rs750338

Homo sapiens
A>G
PKNOX2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0315 (9442/29894,GnomAD)
G=0334 (9743/29118,TOPMED)
G=0358 (1794/5008,1000G)
G=0227 (873/3854,ALSPAC)
G=0220 (816/3708,TWINSUK)
chr11:125302697 (GRCh38.p7) (11q24.2)
AD | ND
GWASdb2 | GWASCatalog
9   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.125302697A>G
GRCh37.p13 chr 11NC_000011.9:g.125172593A>G

Gene: PKNOX2, PBX/knotted 1 homeobox 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PKNOX2 transcriptNM_022062.2:c.N/AIntron Variant
PKNOX2 transcript variant X5XM_005271642.2:c.N/AIntron Variant
PKNOX2 transcript variant X12XM_006718894.2:c.N/AIntron Variant
PKNOX2 transcript variant X2XM_011542944.2:c.N/AIntron Variant
PKNOX2 transcript variant X6XM_011542945.2:c.N/AIntron Variant
PKNOX2 transcript variant X11XM_011542946.1:c.N/AIntron Variant
PKNOX2 transcript variant X13XM_011542947.2:c.N/AIntron Variant
PKNOX2 transcript variant X2XM_017018110.1:c.N/AIntron Variant
PKNOX2 transcript variant X14XM_017018111.1:c.N/AIntron Variant
PKNOX2 transcript variant X5XM_005271643.2:c.N/AGenic Upstream Transcript Variant
PKNOX2 transcript variant X10XM_017018112.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.495G=0.505
1000GenomesAmericanSub694A=0.840G=0.160
1000GenomesEast AsianSub1008A=0.451G=0.549
1000GenomesEuropeSub1006A=0.785G=0.215
1000GenomesGlobalStudy-wide5008A=0.642G=0.358
1000GenomesSouth AsianSub978A=0.750G=0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.773G=0.227
The Genome Aggregation DatabaseAfricanSub8706A=0.550G=0.450
The Genome Aggregation DatabaseAmericanSub836A=0.850G=0.150
The Genome Aggregation DatabaseEast AsianSub1618A=0.460G=0.540
The Genome Aggregation DatabaseEuropeSub18432A=0.757G=0.242
The Genome Aggregation DatabaseGlobalStudy-wide29894A=0.684G=0.315
The Genome Aggregation DatabaseOtherSub302A=0.810G=0.190
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.665G=0.334
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.780G=0.220
PMID Title Author Journal
26044620Gene network analysis shows immune-signaling and ERK1/2 as novel genetic markers for multiple addiction phenotypes: alcohol, smoking and opioid addiction.Reyes-Gibby CCBMC Syst Biol
22488850Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence.Zuo LAm J Med Genet B Neuropsychiatr Genet
21703634A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.Wang KSJ Psychiatr Res
21956439Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q.Zuo LNeuropsychopharmacology
25043041Neuropsychosocial profiles of current and future adolescent alcohol misusers.Whelan RNature
27151647An association study revealed substantial effects of dominance, epistasis and substance dependence co-morbidity on alcohol dependence symptom count.Chen GAddict Biol
20202923A genome-wide association study of alcohol dependence.Bierut LJProc Natl Acad Sci U S A
21298047The nuclear transcription factor PKNOX2 is a candidate gene for substance dependence in European-origin women.Chen XPLoS One
23691092Associations of prenatal nicotine exposure and the dopamine related genes ANKK1 and DRD2 to verbal language.Eicher JDPLoS One

P-Value

SNP ID p-value Traits Study
rs7503380.00000016alcohol and nictotine co-dependence22488850
rs7503380.000001alcohol dependence21703634
rs7503382.00E-06alcohol dependence27151647
rs7503380.00000239alcohol dependence20202923
rs7503380.0000075alcohol dependence21956439

eQTL of rs750338 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 rs750338 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 )
chr11125124157125124209E067-48384
chr11125124308125124396E067-48197
chr11125124482125124540E067-48053
chr11125124623125124683E067-47910
chr11125125867125126013E067-46580
chr11125126082125126382E067-46211
chr11125126422125126520E067-46073
chr11125126589125126840E067-45753
chr11125127025125127086E067-45507
chr11125127177125127340E067-45253
chr11125127436125127637E067-44956
chr11125131366125134290E067-38303
chr11125134307125134447E067-38146
chr11125154137125154597E067-17996
chr11125154599125154663E067-17930
chr11125154950125155095E067-17498
chr11125155397125155447E067-17146
chr11125155551125155600E067-16993
chr11125155731125156060E067-16533
chr11125156284125156367E067-16226
chr11125156412125156462E067-16131
chr11125156502125156739E067-15854
chr11125156835125156983E067-15610
chr11125157125125158152E067-14441
chr11125184527125185677E06711934
chr11125185752125186058E06713159
chr11125197278125197400E06724685
chr11125197429125197808E06724836
chr11125197863125198089E06725270
chr11125199654125199716E06727061
chr11125199752125199894E06727159
chr11125199945125200053E06727352
chr11125207750125208342E06735157
chr11125208410125209748E06735817
chr11125212818125213118E06740225
chr11125213124125214119E06740531
chr11125214121125214171E06741528
chr11125214301125214364E06741708
chr11125214476125214537E06741883
chr11125214635125214865E06742042
chr11125214900125214954E06742307
chr11125214979125215209E06742386
chr11125215284125216692E06742691
chr11125217879125219083E06745286
chr11125123692125123768E068-48825
chr11125123811125124019E068-48574
chr11125124062125124116E068-48477
chr11125124157125124209E068-48384
chr11125124308125124396E068-48197
chr11125131366125134290E068-38303
chr11125134307125134447E068-38146
chr11125140729125140962E068-31631
chr11125141374125141814E068-30779
chr11125141882125142369E068-30224
chr11125142474125142551E068-30042
chr11125142609125142707E068-29886
chr11125142726125142895E068-29698
chr11125142909125143089E068-29504
chr11125145806125146168E068-26425
chr11125156502125156739E068-15854
chr11125156835125156983E068-15610
chr11125157125125158152E068-14441
chr11125158209125158531E068-14062
chr11125158563125158637E068-13956
chr11125165680125165741E068-6852
chr11125165798125166315E068-6278
chr11125184138125184512E06811545
chr11125184527125185677E06811934
chr11125197278125197400E06824685
chr11125197429125197808E06824836
chr11125200181125200591E06827588
chr11125200614125200781E06828021
chr11125212818125213118E06840225
chr11125213124125214119E06840531
chr11125214121125214171E06841528
chr11125214301125214364E06841708
chr11125214476125214537E06841883
chr11125214635125214865E06842042
chr11125214900125214954E06842307
chr11125214979125215209E06842386
chr11125217879125219083E06845286
chr11125219104125219528E06846511
chr11125131366125134290E069-38303
chr11125141374125141814E069-30779
chr11125141882125142369E069-30224
chr11125159278125159318E069-13275
chr11125184527125185677E06911934
chr11125196971125197021E06924378
chr11125197154125197198E06924561
chr11125197278125197400E06924685
chr11125197429125197808E06924836
chr11125212818125213118E06940225
chr11125213124125214119E06940531
chr11125214121125214171E06941528
chr11125214301125214364E06941708
chr11125214476125214537E06941883
chr11125214635125214865E06942042
chr11125214900125214954E06942307
chr11125214979125215209E06942386
chr11125126422125126520E070-46073
chr11125126589125126840E070-45753
chr11125127025125127086E070-45507
chr11125127177125127340E070-45253
chr11125127436125127637E070-44956
chr11125127752125127839E070-44754
chr11125127924125128109E070-44484
chr11125128163125128343E070-44250
chr11125128357125128457E070-44136
chr11125128558125128627E070-43966
chr11125128634125128904E070-43689
chr11125129144125129194E070-43399
chr11125129198125129238E070-43355
chr11125129567125129729E070-42864
chr11125131366125134290E070-38303
chr11125139844125139930E070-32663
chr11125139967125140082E070-32511
chr11125140111125140218E070-32375
chr11125140313125140435E070-32158
chr11125140493125140543E070-32050
chr11125140729125140962E070-31631
chr11125141374125141814E070-30779
chr11125141882125142369E070-30224
chr11125142474125142551E070-30042
chr11125142609125142707E070-29886
chr11125142726125142895E070-29698
chr11125142909125143089E070-29504
chr11125143235125143299E070-29294
chr11125143305125143345E070-29248
chr11125146352125146431E070-26162
chr11125146644125146738E070-25855
chr11125149513125149598E070-22995
chr11125149752125149824E070-22769
chr11125150029125150118E070-22475
chr11125150133125150183E070-22410
chr11125150402125150461E070-22132
chr11125150463125150564E070-22029
chr11125150698125150752E070-21841
chr11125150858125150902E070-21691
chr11125150937125150994E070-21599
chr11125151060125151110E070-21483
chr11125151259125151402E070-21191
chr11125151570125151647E070-20946
chr11125154137125154597E070-17996
chr11125154599125154663E070-17930
chr11125154950125155095E070-17498
chr11125155397125155447E070-17146
chr11125155551125155600E070-16993
chr11125155731125156060E070-16533
chr11125156284125156367E070-16226
chr11125156412125156462E070-16131
chr11125156502125156739E070-15854
chr11125156835125156983E070-15610
chr11125157125125158152E070-14441
chr11125158209125158531E070-14062
chr11125158563125158637E070-13956
chr11125158912125159014E070-13579
chr11125159278125159318E070-13275
chr11125159472125159529E070-13064
chr11125159602125159652E070-12941
chr11125159703125159789E070-12804
chr11125159903125159947E070-12646
chr11125159997125160304E070-12289
chr11125160388125160543E070-12050
chr11125160575125160629E070-11964
chr11125161069125161151E070-11442
chr11125162463125162552E070-10041
chr11125162738125162839E070-9754
chr11125162967125163017E070-9576
chr11125163243125163339E070-9254
chr11125170592125171566E070-1027
chr11125173823125173887E0701230
chr11125173896125173950E0701303
chr11125174019125174116E0701426
chr11125174189125174375E0701596
chr11125174429125174517E0701836
chr11125174547125174649E0701954
chr11125183541125184056E07010948
chr11125184138125184512E07011545
chr11125184527125185677E07011934
chr11125185752125186058E07013159
chr11125203480125203777E07030887
chr11125203877125203927E07031284
chr11125204203125204253E07031610
chr11125204280125204330E07031687
chr11125211773125211860E07039180
chr11125212255125212748E07039662
chr11125212818125213118E07040225
chr11125213124125214119E07040531
chr11125214121125214171E07041528
chr11125214635125214865E07042042
chr11125214900125214954E07042307
chr11125214979125215209E07042386
chr11125215284125216692E07042691
chr11125216787125217043E07044194
chr11125217161125217852E07044568
chr11125217879125219083E07045286
chr11125220628125220714E07048035
chr11125220718125220768E07048125
chr11125220959125221065E07048366
chr11125126422125126520E071-46073
chr11125126589125126840E071-45753
chr11125134307125134447E071-38146
chr11125140729125140962E071-31631
chr11125141374125141814E071-30779
chr11125141882125142369E071-30224
chr11125142474125142551E071-30042
chr11125142609125142707E071-29886
chr11125142726125142895E071-29698
chr11125142909125143089E071-29504
chr11125156412125156462E071-16131
chr11125156502125156739E071-15854
chr11125156835125156983E071-15610
chr11125157125125158152E071-14441
chr11125158912125159014E071-13579
chr11125159278125159318E071-13275
chr11125159472125159529E071-13064
chr11125159602125159652E071-12941
chr11125159703125159789E071-12804
chr11125183541125184056E07110948
chr11125184138125184512E07111545
chr11125184527125185677E07111934
chr11125197278125197400E07124685
chr11125197429125197808E07124836
chr11125197863125198089E07125270
chr11125198161125198247E07125568
chr11125212818125213118E07140225
chr11125213124125214119E07140531
chr11125214121125214171E07141528
chr11125214301125214364E07141708
chr11125214476125214537E07141883
chr11125214635125214865E07142042
chr11125214900125214954E07142307
chr11125214979125215209E07142386
chr11125215284125216692E07142691
chr11125124157125124209E072-48384
chr11125124308125124396E072-48197
chr11125124482125124540E072-48053
chr11125125867125126013E072-46580
chr11125126082125126382E072-46211
chr11125126422125126520E072-46073
chr11125131366125134290E072-38303
chr11125134307125134447E072-38146
chr11125149513125149598E072-22995
chr11125157125125158152E072-14441
chr11125165680125165741E072-6852
chr11125165798125166315E072-6278
chr11125172344125172395E072-198
chr11125183541125184056E07210948
chr11125184138125184512E07211545
chr11125184527125185677E07211934
chr11125185752125186058E07213159
chr11125194679125194729E07222086
chr11125197278125197400E07224685
chr11125197429125197808E07224836
chr11125197863125198089E07225270
chr11125198161125198247E07225568
chr11125199654125199716E07227061
chr11125199752125199894E07227159
chr11125199945125200053E07227352
chr11125212818125213118E07240225
chr11125213124125214119E07240531
chr11125214121125214171E07241528
chr11125214301125214364E07241708
chr11125214476125214537E07241883
chr11125214635125214865E07242042
chr11125214900125214954E07242307
chr11125214979125215209E07242386
chr11125215284125216692E07242691
chr11125124062125124116E073-48477
chr11125124157125124209E073-48384
chr11125124308125124396E073-48197
chr11125124482125124540E073-48053
chr11125126082125126382E073-46211
chr11125126422125126520E073-46073
chr11125126589125126840E073-45753
chr11125127025125127086E073-45507
chr11125127177125127340E073-45253
chr11125131147125131207E073-41386
chr11125131366125134290E073-38303
chr11125134307125134447E073-38146
chr11125140111125140218E073-32375
chr11125140313125140435E073-32158
chr11125140493125140543E073-32050
chr11125140729125140962E073-31631
chr11125154599125154663E073-17930
chr11125165680125165741E073-6852
chr11125165798125166315E073-6278
chr11125184138125184512E07311545
chr11125184527125185677E07311934
chr11125185752125186058E07313159
chr11125203480125203777E07330887
chr11125207418125207472E07334825
chr11125207638125207692E07335045
chr11125207750125208342E07335157
chr11125208410125209748E07335817
chr11125211436125211573E07338843
chr11125211773125211860E07339180
chr11125212255125212748E07339662
chr11125212818125213118E07340225
chr11125213124125214119E07340531
chr11125214121125214171E07341528
chr11125214301125214364E07341708
chr11125214476125214537E07341883
chr11125214635125214865E07342042
chr11125214900125214954E07342307
chr11125214979125215209E07342386
chr11125215284125216692E07342691
chr11125216787125217043E07344194
chr11125217161125217852E07344568
chr11125217879125219083E07345286
chr11125219104125219528E07346511
chr11125219642125219919E07347049
chr11125219988125220051E07347395
chr11125221405125221630E07348812
chr11125221666125221758E07349073
chr11125131366125134290E074-38303
chr11125141374125141814E074-30779
chr11125141882125142369E074-30224
chr11125212818125213118E07440225
chr11125213124125214119E07440531
chr11125214121125214171E07441528
chr11125214301125214364E07441708
chr11125214476125214537E07441883
chr11125214635125214865E07442042
chr11125214900125214954E07442307
chr11125214979125215209E07442386
chr11125131366125134290E081-38303
chr11125149513125149598E081-22995
chr11125149752125149824E081-22769
chr11125150029125150118E081-22475
chr11125150133125150183E081-22410
chr11125150402125150461E081-22132
chr11125150463125150564E081-22029
chr11125150698125150752E081-21841
chr11125150858125150902E081-21691
chr11125150937125150994E081-21599
chr11125151060125151110E081-21483
chr11125151259125151402E081-21191
chr11125157125125158152E081-14441
chr11125158209125158531E081-14062
chr11125158563125158637E081-13956
chr11125165186125165250E081-7343
chr11125165300125165382E081-7211
chr11125165409125165486E081-7107
chr11125165680125165741E081-6852
chr11125165798125166315E081-6278
chr11125170592125171566E081-1027
chr11125173170125173361E081577
chr11125173572125173622E081979
chr11125173744125173794E0811151
chr11125173823125173887E0811230
chr11125173896125173950E0811303
chr11125174019125174116E0811426
chr11125174189125174375E0811596
chr11125174429125174517E0811836
chr11125174547125174649E0811954
chr11125174680125174773E0812087
chr11125174992125175042E0812399
chr11125184138125184512E08111545
chr11125184527125185677E08111934
chr11125185752125186058E08113159
chr11125200614125200781E08128021
chr11125200841125200933E08128248
chr11125203480125203777E08130887
chr11125208410125209748E08135817
chr11125209750125209946E08137157
chr11125211436125211573E08138843
chr11125211773125211860E08139180
chr11125212255125212748E08139662
chr11125212818125213118E08140225
chr11125213124125214119E08140531
chr11125214121125214171E08141528
chr11125214301125214364E08141708
chr11125214476125214537E08141883
chr11125214635125214865E08142042
chr11125214900125214954E08142307
chr11125214979125215209E08142386
chr11125215284125216692E08142691
chr11125216787125217043E08144194
chr11125217161125217852E08144568
chr11125217879125219083E08145286
chr11125219104125219528E08146511
chr11125219642125219919E08147049
chr11125219988125220051E08147395
chr11125220100125220150E08147507
chr11125220203125220294E08147610
chr11125220404125220571E08147811
chr11125220628125220714E08148035
chr11125220718125220768E08148125
chr11125220959125221065E08148366
chr11125221186125221403E08148593
chr11125128558125128627E082-43966
chr11125149513125149598E082-22995
chr11125149752125149824E082-22769
chr11125150029125150118E082-22475
chr11125150133125150183E082-22410
chr11125150402125150461E082-22132
chr11125150463125150564E082-22029
chr11125154137125154597E082-17996
chr11125154599125154663E082-17930
chr11125154950125155095E082-17498
chr11125157125125158152E082-14441
chr11125159472125159529E082-13064
chr11125173572125173622E082979
chr11125173744125173794E0821151
chr11125173823125173887E0821230
chr11125173896125173950E0821303
chr11125184138125184512E08211545
chr11125184527125185677E08211934
chr11125194679125194729E08222086
chr11125194772125194850E08222179
chr11125194965125195005E08222372
chr11125195168125195570E08222575
chr11125212255125212748E08239662
chr11125212818125213118E08240225
chr11125213124125214119E08240531
chr11125214121125214171E08241528
chr11125214301125214364E08241708
chr11125214476125214537E08241883
chr11125214635125214865E08242042
chr11125214900125214954E08242307
chr11125214979125215209E08242386
chr11125215284125216692E08242691
chr11125220959125221065E08248366
chr11125221186125221403E08248593