rs4725432

Homo sapiens
C>A
PRKAG2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
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)
chr7:151776332 (GRCh38.p7) (7q36.1)
ND
GWASdb2
1   publication(s)
See rs on genome
266 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.151776332C>A
GRCh37.p13 chr 7NC_000007.13:g.151473418C>A
PRKAG2 RefSeqGeneNG_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 cNM_001040633.1:c.N/AIntron Variant
PRKAG2 transcript variant aNM_016203.3:c.N/AIntron Variant
PRKAG2 transcript variant dNM_001304527.1:c.N/AGenic Upstream Transcript Variant
PRKAG2 transcript variant eNM_001304531.1:c.N/AGenic Upstream Transcript Variant
PRKAG2 transcript variant bNM_024429.1:c.N/AGenic Upstream Transcript Variant
PRKAG2 transcript variant X3XM_005250002.3:c.N/AIntron Variant
PRKAG2 transcript variant X6XM_005250004.3:c.N/AIntron Variant
PRKAG2 transcript variant X1XM_006716021.2:c.N/AIntron Variant
PRKAG2 transcript variant X2XM_011516282.1:c.N/AIntron Variant
PRKAG2 transcript variant X4XM_011516283.1:c.N/AIntron Variant
PRKAG2 transcript variant X5XM_011516284.1:c.N/AIntron Variant
PRKAG2 transcript variant X20XM_011516287.1:c.N/AIntron Variant
PRKAG2 transcript variant X7XM_017012268.1:c.N/AIntron Variant
PRKAG2 transcript variant X9XM_017012269.1:c.N/AIntron Variant
PRKAG2 transcript variant X10XM_017012270.1:c.N/AIntron Variant
PRKAG2 transcript variant X10XM_017012271.1:c.N/AIntron Variant
PRKAG2 transcript variant X12XM_017012272.1:c.N/AIntron Variant
PRKAG2 transcript variant X18XM_017012275.1:c.N/AIntron Variant
PRKAG2 transcript variant X19XM_017012276.1:c.N/AIntron Variant
PRKAG2 transcript variant X25XM_017012278.1:c.N/AIntron Variant
PRKAG2 transcript variant X22XM_017012279.1:c.N/AIntron Variant
PRKAG2 transcript variant X23XM_017012280.1:c.N/AIntron Variant
PRKAG2 transcript variant X24XM_017012281.1:c.N/AIntron Variant
PRKAG2 transcript variant X25XM_017012282.1:c.N/AIntron Variant
PRKAG2 transcript variant X12XM_005250006.4:c.N/AGenic Upstream Transcript Variant
PRKAG2 transcript variant X14XM_011516285.1:c.N/AGenic Upstream Transcript Variant
PRKAG2 transcript variant X16XM_011516286.1:c.N/AGenic Upstream Transcript Variant
PRKAG2 transcript variant X13XM_017012273.1:c.N/AGenic Upstream Transcript Variant
PRKAG2 transcript variant X15XM_017012274.1:c.N/AGenic Upstream Transcript Variant
PRKAG2 transcript variant X20XM_017012277.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.687A=0.313
1000GenomesAmericanSub694C=0.630A=0.370
1000GenomesEast AsianSub1008C=0.803A=0.197
1000GenomesEuropeSub1006C=0.870A=0.130
1000GenomesGlobalStudy-wide5008C=0.745A=0.255
1000GenomesSouth AsianSub978C=0.720A=0.280
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.899A=0.101
The Genome Aggregation DatabaseAfricanSub8706C=0.712A=0.288
The Genome Aggregation DatabaseAmericanSub834C=0.650A=0.350
The Genome Aggregation DatabaseEast AsianSub1618C=0.822A=0.178
The Genome Aggregation DatabaseEuropeSub18470C=0.866A=0.133
The Genome Aggregation DatabaseGlobalStudy-wide29930C=0.813A=0.186
The Genome Aggregation DatabaseOtherSub302C=0.890A=0.110
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.803A=0.196
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.904A=0.096
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs47254320.000643nicotine smoking19268276

eQTL of rs4725432 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 rs4725432 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 )
chr7151434188151434257E067-39161
chr7151472046151472137E067-1281
chr7151472142151472192E067-1226
chr7151472346151472412E067-1006
chr7151472685151472745E067-673
chr7151493225151493361E06719807
chr7151493435151493881E06720017
chr7151512451151512491E06739033
chr7151520992151521942E06747574
chr7151522313151522370E06748895
chr7151522750151522858E06749332
chr7151522892151523119E06749474
chr7151423530151423768E068-49650
chr7151432181151434111E068-39307
chr7151440680151441179E068-32239
chr7151453010151453822E068-19596
chr7151453932151454060E068-19358
chr7151454119151454895E068-18523
chr7151455009151455088E068-18330
chr7151455256151455327E068-18091
chr7151455392151455500E068-17918
chr7151455590151455658E068-17760
chr7151490960151491088E06817542
chr7151491151151491409E06817733
chr7151491463151491554E06818045
chr7151491594151491904E06818176
chr7151491912151492083E06818494
chr7151492116151492926E06818698
chr7151493225151493361E06819807
chr7151493435151493881E06820017
chr7151512451151512491E06839033
chr7151513058151513114E06839640
chr7151513300151513350E06839882
chr7151515867151515995E06842449
chr7151516056151516154E06842638
chr7151519630151520376E06846212
chr7151520454151520513E06847036
chr7151520530151520676E06847112
chr7151520718151520988E06847300
chr7151520992151521942E06847574
chr7151522313151522370E06848895
chr7151522750151522858E06849332
chr7151522892151523119E06849474
chr7151432181151434111E069-39307
chr7151455009151455088E069-18330
chr7151455256151455327E069-18091
chr7151455392151455500E069-17918
chr7151455590151455658E069-17760
chr7151479532151479641E0696114
chr7151480667151480717E0697249
chr7151480956151481015E0697538
chr7151488176151488390E06914758
chr7151488434151488552E06915016
chr7151488625151488676E06915207
chr7151488757151488811E06915339
chr7151488939151488995E06915521
chr7151491463151491554E06918045
chr7151491594151491904E06918176
chr7151491912151492083E06918494
chr7151493225151493361E06919807
chr7151493435151493881E06920017
chr7151522313151522370E06948895
chr7151522750151522858E06949332
chr7151522892151523119E06949474
chr7151427821151428071E070-45347
chr7151428094151428620E070-44798
chr7151428659151428725E070-44693
chr7151428741151428822E070-44596
chr7151428915151429018E070-44400
chr7151429439151429571E070-43847
chr7151429616151429694E070-43724
chr7151429829151429903E070-43515
chr7151430055151430382E070-43036
chr7151430392151430574E070-42844
chr7151459305151459408E070-14010
chr7151459529151459600E070-13818
chr7151459659151460439E070-12979
chr7151489913151489979E07016495
chr7151511030151511126E07037612
chr7151512451151512491E07039033
chr7151522750151522858E07049332
chr7151522892151523119E07049474
chr7151439759151440661E071-32757
chr7151440680151441179E071-32239
chr7151451839151452955E071-20463
chr7151453010151453822E071-19596
chr7151453932151454060E071-19358
chr7151454119151454895E071-18523
chr7151472346151472412E071-1006
chr7151479532151479641E0716114
chr7151489226151489489E07115808
chr7151489705151489790E07116287
chr7151489794151489903E07116376
chr7151489913151489979E07116495
chr7151491912151492083E07118494
chr7151492116151492926E07118698
chr7151493225151493361E07119807
chr7151493435151493881E07120017
chr7151494058151495178E07120640
chr7151520718151520988E07147300
chr7151520992151521942E07147574
chr7151522313151522370E07148895
chr7151522892151523119E07149474
chr7151432181151434111E072-39307
chr7151439759151440661E072-32757
chr7151440680151441179E072-32239
chr7151453010151453822E072-19596
chr7151453932151454060E072-19358
chr7151454119151454895E072-18523
chr7151455659151455729E072-17689
chr7151479532151479641E0726114
chr7151493225151493361E07219807
chr7151493435151493881E07220017
chr7151515670151515720E07242252
chr7151522313151522370E07248895
chr7151522750151522858E07249332
chr7151522892151523119E07249474
chr7151423530151423768E073-49650
chr7151423805151424006E073-49412
chr7151424146151424254E073-49164
chr7151424398151424515E073-48903
chr7151443198151443296E073-30122
chr7151443593151443842E073-29576
chr7151450993151451775E073-21643
chr7151451839151452955E073-20463
chr7151453010151453822E073-19596
chr7151453932151454060E073-19358
chr7151454119151454895E073-18523
chr7151455009151455088E073-18330
chr7151455256151455327E073-18091
chr7151455782151456362E073-17056
chr7151456434151457100E073-16318
chr7151457152151457218E073-16200
chr7151457257151457349E073-16069
chr7151460860151460990E073-12428
chr7151491151151491409E07317733
chr7151491463151491554E07318045
chr7151491594151491904E07318176
chr7151491912151492083E07318494
chr7151492116151492926E07318698
chr7151493225151493361E07319807
chr7151493435151493881E07320017
chr7151499022151499734E07325604
chr7151499741151499970E07326323
chr7151507922151508083E07334504
chr7151508171151508236E07334753
chr7151513058151513114E07339640
chr7151515559151515621E07342141
chr7151515670151515720E07342252
chr7151515867151515995E07342449
chr7151516056151516154E07342638
chr7151522313151522370E07348895
chr7151522750151522858E07349332
chr7151522892151523119E07349474
chr7151439759151440661E074-32757
chr7151440680151441179E074-32239
chr7151441316151441625E074-31793
chr7151451839151452955E074-20463
chr7151453010151453822E074-19596
chr7151453932151454060E074-19358
chr7151454119151454895E074-18523
chr7151455009151455088E074-18330
chr7151455256151455327E074-18091
chr7151455392151455500E074-17918
chr7151455590151455658E074-17760
chr7151455659151455729E074-17689
chr7151455782151456362E074-17056
chr7151491463151491554E07418045
chr7151491594151491904E07418176
chr7151493435151493881E07420017
chr7151515670151515720E07442252
chr7151520992151521942E07447574
chr7151522313151522370E07448895
chr7151522750151522858E07449332
chr7151522892151523119E07449474
chr7151423530151423768E081-49650
chr7151423805151424006E081-49412
chr7151424146151424254E081-49164
chr7151424398151424515E081-48903
chr7151424525151425590E081-47828
chr7151427610151427705E081-45713
chr7151427746151427800E081-45618
chr7151427821151428071E081-45347
chr7151428094151428620E081-44798
chr7151428659151428725E081-44693
chr7151428741151428822E081-44596
chr7151428915151429018E081-44400
chr7151429439151429571E081-43847
chr7151429616151429694E081-43724
chr7151453932151454060E081-19358
chr7151454119151454895E081-18523
chr7151455009151455088E081-18330
chr7151455256151455327E081-18091
chr7151455392151455500E081-17918
chr7151455590151455658E081-17760
chr7151455659151455729E081-17689
chr7151455782151456362E081-17056
chr7151456434151457100E081-16318
chr7151459043151459134E081-14284
chr7151459305151459408E081-14010
chr7151459529151459600E081-13818
chr7151459659151460439E081-12979
chr7151460507151460592E081-12826
chr7151460860151460990E081-12428
chr7151461067151461190E081-12228
chr7151461277151461363E081-12055
chr7151461384151461439E081-11979
chr7151461620151461787E081-11631
chr7151466873151467005E081-6413
chr7151467126151467302E081-6116
chr7151467317151467456E081-5962
chr7151467516151467658E081-5760
chr7151467705151467791E081-5627
chr7151467941151467991E081-5427
chr7151472752151472810E081-608
chr7151472840151473228E081-190
chr7151479532151479641E0816114
chr7151489226151489489E08115808
chr7151489705151489790E08116287
chr7151489794151489903E08116376
chr7151489913151489979E08116495
chr7151490111151490263E08116693
chr7151504987151506325E08131569
chr7151506372151506445E08132954
chr7151506511151506676E08133093
chr7151506889151506970E08133471
chr7151507469151507523E08134051
chr7151507663151507844E08134245
chr7151507922151508083E08134504
chr7151510504151510573E08137086
chr7151510626151510797E08137208
chr7151510812151510952E08137394
chr7151511030151511126E08137612
chr7151511157151512340E08137739
chr7151512451151512491E08139033
chr7151515867151515995E08142449
chr7151516056151516154E08142638
chr7151423530151423768E082-49650
chr7151427610151427705E082-45713
chr7151427746151427800E082-45618
chr7151427821151428071E082-45347
chr7151428094151428620E082-44798
chr7151454119151454895E082-18523
chr7151455009151455088E082-18330
chr7151455256151455327E082-18091
chr7151455392151455500E082-17918
chr7151455590151455658E082-17760
chr7151455659151455729E082-17689
chr7151455782151456362E082-17056
chr7151459659151460439E082-12979
chr7151460507151460592E082-12826
chr7151460860151460990E082-12428
chr7151461067151461190E082-12228
chr7151461277151461363E082-12055
chr7151461384151461439E082-11979
chr7151461620151461787E082-11631
chr7151461950151462011E082-11407
chr7151466873151467005E082-6413
chr7151467126151467302E082-6116
chr7151467317151467456E082-5962
chr7151467516151467658E082-5760
chr7151467705151467791E082-5627
chr7151504987151506325E08231569
chr7151510812151510952E08237394
chr7151512451151512491E08239033
chr7151520992151521942E08247574