rs4725432

Organism: Homo sapiens

Alleles: C>A

Gene : Feature

PRKAG2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0186 (5590/29930,GnomAD)
A=0196 (5717/29118,TOPMED)
A=0255 (1276/5008,1000G)
A=0101 (390/3854,ALSPAC)
A=0096 (356/3708,TWINSUK)

Position: chr7:151776332 (GRCh38.p7) (7q36.1)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 266 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.151776332C>A
GRCh37.p13 chr 7	NC_000007.13:g.151473418C>A
PRKAG2 RefSeqGene	NG_007486.1:g.105899G>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 a	NM_016203.3:c.	N/A	Intron Variant
PRKAG2 transcript variant d	NM_001304527.1:c.	N/A	Genic Upstream Transcript Variant
PRKAG2 transcript variant e	NM_001304531.1:c.	N/A	Genic Upstream Transcript Variant
PRKAG2 transcript variant b	NM_024429.1:c.	N/A	Genic Upstream Transcript 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 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 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 X18	XM_017012275.1:c.	N/A	Intron Variant
PRKAG2 transcript variant X19	XM_017012276.1: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
PRKAG2 transcript variant X12	XM_005250006.4:c.	N/A	Genic Upstream Transcript Variant
PRKAG2 transcript variant X14	XM_011516285.1:c.	N/A	Genic Upstream Transcript Variant
PRKAG2 transcript variant X16	XM_011516286.1:c.	N/A	Genic Upstream Transcript Variant
PRKAG2 transcript variant X13	XM_017012273.1:c.	N/A	Genic Upstream Transcript Variant
PRKAG2 transcript variant X15	XM_017012274.1:c.	N/A	Genic Upstream Transcript Variant
PRKAG2 transcript variant X20	XM_017012277.1:c.	N/A	Genic Upstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.687	A=0.313
1000Genomes	American	Sub	694	C=0.630	A=0.370
1000Genomes	East Asian	Sub	1008	C=0.803	A=0.197
1000Genomes	Europe	Sub	1006	C=0.870	A=0.130
1000Genomes	Global	Study-wide	5008	C=0.745	A=0.255
1000Genomes	South Asian	Sub	978	C=0.720	A=0.280
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.899	A=0.101
The Genome Aggregation Database	African	Sub	8706	C=0.712	A=0.288
The Genome Aggregation Database	American	Sub	834	C=0.650	A=0.350
The Genome Aggregation Database	East Asian	Sub	1618	C=0.822	A=0.178
The Genome Aggregation Database	Europe	Sub	18470	C=0.866	A=0.133
The Genome Aggregation Database	Global	Study-wide	29930	C=0.813	A=0.186
The Genome Aggregation Database	Other	Sub	302	C=0.890	A=0.110
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.803	A=0.196
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.904	A=0.096

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

SNP ID	p-value	Traits	Study
rs4725432	0.000643	nicotine smoking	19268276

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

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	151434188	151434257	E067	-39161
chr7	151472046	151472137	E067	-1281
chr7	151472142	151472192	E067	-1226
chr7	151472346	151472412	E067	-1006
chr7	151472685	151472745	E067	-673
chr7	151493225	151493361	E067	19807
chr7	151493435	151493881	E067	20017
chr7	151512451	151512491	E067	39033
chr7	151520992	151521942	E067	47574
chr7	151522313	151522370	E067	48895
chr7	151522750	151522858	E067	49332
chr7	151522892	151523119	E067	49474
chr7	151423530	151423768	E068	-49650
chr7	151432181	151434111	E068	-39307
chr7	151440680	151441179	E068	-32239
chr7	151453010	151453822	E068	-19596
chr7	151453932	151454060	E068	-19358
chr7	151454119	151454895	E068	-18523
chr7	151455009	151455088	E068	-18330
chr7	151455256	151455327	E068	-18091
chr7	151455392	151455500	E068	-17918
chr7	151455590	151455658	E068	-17760
chr7	151490960	151491088	E068	17542
chr7	151491151	151491409	E068	17733
chr7	151491463	151491554	E068	18045
chr7	151491594	151491904	E068	18176
chr7	151491912	151492083	E068	18494
chr7	151492116	151492926	E068	18698
chr7	151493225	151493361	E068	19807
chr7	151493435	151493881	E068	20017
chr7	151512451	151512491	E068	39033
chr7	151513058	151513114	E068	39640
chr7	151513300	151513350	E068	39882
chr7	151515867	151515995	E068	42449
chr7	151516056	151516154	E068	42638
chr7	151519630	151520376	E068	46212
chr7	151520454	151520513	E068	47036
chr7	151520530	151520676	E068	47112
chr7	151520718	151520988	E068	47300
chr7	151520992	151521942	E068	47574
chr7	151522313	151522370	E068	48895
chr7	151522750	151522858	E068	49332
chr7	151522892	151523119	E068	49474
chr7	151432181	151434111	E069	-39307
chr7	151455009	151455088	E069	-18330
chr7	151455256	151455327	E069	-18091
chr7	151455392	151455500	E069	-17918
chr7	151455590	151455658	E069	-17760
chr7	151479532	151479641	E069	6114
chr7	151480667	151480717	E069	7249
chr7	151480956	151481015	E069	7538
chr7	151488176	151488390	E069	14758
chr7	151488434	151488552	E069	15016
chr7	151488625	151488676	E069	15207
chr7	151488757	151488811	E069	15339
chr7	151488939	151488995	E069	15521
chr7	151491463	151491554	E069	18045
chr7	151491594	151491904	E069	18176
chr7	151491912	151492083	E069	18494
chr7	151493225	151493361	E069	19807
chr7	151493435	151493881	E069	20017
chr7	151522313	151522370	E069	48895
chr7	151522750	151522858	E069	49332
chr7	151522892	151523119	E069	49474
chr7	151427821	151428071	E070	-45347
chr7	151428094	151428620	E070	-44798
chr7	151428659	151428725	E070	-44693
chr7	151428741	151428822	E070	-44596
chr7	151428915	151429018	E070	-44400
chr7	151429439	151429571	E070	-43847
chr7	151429616	151429694	E070	-43724
chr7	151429829	151429903	E070	-43515
chr7	151430055	151430382	E070	-43036
chr7	151430392	151430574	E070	-42844
chr7	151459305	151459408	E070	-14010
chr7	151459529	151459600	E070	-13818
chr7	151459659	151460439	E070	-12979
chr7	151489913	151489979	E070	16495
chr7	151511030	151511126	E070	37612
chr7	151512451	151512491	E070	39033
chr7	151522750	151522858	E070	49332
chr7	151522892	151523119	E070	49474
chr7	151439759	151440661	E071	-32757
chr7	151440680	151441179	E071	-32239
chr7	151451839	151452955	E071	-20463
chr7	151453010	151453822	E071	-19596
chr7	151453932	151454060	E071	-19358
chr7	151454119	151454895	E071	-18523
chr7	151472346	151472412	E071	-1006
chr7	151479532	151479641	E071	6114
chr7	151489226	151489489	E071	15808
chr7	151489705	151489790	E071	16287
chr7	151489794	151489903	E071	16376
chr7	151489913	151489979	E071	16495
chr7	151491912	151492083	E071	18494
chr7	151492116	151492926	E071	18698
chr7	151493225	151493361	E071	19807
chr7	151493435	151493881	E071	20017
chr7	151494058	151495178	E071	20640
chr7	151520718	151520988	E071	47300
chr7	151520992	151521942	E071	47574
chr7	151522313	151522370	E071	48895
chr7	151522892	151523119	E071	49474
chr7	151432181	151434111	E072	-39307
chr7	151439759	151440661	E072	-32757
chr7	151440680	151441179	E072	-32239
chr7	151453010	151453822	E072	-19596
chr7	151453932	151454060	E072	-19358
chr7	151454119	151454895	E072	-18523
chr7	151455659	151455729	E072	-17689
chr7	151479532	151479641	E072	6114
chr7	151493225	151493361	E072	19807
chr7	151493435	151493881	E072	20017
chr7	151515670	151515720	E072	42252
chr7	151522313	151522370	E072	48895
chr7	151522750	151522858	E072	49332
chr7	151522892	151523119	E072	49474
chr7	151423530	151423768	E073	-49650
chr7	151423805	151424006	E073	-49412
chr7	151424146	151424254	E073	-49164
chr7	151424398	151424515	E073	-48903
chr7	151443198	151443296	E073	-30122
chr7	151443593	151443842	E073	-29576
chr7	151450993	151451775	E073	-21643
chr7	151451839	151452955	E073	-20463
chr7	151453010	151453822	E073	-19596
chr7	151453932	151454060	E073	-19358
chr7	151454119	151454895	E073	-18523
chr7	151455009	151455088	E073	-18330
chr7	151455256	151455327	E073	-18091
chr7	151455782	151456362	E073	-17056
chr7	151456434	151457100	E073	-16318
chr7	151457152	151457218	E073	-16200
chr7	151457257	151457349	E073	-16069
chr7	151460860	151460990	E073	-12428
chr7	151491151	151491409	E073	17733
chr7	151491463	151491554	E073	18045
chr7	151491594	151491904	E073	18176
chr7	151491912	151492083	E073	18494
chr7	151492116	151492926	E073	18698
chr7	151493225	151493361	E073	19807
chr7	151493435	151493881	E073	20017
chr7	151499022	151499734	E073	25604
chr7	151499741	151499970	E073	26323
chr7	151507922	151508083	E073	34504
chr7	151508171	151508236	E073	34753
chr7	151513058	151513114	E073	39640
chr7	151515559	151515621	E073	42141
chr7	151515670	151515720	E073	42252
chr7	151515867	151515995	E073	42449
chr7	151516056	151516154	E073	42638
chr7	151522313	151522370	E073	48895
chr7	151522750	151522858	E073	49332
chr7	151522892	151523119	E073	49474
chr7	151439759	151440661	E074	-32757
chr7	151440680	151441179	E074	-32239
chr7	151441316	151441625	E074	-31793
chr7	151451839	151452955	E074	-20463
chr7	151453010	151453822	E074	-19596
chr7	151453932	151454060	E074	-19358
chr7	151454119	151454895	E074	-18523
chr7	151455009	151455088	E074	-18330
chr7	151455256	151455327	E074	-18091
chr7	151455392	151455500	E074	-17918
chr7	151455590	151455658	E074	-17760
chr7	151455659	151455729	E074	-17689
chr7	151455782	151456362	E074	-17056
chr7	151491463	151491554	E074	18045
chr7	151491594	151491904	E074	18176
chr7	151493435	151493881	E074	20017
chr7	151515670	151515720	E074	42252
chr7	151520992	151521942	E074	47574
chr7	151522313	151522370	E074	48895
chr7	151522750	151522858	E074	49332
chr7	151522892	151523119	E074	49474
chr7	151423530	151423768	E081	-49650
chr7	151423805	151424006	E081	-49412
chr7	151424146	151424254	E081	-49164
chr7	151424398	151424515	E081	-48903
chr7	151424525	151425590	E081	-47828
chr7	151427610	151427705	E081	-45713
chr7	151427746	151427800	E081	-45618
chr7	151427821	151428071	E081	-45347
chr7	151428094	151428620	E081	-44798
chr7	151428659	151428725	E081	-44693
chr7	151428741	151428822	E081	-44596
chr7	151428915	151429018	E081	-44400
chr7	151429439	151429571	E081	-43847
chr7	151429616	151429694	E081	-43724
chr7	151453932	151454060	E081	-19358
chr7	151454119	151454895	E081	-18523
chr7	151455009	151455088	E081	-18330
chr7	151455256	151455327	E081	-18091
chr7	151455392	151455500	E081	-17918
chr7	151455590	151455658	E081	-17760
chr7	151455659	151455729	E081	-17689
chr7	151455782	151456362	E081	-17056
chr7	151456434	151457100	E081	-16318
chr7	151459043	151459134	E081	-14284
chr7	151459305	151459408	E081	-14010
chr7	151459529	151459600	E081	-13818
chr7	151459659	151460439	E081	-12979
chr7	151460507	151460592	E081	-12826
chr7	151460860	151460990	E081	-12428
chr7	151461067	151461190	E081	-12228
chr7	151461277	151461363	E081	-12055
chr7	151461384	151461439	E081	-11979
chr7	151461620	151461787	E081	-11631
chr7	151466873	151467005	E081	-6413
chr7	151467126	151467302	E081	-6116
chr7	151467317	151467456	E081	-5962
chr7	151467516	151467658	E081	-5760
chr7	151467705	151467791	E081	-5627
chr7	151467941	151467991	E081	-5427
chr7	151472752	151472810	E081	-608
chr7	151472840	151473228	E081	-190
chr7	151479532	151479641	E081	6114
chr7	151489226	151489489	E081	15808
chr7	151489705	151489790	E081	16287
chr7	151489794	151489903	E081	16376
chr7	151489913	151489979	E081	16495
chr7	151490111	151490263	E081	16693
chr7	151504987	151506325	E081	31569
chr7	151506372	151506445	E081	32954
chr7	151506511	151506676	E081	33093
chr7	151506889	151506970	E081	33471
chr7	151507469	151507523	E081	34051
chr7	151507663	151507844	E081	34245
chr7	151507922	151508083	E081	34504
chr7	151510504	151510573	E081	37086
chr7	151510626	151510797	E081	37208
chr7	151510812	151510952	E081	37394
chr7	151511030	151511126	E081	37612
chr7	151511157	151512340	E081	37739
chr7	151512451	151512491	E081	39033
chr7	151515867	151515995	E081	42449
chr7	151516056	151516154	E081	42638
chr7	151423530	151423768	E082	-49650
chr7	151427610	151427705	E082	-45713
chr7	151427746	151427800	E082	-45618
chr7	151427821	151428071	E082	-45347
chr7	151428094	151428620	E082	-44798
chr7	151454119	151454895	E082	-18523
chr7	151455009	151455088	E082	-18330
chr7	151455256	151455327	E082	-18091
chr7	151455392	151455500	E082	-17918
chr7	151455590	151455658	E082	-17760
chr7	151455659	151455729	E082	-17689
chr7	151455782	151456362	E082	-17056
chr7	151459659	151460439	E082	-12979
chr7	151460507	151460592	E082	-12826
chr7	151460860	151460990	E082	-12428
chr7	151461067	151461190	E082	-12228
chr7	151461277	151461363	E082	-12055
chr7	151461384	151461439	E082	-11979
chr7	151461620	151461787	E082	-11631
chr7	151461950	151462011	E082	-11407
chr7	151466873	151467005	E082	-6413
chr7	151467126	151467302	E082	-6116
chr7	151467317	151467456	E082	-5962
chr7	151467516	151467658	E082	-5760
chr7	151467705	151467791	E082	-5627
chr7	151504987	151506325	E082	31569
chr7	151510812	151510952	E082	37394
chr7	151512451	151512491	E082	39033
chr7	151520992	151521942	E082	47574

rs4725432

Genomic Coordinates

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

Population Frequency

P-Value

eQTL of rs4725432 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs4725432 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)