rs10224002

Homo sapiens
A>G
PRKAG2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0298 (8940/29922,GnomAD)
G=0326 (9496/29118,TOPMED)
G=0232 (1164/5008,1000G)
G=0283 (1092/3854,ALSPAC)
G=0274 (1017/3708,TWINSUK)
chr7:151717955 (GRCh38.p7) (7q36.1)
AD
GWASdb2
3   publication(s)
See rs on genome
273 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.151717955A>G
GRCh37.p13 chr 7NC_000007.13:g.151415041A>G
PRKAG2 RefSeqGeneNG_007486.1:g.164276T>C

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 dNM_001304527.1:c.N/AIntron Variant
PRKAG2 transcript variant aNM_016203.3:c.N/AIntron 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 X12XM_005250006.4: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 X13XM_017012273.1: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 X14XM_011516285.1:c.N/AGenic Upstream Transcript Variant
PRKAG2 transcript variant X16XM_011516286.1: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
1000GenomesAfricanSub1322A=0.557G=0.443
1000GenomesAmericanSub694A=0.810G=0.190
1000GenomesEast AsianSub1008A=0.939G=0.061
1000GenomesEuropeSub1006A=0.702G=0.298
1000GenomesGlobalStudy-wide5008A=0.768G=0.232
1000GenomesSouth AsianSub978A=0.920G=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.717G=0.283
The Genome Aggregation DatabaseAfricanSub8696A=0.583G=0.417
The Genome Aggregation DatabaseAmericanSub838A=0.830G=0.170
The Genome Aggregation DatabaseEast AsianSub1622A=0.955G=0.045
The Genome Aggregation DatabaseEuropeSub18464A=0.730G=0.269
The Genome Aggregation DatabaseGlobalStudy-wide29922A=0.701G=0.298
The Genome Aggregation DatabaseOtherSub302A=0.620G=0.380
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.673G=0.326
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.726G=0.274
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res
19862010Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.Ganesh SKNat Genet
21153663Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans.Lo KSHum Genet

P-Value

SNP ID p-value Traits Study
rs102240020.000728alcohol dependence21314694

eQTL of rs10224002 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 rs10224002 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 )
chr7151377027151377716E067-37325
chr7151377842151378288E067-36753
chr7151391551151392779E067-22262
chr7151392784151394797E067-20244
chr7151434188151434257E06719147
chr7151377027151377716E068-37325
chr7151377842151378288E068-36753
chr7151378306151378356E068-36685
chr7151378448151378577E068-36464
chr7151378694151378744E068-36297
chr7151378836151378892E068-36149
chr7151379703151379837E068-35204
chr7151380061151380115E068-34926
chr7151380118151380341E068-34700
chr7151380430151380717E068-34324
chr7151380738151380864E068-34177
chr7151380869151381752E068-33289
chr7151383979151385730E068-29311
chr7151386412151387261E068-27780
chr7151387305151387716E068-27325
chr7151391551151392779E068-22262
chr7151392784151394797E068-20244
chr7151402376151403389E068-11652
chr7151414860151414949E068-92
chr7151414996151415079E0680
chr7151415122151415225E06881
chr7151415882151415940E068841
chr7151415958151417709E068917
chr7151422662151422712E0687621
chr7151422898151423482E0687857
chr7151423530151423768E0688489
chr7151432181151434111E06817140
chr7151440680151441179E06825639
chr7151453010151453822E06837969
chr7151453932151454060E06838891
chr7151454119151454895E06839078
chr7151455009151455088E06839968
chr7151455256151455327E06840215
chr7151455392151455500E06840351
chr7151455590151455658E06840549
chr7151377027151377716E069-37325
chr7151377842151378288E069-36753
chr7151380118151380341E069-34700
chr7151380430151380717E069-34324
chr7151380738151380864E069-34177
chr7151380869151381752E069-33289
chr7151392784151394797E069-20244
chr7151401698151402231E069-12810
chr7151402376151403389E069-11652
chr7151404201151404337E069-10704
chr7151414193151414372E069-669
chr7151414421151414859E069-182
chr7151414860151414949E069-92
chr7151414996151415079E0690
chr7151415122151415225E06981
chr7151432181151434111E06917140
chr7151455009151455088E06939968
chr7151455256151455327E06940215
chr7151455392151455500E06940351
chr7151455590151455658E06940549
chr7151376007151376057E070-38984
chr7151376127151376525E070-38516
chr7151391551151392779E070-22262
chr7151392784151394797E070-20244
chr7151401467151401577E070-13464
chr7151401698151402231E070-12810
chr7151402376151403389E070-11652
chr7151427821151428071E07012780
chr7151428094151428620E07013053
chr7151428659151428725E07013618
chr7151428741151428822E07013700
chr7151428915151429018E07013874
chr7151429439151429571E07014398
chr7151429616151429694E07014575
chr7151429829151429903E07014788
chr7151430055151430382E07015014
chr7151430392151430574E07015351
chr7151459305151459408E07044264
chr7151459529151459600E07044488
chr7151459659151460439E07044618
chr7151379703151379837E071-35204
chr7151380061151380115E071-34926
chr7151380118151380341E071-34700
chr7151380430151380717E071-34324
chr7151380738151380864E071-34177
chr7151380869151381752E071-33289
chr7151391551151392779E071-22262
chr7151392784151394797E071-20244
chr7151439759151440661E07124718
chr7151440680151441179E07125639
chr7151451839151452955E07136798
chr7151453010151453822E07137969
chr7151453932151454060E07138891
chr7151454119151454895E07139078
chr7151376007151376057E072-38984
chr7151376127151376525E072-38516
chr7151377027151377716E072-37325
chr7151377842151378288E072-36753
chr7151378306151378356E072-36685
chr7151378448151378577E072-36464
chr7151378694151378744E072-36297
chr7151380118151380341E072-34700
chr7151380430151380717E072-34324
chr7151380738151380864E072-34177
chr7151380869151381752E072-33289
chr7151385816151385932E072-29109
chr7151385992151386077E072-28964
chr7151387305151387716E072-27325
chr7151387751151387994E072-27047
chr7151391551151392779E072-22262
chr7151392784151394797E072-20244
chr7151402376151403389E072-11652
chr7151414421151414859E072-182
chr7151414860151414949E072-92
chr7151414996151415079E0720
chr7151415122151415225E07281
chr7151432181151434111E07217140
chr7151439759151440661E07224718
chr7151440680151441179E07225639
chr7151453010151453822E07237969
chr7151453932151454060E07238891
chr7151454119151454895E07239078
chr7151455659151455729E07240618
chr7151380118151380341E073-34700
chr7151380430151380717E073-34324
chr7151380738151380864E073-34177
chr7151386412151387261E073-27780
chr7151387305151387716E073-27325
chr7151387751151387994E073-27047
chr7151391551151392779E073-22262
chr7151392784151394797E073-20244
chr7151401698151402231E073-12810
chr7151402376151403389E073-11652
chr7151403435151403927E073-11114
chr7151403985151404054E073-10987
chr7151404121151404179E073-10862
chr7151408716151410277E073-4764
chr7151414421151414859E073-182
chr7151414860151414949E073-92
chr7151414996151415079E0730
chr7151422898151423482E0737857
chr7151423530151423768E0738489
chr7151423805151424006E0738764
chr7151424146151424254E0739105
chr7151424398151424515E0739357
chr7151443198151443296E07328157
chr7151443593151443842E07328552
chr7151450993151451775E07335952
chr7151451839151452955E07336798
chr7151453010151453822E07337969
chr7151453932151454060E07338891
chr7151454119151454895E07339078
chr7151455009151455088E07339968
chr7151455256151455327E07340215
chr7151455782151456362E07340741
chr7151456434151457100E07341393
chr7151457152151457218E07342111
chr7151457257151457349E07342216
chr7151460860151460990E07345819
chr7151377027151377716E074-37325
chr7151380430151380717E074-34324
chr7151380738151380864E074-34177
chr7151380869151381752E074-33289
chr7151391551151392779E074-22262
chr7151392784151394797E074-20244
chr7151402376151403389E074-11652
chr7151439759151440661E07424718
chr7151440680151441179E07425639
chr7151441316151441625E07426275
chr7151451839151452955E07436798
chr7151453010151453822E07437969
chr7151453932151454060E07438891
chr7151454119151454895E07439078
chr7151455009151455088E07439968
chr7151455256151455327E07440215
chr7151455392151455500E07440351
chr7151455590151455658E07440549
chr7151455659151455729E07440618
chr7151455782151456362E07440741
chr7151373740151373815E081-41226
chr7151373972151374033E081-41008
chr7151374139151374182E081-40859
chr7151375752151375835E081-39206
chr7151376007151376057E081-38984
chr7151376127151376525E081-38516
chr7151377027151377716E081-37325
chr7151377842151378288E081-36753
chr7151386412151387261E081-27780
chr7151387305151387716E081-27325
chr7151389545151390577E081-24464
chr7151391551151392779E081-22262
chr7151392784151394797E081-20244
chr7151394803151395357E081-19684
chr7151401698151402231E081-12810
chr7151402376151403389E081-11652
chr7151403435151403927E081-11114
chr7151403985151404054E081-10987
chr7151404121151404179E081-10862
chr7151404201151404337E081-10704
chr7151404638151404822E081-10219
chr7151410372151410412E081-4629
chr7151417888151417962E0812847
chr7151418173151418244E0813132
chr7151418278151418442E0813237
chr7151418799151419112E0813758
chr7151419361151419687E0814320
chr7151419786151419935E0814745
chr7151422351151422499E0817310
chr7151422662151422712E0817621
chr7151422898151423482E0817857
chr7151423530151423768E0818489
chr7151423805151424006E0818764
chr7151424146151424254E0819105
chr7151424398151424515E0819357
chr7151424525151425590E0819484
chr7151427610151427705E08112569
chr7151427746151427800E08112705
chr7151427821151428071E08112780
chr7151428094151428620E08113053
chr7151428659151428725E08113618
chr7151428741151428822E08113700
chr7151428915151429018E08113874
chr7151429439151429571E08114398
chr7151429616151429694E08114575
chr7151453932151454060E08138891
chr7151454119151454895E08139078
chr7151455009151455088E08139968
chr7151455256151455327E08140215
chr7151455392151455500E08140351
chr7151455590151455658E08140549
chr7151455659151455729E08140618
chr7151455782151456362E08140741
chr7151456434151457100E08141393
chr7151459043151459134E08144002
chr7151459305151459408E08144264
chr7151459529151459600E08144488
chr7151459659151460439E08144618
chr7151460507151460592E08145466
chr7151460860151460990E08145819
chr7151461067151461190E08146026
chr7151461277151461363E08146236
chr7151461384151461439E08146343
chr7151461620151461787E08146579
chr7151386412151387261E082-27780
chr7151387305151387716E082-27325
chr7151391551151392779E082-22262
chr7151392784151394797E082-20244
chr7151401467151401577E082-13464
chr7151401698151402231E082-12810
chr7151402376151403389E082-11652
chr7151403435151403927E082-11114
chr7151422662151422712E0827621
chr7151422898151423482E0827857
chr7151423530151423768E0828489
chr7151427610151427705E08212569
chr7151427746151427800E08212705
chr7151427821151428071E08212780
chr7151428094151428620E08213053
chr7151454119151454895E08239078
chr7151455009151455088E08239968
chr7151455256151455327E08240215
chr7151455392151455500E08240351
chr7151455590151455658E08240549
chr7151455659151455729E08240618
chr7151455782151456362E08240741
chr7151459659151460439E08244618
chr7151460507151460592E08245466
chr7151460860151460990E08245819
chr7151461067151461190E08246026
chr7151461277151461363E08246236
chr7151461384151461439E08246343
chr7151461620151461787E08246579
chr7151461950151462011E08246909