SNP Detail Info-rs2506843

Organism: Homo sapiens

Alleles: C>G

Gene : Feature

PERP : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C==0492 (14730/29918,GnomAD)
G=0495 (14424/29118,TOPMED)
G=0374 (1871/5008,1000G)
C==0440 (1697/3854,ALSPAC)
C==0462 (1713/3708,TWINSUK)

Position: chr6:138095943 (GRCh38.p7) (6q23.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 17 Enhancers around

Promoter: 4 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 6	NC_000006.12:g.138095943C>G
GRCh37.p13 chr 6	NC_000006.11:g.138417080C>G

Molecule type	Change	Amino acid[Codon]	SO Term
PERP transcript	NM_022121.4:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.456	G=0.544
1000Genomes	American	Sub	694	C=0.640	G=0.360
1000Genomes	East Asian	Sub	1008	C=0.916	G=0.084
1000Genomes	Europe	Sub	1006	C=0.473	G=0.527
1000Genomes	Global	Study-wide	5008	C=0.626	G=0.374
1000Genomes	South Asian	Sub	978	C=0.700	G=0.300
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.440	G=0.560
The Genome Aggregation Database	African	Sub	8710	C=0.473	G=0.527
The Genome Aggregation Database	American	Sub	838	C=0.670	G=0.330
The Genome Aggregation Database	East Asian	Sub	1620	C=0.944	G=0.056
The Genome Aggregation Database	Europe	Sub	18448	C=0.454	G=0.545
The Genome Aggregation Database	Global	Study-wide	29918	C=0.492	G=0.507
The Genome Aggregation Database	Other	Sub	302	C=0.460	G=0.540
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.504	G=0.495
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.462	G=0.538

PMID	Title	Author	Journal
21314694	Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.	Kendler KS	Alcohol Clin Exp Res

SNP ID	p-value	Traits	Study
rs2506843	0.000306	alcohol dependence	21314694

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 )
chr6	138450428	138450748	E068	33348
chr6	138450930	138450980	E068	33850
chr6	138429838	138429980	E071	12758
chr6	138432548	138432598	E081	15468
chr6	138432830	138432890	E081	15750
chr6	138433580	138433665	E081	16500
chr6	138434170	138434240	E081	17090
chr6	138434292	138434342	E081	17212
chr6	138435577	138435617	E081	18497
chr6	138435626	138435676	E081	18546
chr6	138435678	138435759	E081	18598
chr6	138435943	138436001	E081	18863
chr6	138436096	138436148	E081	19016
chr6	138436440	138437456	E081	19360
chr6	138439223	138439424	E081	22143
chr6	138432830	138432890	E082	15750
chr6	138436440	138437456	E082	19360

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr6	138425744	138429806	E067	8664
chr6	138425744	138429806	E068	8664
chr6	138425744	138429806	E073	8664
chr6	138425744	138429806	E082	8664

rs2506843