.380	G=0.620
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.110	G=0.890
The Genome Aggregation Database	African	Sub	8696	A=0.252	G=0.748
The Genome Aggregation Database	American	Sub	832	A=0.310	G=0.690
The Genome Aggregation Database	East Asian	Sub	1616	A=0.491	G=0.509
The Genome Aggregation Database	Europe	Sub	18424	A=0.118	G=0.881
The Genome Aggregation Database	Global	Study-wide	29870	A=0.182	G=0.817
The Genome Aggregation Database	Other	Sub	302	A=0.110	G=0.890
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.189	G=0.810
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.112	G=0.888

PMID	Title	Author	Journal
21529783	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Heath AC	Biol Psychiatry

SNP ID	p-value	Traits	Study
rs1221872	5.8E-05	alcoholism (heaviness of drinking)	21529783

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 )
chr18	50122974	50123056	E070	-7281
chr18	50123114	50123894	E070	-6443
chr18	50149899	50149992	E070	19562
chr18	50150039	50150097	E070	19702
chr18	50160451	50160682	E070	30114
chr18	50122974	50123056	E081	-7281
chr18	50123114	50123894	E081	-6443
chr18	50122974	50123056	E082	-7281
chr18	50123114	50123894	E082	-6443
chr18	50136803	50137511	E082	6466

rs1221872