SNP Detail Info-rs12522102

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

LOC105379004 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0354 (10611/29950,GnomAD)
G=0342 (9980/29118,TOPMED)
G=0395 (1980/5008,1000G)
G=0347 (1336/3854,ALSPAC)
G=0335 (1241/3708,TWINSUK)

Position: chr5:66287270 (GRCh38.p7) (5q12.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 10 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 5	NC_000005.10:g.66287270A>G
GRCh37.p13 chr 5	NC_000005.9:g.65583098A>G

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105379004 transcript	XR_948385.2:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.623	G=0.377
1000Genomes	American	Sub	694	A=0.620	G=0.380
1000Genomes	East Asian	Sub	1008	A=0.575	G=0.425
1000Genomes	Europe	Sub	1006	A=0.653	G=0.347
1000Genomes	Global	Study-wide	5008	A=0.605	G=0.395
1000Genomes	South Asian	Sub	978	A=0.550	G=0.450
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.653	G=0.347
The Genome Aggregation Database	African	Sub	8718	A=0.633	G=0.367
The Genome Aggregation Database	American	Sub	836	A=0.560	G=0.440
The Genome Aggregation Database	East Asian	Sub	1618	A=0.520	G=0.480
The Genome Aggregation Database	Europe	Sub	18476	A=0.665	G=0.334
The Genome Aggregation Database	Global	Study-wide	29950	A=0.645	G=0.354
The Genome Aggregation Database	Other	Sub	302	A=0.690	G=0.310
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.657	G=0.342
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.665	G=0.335

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

SNP ID	p-value	Traits	Study
rs12522102	0.000853	alcohol dependence	20201924

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 )
chr5	65620013	65620482	E069	36915
chr5	65602246	65602543	E071	19148
chr5	65602646	65602707	E071	19548
chr5	65602829	65603145	E071	19731
chr5	65603152	65603196	E071	20054
chr5	65603315	65603365	E071	20217
chr5	65603436	65604122	E071	20338
chr5	65604265	65604331	E081	21167
chr5	65604371	65604425	E081	21273
chr5	65604586	65604778	E081	21488

rs12522102