rs2302530

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

PRKAG2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0202 (6068/29928,GnomAD)
A=0140 (4098/29118,TOPMED)
A=0242 (1214/5008,1000G)
A=0241 (929/3854,ALSPAC)
A=0234 (868/3708,TWINSUK)

Position: chr7:151570311 (GRCh38.p7) (7q36.1)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 105 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 7	NC_000007.14:g.151570311G>A
GRCh37.p13 chr 7	NC_000007.13:g.151267397G>A
PRKAG2 RefSeqGene	NG_007486.1:g.311920C>T

Gene: PRKAG2, protein kinase AMP-activated non-catalytic subunit gamma 2(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PRKAG2 transcript variant c	NM_001040633.1:c.	N/A	Intron Variant
PRKAG2 transcript variant d	NM_001304527.1:c.	N/A	Intron Variant
PRKAG2 transcript variant e	NM_001304531.1:c.	N/A	Intron Variant
PRKAG2 transcript variant a	NM_016203.3:c.	N/A	Intron Variant
PRKAG2 transcript variant b	NM_024429.1:c.	N/A	Intron Variant
PRKAG2 transcript variant X3	XM_005250002.3:c.	N/A	Intron Variant
PRKAG2 transcript variant X6	XM_005250004.3:c.	N/A	Intron Variant
PRKAG2 transcript variant X12	XM_005250006.4:c.	N/A	Intron Variant
PRKAG2 transcript variant X1	XM_006716021.2:c.	N/A	Intron Variant
PRKAG2 transcript variant X2	XM_011516282.1:c.	N/A	Intron Variant
PRKAG2 transcript variant X4	XM_011516283.1:c.	N/A	Intron Variant
PRKAG2 transcript variant X5	XM_011516284.1:c.	N/A	Intron Variant
PRKAG2 transcript variant X14	XM_011516285.1:c.	N/A	Intron Variant
PRKAG2 transcript variant X16	XM_011516286.1:c.	N/A	Intron Variant
PRKAG2 transcript variant X20	XM_011516287.1:c.	N/A	Intron Variant
PRKAG2 transcript variant X7	XM_017012268.1:c.	N/A	Intron Variant
PRKAG2 transcript variant X9	XM_017012269.1:c.	N/A	Intron Variant
PRKAG2 transcript variant X10	XM_017012270.1:c.	N/A	Intron Variant
PRKAG2 transcript variant X10	XM_017012271.1:c.	N/A	Intron Variant
PRKAG2 transcript variant X12	XM_017012272.1:c.	N/A	Intron Variant
PRKAG2 transcript variant X13	XM_017012273.1:c.	N/A	Intron Variant
PRKAG2 transcript variant X15	XM_017012274.1:c.	N/A	Intron Variant
PRKAG2 transcript variant X18	XM_017012275.1:c.	N/A	Intron Variant
PRKAG2 transcript variant X19	XM_017012276.1:c.	N/A	Intron Variant
PRKAG2 transcript variant X20	XM_017012277.1:c.	N/A	Intron Variant
PRKAG2 transcript variant X25	XM_017012278.1:c.	N/A	Intron Variant
PRKAG2 transcript variant X22	XM_017012279.1:c.	N/A	Intron Variant
PRKAG2 transcript variant X23	XM_017012280.1:c.	N/A	Intron Variant
PRKAG2 transcript variant X24	XM_017012281.1:c.	N/A	Intron Variant
PRKAG2 transcript variant X25	XM_017012282.1:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.989	A=0.011
1000Genomes	American	Sub	694	G=0.740	A=0.260
1000Genomes	East Asian	Sub	1008	G=0.541	A=0.459
1000Genomes	Europe	Sub	1006	G=0.756	A=0.244
1000Genomes	Global	Study-wide	5008	G=0.758	A=0.242
1000Genomes	South Asian	Sub	978	G=0.680	A=0.320
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.759	A=0.241
The Genome Aggregation Database	African	Sub	8726	G=0.953	A=0.047
The Genome Aggregation Database	American	Sub	838	G=0.790	A=0.210
The Genome Aggregation Database	East Asian	Sub	1614	G=0.546	A=0.454
The Genome Aggregation Database	Europe	Sub	18448	G=0.744	A=0.255
The Genome Aggregation Database	Global	Study-wide	29928	G=0.797	A=0.202
The Genome Aggregation Database	Other	Sub	302	G=0.870	A=0.130
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.859	A=0.140
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.766	A=0.234

PMID	Title	Author	Journal
19268276	Genome-wide association study of smoking initiation and current smoking.	Vink JM	Am J Hum Genet

P-Value

SNP ID	p-value	Traits	Study
rs2302530	0.000723	nicotine smoking	19268276

eQTL of rs2302530 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

meQTL of rs2302530 in Fetal Brain

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr7	151235060	151235147	E067	-32250
chr7	151235189	151235296	E067	-32101
chr7	151235306	151235619	E067	-31778
chr7	151235862	151235920	E067	-31477
chr7	151235938	151236023	E067	-31374
chr7	151236148	151236459	E067	-30938
chr7	151236554	151236855	E067	-30542
chr7	151235060	151235147	E068	-32250
chr7	151235189	151235296	E068	-32101
chr7	151235306	151235619	E068	-31778
chr7	151235862	151235920	E068	-31477
chr7	151235938	151236023	E068	-31374
chr7	151236554	151236855	E068	-30542
chr7	151249389	151249960	E068	-17437
chr7	151250029	151250221	E068	-17176
chr7	151250232	151250295	E068	-17102
chr7	151250305	151250407	E068	-16990
chr7	151251338	151251523	E068	-15874
chr7	151263835	151264438	E068	-2959
chr7	151284055	151284265	E068	16658
chr7	151284389	151284466	E068	16992
chr7	151284643	151284693	E068	17246
chr7	151284761	151284811	E068	17364
chr7	151284817	151284882	E068	17420
chr7	151296453	151297873	E068	29056
chr7	151304540	151305825	E068	37143
chr7	151313019	151313222	E068	45622
chr7	151313683	151313837	E068	46286
chr7	151218280	151218345	E069	-49052
chr7	151218348	151218444	E069	-48953
chr7	151235060	151235147	E069	-32250
chr7	151235189	151235296	E069	-32101
chr7	151235306	151235619	E069	-31778
chr7	151235862	151235920	E069	-31477
chr7	151235060	151235147	E070	-32250
chr7	151235189	151235296	E070	-32101
chr7	151235306	151235619	E070	-31778
chr7	151235862	151235920	E070	-31477
chr7	151235938	151236023	E070	-31374
chr7	151237352	151237432	E070	-29965
chr7	151237459	151237509	E070	-29888
chr7	151264467	151264525	E070	-2872
chr7	151264594	151264644	E070	-2753
chr7	151218280	151218345	E071	-49052
chr7	151218348	151218444	E071	-48953
chr7	151235060	151235147	E071	-32250
chr7	151235189	151235296	E071	-32101
chr7	151235306	151235619	E071	-31778
chr7	151235862	151235920	E071	-31477
chr7	151236554	151236855	E071	-30542
chr7	151251338	151251523	E071	-15874
chr7	151284055	151284265	E071	16658
chr7	151284389	151284466	E071	16992
chr7	151235060	151235147	E072	-32250
chr7	151235862	151235920	E072	-31477
chr7	151235938	151236023	E072	-31374
chr7	151251338	151251523	E072	-15874
chr7	151235060	151235147	E073	-32250
chr7	151235189	151235296	E073	-32101
chr7	151235306	151235619	E073	-31778
chr7	151235862	151235920	E073	-31477
chr7	151235938	151236023	E073	-31374
chr7	151236554	151236855	E073	-30542
chr7	151249389	151249960	E073	-17437
chr7	151282562	151282648	E073	15165
chr7	151282913	151283200	E073	15516
chr7	151218280	151218345	E074	-49052
chr7	151218348	151218444	E074	-48953
chr7	151235060	151235147	E074	-32250
chr7	151235189	151235296	E074	-32101
chr7	151235306	151235619	E074	-31778
chr7	151235862	151235920	E074	-31477
chr7	151235938	151236023	E074	-31374
chr7	151251066	151251161	E074	-16236
chr7	151251338	151251523	E074	-15874
chr7	151218280	151218345	E081	-49052
chr7	151218348	151218444	E081	-48953
chr7	151235862	151235920	E081	-31477
chr7	151235938	151236023	E081	-31374
chr7	151236148	151236459	E081	-30938
chr7	151236554	151236855	E081	-30542
chr7	151237352	151237432	E081	-29965
chr7	151263835	151264438	E081	-2959
chr7	151264467	151264525	E081	-2872
chr7	151264594	151264644	E081	-2753
chr7	151264694	151264744	E081	-2653
chr7	151264906	151264950	E081	-2447
chr7	151264969	151265020	E081	-2377
chr7	151266149	151266286	E081	-1111
chr7	151266326	151266421	E081	-976
chr7	151266488	151266552	E081	-845
chr7	151266728	151266938	E081	-459
chr7	151235060	151235147	E082	-32250
chr7	151235189	151235296	E082	-32101
chr7	151235306	151235619	E082	-31778
chr7	151235862	151235920	E082	-31477
chr7	151235938	151236023	E082	-31374
chr7	151236148	151236459	E082	-30938
chr7	151236554	151236855	E082	-30542
chr7	151264467	151264525	E082	-2872
chr7	151264594	151264644	E082	-2753
chr7	151264694	151264744	E082	-2653
chr7	151264906	151264950	E082	-2447
chr7	151264969	151265020	E082	-2377
chr7	151265152	151265251	E082	-2146