SNP Detail Info-rs7595617

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

NYAP2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0152 (4564/29968,GnomAD)
G=0142 (4143/29118,TOPMED)
G=0164 (819/5008,1000G)
G=0193 (745/3854,ALSPAC)
G=0192 (713/3708,TWINSUK)

Position: chr2:225650982 (GRCh38.p7) (2q36.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 4 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.225650982A>G
GRCh37.p13 chr 2	NC_000002.11:g.226515698A>G

Molecule type	Change	Amino acid[Codon]	SO Term
NYAP2 transcript	NM_020864.1:c.	N/A	Intron Variant
NYAP2 transcript variant X3	XM_005246708.3:c.	N/A	Intron Variant
NYAP2 transcript variant X1	XM_011511524.1:c.	N/A	Intron Variant
NYAP2 transcript variant X2	XM_017004564.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.955	G=0.045
1000Genomes	American	Sub	694	A=0.790	G=0.210
1000Genomes	East Asian	Sub	1008	A=0.864	G=0.136
1000Genomes	Europe	Sub	1006	A=0.779	G=0.221
1000Genomes	Global	Study-wide	5008	A=0.836	G=0.164
1000Genomes	South Asian	Sub	978	A=0.740	G=0.260
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.807	G=0.193
The Genome Aggregation Database	African	Sub	8724	A=0.929	G=0.071
The Genome Aggregation Database	American	Sub	838	A=0.790	G=0.210
The Genome Aggregation Database	East Asian	Sub	1618	A=0.879	G=0.121
The Genome Aggregation Database	Europe	Sub	18486	A=0.810	G=0.190
The Genome Aggregation Database	Global	Study-wide	29968	A=0.847	G=0.152
The Genome Aggregation Database	Other	Sub	302	A=0.790	G=0.210
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.857	G=0.142
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.808	G=0.192

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
rs7595617	0.000817	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 )
chr2	226482509	226482602	E070	-33096
chr2	226516807	226516863	E081	1109
chr2	226525545	226525859	E081	9847
chr2	226551069	226551323	E081	35371

rs7595617