rs10494419

Homo sapiens
T>G
PBX1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0043 (1309/29988,GnomAD)
G=0032 (955/29118,TOPMED)
G=0034 (172/5008,1000G)
G=0059 (229/3854,ALSPAC)
G=0059 (217/3708,TWINSUK)
chr1:164642664 (GRCh38.p7) (1q23.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.164642664T>G
GRCh37.p13 chr 1NC_000001.10:g.164611901T>G
PBX1 RefSeqGeneNG_028246.1:g.88305T>G

Gene: PBX1, pre-B-cell leukemia homeobox 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PBX1 transcript variant 2NM_001204961.1:c.N/AIntron Variant
PBX1 transcript variant 3NM_001204963.1:c.N/AIntron Variant
PBX1 transcript variant 1NM_002585.3:c.N/AIntron Variant
PBX1 transcript variant X1XM_005245228.3:c.N/AIntron Variant
PBX1 transcript variant X3XM_005245229.3:c.N/AIntron Variant
PBX1 transcript variant X2XM_011509590.1:c.N/AIntron Variant
PBX1 transcript variant X5XM_011509591.2:c.N/AIntron Variant
PBX1 transcript variant X6XM_011509592.1:c.N/AIntron Variant
PBX1 transcript variant X4XM_017001395.1:c.N/AIntron Variant
PBX1 transcript variant X7XM_017001396.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.994G=0.006
1000GenomesAmericanSub694T=0.980G=0.020
1000GenomesEast AsianSub1008T=0.961G=0.039
1000GenomesEuropeSub1006T=0.943G=0.057
1000GenomesGlobalStudy-wide5008T=0.966G=0.034
1000GenomesSouth AsianSub978T=0.950G=0.050
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.941G=0.059
The Genome Aggregation DatabaseAfricanSub8726T=0.988G=0.012
The Genome Aggregation DatabaseAmericanSub838T=0.980G=0.020
The Genome Aggregation DatabaseEast AsianSub1622T=0.971G=0.029
The Genome Aggregation DatabaseEuropeSub18500T=0.939G=0.060
The Genome Aggregation DatabaseGlobalStudy-wide29988T=0.956G=0.043
The Genome Aggregation DatabaseOtherSub302T=0.940G=0.060
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.967G=0.032
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.941G=0.059
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

P-Value

SNP ID p-value Traits Study
rs104944190.000212alcohol dependence21314694

eQTL of rs10494419 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 rs10494419 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 )
chr1164577352164577406E067-34495
chr1164578440164578815E067-33086
chr1164579926164580024E067-31877
chr1164580850164581817E067-30084
chr1164582403164582879E067-29022
chr1164583367164583453E067-28448
chr1164586479164586567E067-25334
chr1164586584164586874E067-25027
chr1164588512164588681E067-23220
chr1164588859164588942E067-22959
chr1164591260164592145E067-19756
chr1164592715164592861E067-19040
chr1164592871164593240E067-18661
chr1164593334164593384E067-18517
chr1164594235164594948E067-16953
chr1164598164164598329E067-13572
chr1164603217164603651E067-8250
chr1164603688164603743E067-8158
chr1164603751164603854E067-8047
chr1164603999164604242E067-7659
chr1164604409164604585E067-7316
chr1164604689164604772E067-7129
chr1164604797164604970E067-6931
chr1164604992164605370E067-6531
chr1164605443164605895E067-6006
chr1164605997164606109E067-5792
chr1164606252164606325E067-5576
chr1164606670164608588E067-3313
chr1164610063164610246E067-1655
chr1164610296164610508E067-1393
chr1164613676164613741E0671775
chr1164613749164614566E0671848
chr1164617374164617434E0675473
chr1164617567164617716E0675666
chr1164617725164617782E0675824
chr1164617874164618422E0675973
chr1164618485164618566E0676584
chr1164628229164628414E06716328
chr1164628517164628567E06716616
chr1164628628164628804E06716727
chr1164628834164630325E06716933
chr1164636910164637297E06725009
chr1164640642164641152E06728741
chr1164641303164641415E06729402
chr1164641656164641739E06729755
chr1164641917164642126E06730016
chr1164647613164647860E06735712
chr1164653920164653991E06742019
chr1164659002164659675E06747101
chr1164567625164567906E068-43995
chr1164568965164569051E068-42850
chr1164569071164569207E068-42694
chr1164570887164572391E068-39510
chr1164572565164572615E068-39286
chr1164572922164573021E068-38880
chr1164576743164576822E068-35079
chr1164577352164577406E068-34495
chr1164579926164580024E068-31877
chr1164582069164582132E068-29769
chr1164582403164582879E068-29022
chr1164583189164583319E068-28582
chr1164583367164583453E068-28448
chr1164583701164583822E068-28079
chr1164586479164586567E068-25334
chr1164586584164586874E068-25027
chr1164588512164588681E068-23220
chr1164591260164592145E068-19756
chr1164592309164592663E068-19238
chr1164592715164592861E068-19040
chr1164592871164593240E068-18661
chr1164593334164593384E068-18517
chr1164594235164594948E068-16953
chr1164603217164603651E068-8250
chr1164603688164603743E068-8158
chr1164603751164603854E068-8047
chr1164603999164604242E068-7659
chr1164604409164604585E068-7316
chr1164605443164605895E068-6006
chr1164605997164606109E068-5792
chr1164606252164606325E068-5576
chr1164606444164606554E068-5347
chr1164606670164608588E068-3313
chr1164613749164614566E0681848
chr1164620600164621316E0688699
chr1164627761164627921E06815860
chr1164628229164628414E06816328
chr1164628517164628567E06816616
chr1164628628164628804E06816727
chr1164628834164630325E06816933
chr1164639099164639188E06827198
chr1164639209164639288E06827308
chr1164639411164639628E06827510
chr1164640217164640261E06828316
chr1164640642164641152E06828741
chr1164641303164641415E06829402
chr1164641656164641739E06829755
chr1164641917164642126E06830016
chr1164644869164644992E06832968
chr1164647613164647860E06835712
chr1164659002164659675E06847101
chr1164579926164580024E069-31877
chr1164580850164581817E069-30084
chr1164582403164582879E069-29022
chr1164587571164587714E069-24187
chr1164588026164588109E069-23792
chr1164588164164588214E069-23687
chr1164588314164588369E069-23532
chr1164588512164588681E069-23220
chr1164591260164592145E069-19756
chr1164592309164592663E069-19238
chr1164592715164592861E069-19040
chr1164592871164593240E069-18661
chr1164593334164593384E069-18517
chr1164593625164594140E069-17761
chr1164594235164594948E069-16953
chr1164603217164603651E069-8250
chr1164603688164603743E069-8158
chr1164603751164603854E069-8047
chr1164603999164604242E069-7659
chr1164604409164604585E069-7316
chr1164604689164604772E069-7129
chr1164604797164604970E069-6931
chr1164604992164605370E069-6531
chr1164605443164605895E069-6006
chr1164605997164606109E069-5792
chr1164606252164606325E069-5576
chr1164606444164606554E069-5347
chr1164606670164608588E069-3313
chr1164610296164610508E069-1393
chr1164610576164610851E069-1050
chr1164613749164614566E0691848
chr1164614573164614879E0692672
chr1164617567164617716E0695666
chr1164617725164617782E0695824
chr1164617874164618422E0695973
chr1164628229164628414E06916328
chr1164628517164628567E06916616
chr1164628628164628804E06916727
chr1164628834164630325E06916933
chr1164631837164631948E06919936
chr1164632235164632416E06920334
chr1164640217164640261E06928316
chr1164640642164641152E06928741
chr1164641303164641415E06929402
chr1164641656164641739E06929755
chr1164641917164642126E06930016
chr1164642205164642281E06930304
chr1164642382164642507E06930481
chr1164647613164647860E06935712
chr1164659002164659675E06947101
chr1164561995164562088E070-49813
chr1164568524164568861E070-43040
chr1164568965164569051E070-42850
chr1164569071164569207E070-42694
chr1164570887164572391E070-39510
chr1164574572164574842E070-37059
chr1164574926164574983E070-36918
chr1164576743164576822E070-35079
chr1164577352164577406E070-34495
chr1164579926164580024E070-31877
chr1164580041164580168E070-31733
chr1164582403164582879E070-29022
chr1164583189164583319E070-28582
chr1164585914164586006E070-25895
chr1164586479164586567E070-25334
chr1164586584164586874E070-25027
chr1164586968164587070E070-24831
chr1164587165164587403E070-24498
chr1164587571164587714E070-24187
chr1164588026164588109E070-23792
chr1164588164164588214E070-23687
chr1164588314164588369E070-23532
chr1164588512164588681E070-23220
chr1164592309164592663E070-19238
chr1164592715164592861E070-19040
chr1164592871164593240E070-18661
chr1164593334164593384E070-18517
chr1164593625164594140E070-17761
chr1164594235164594948E070-16953
chr1164595900164595950E070-15951
chr1164596114164596180E070-15721
chr1164598164164598329E070-13572
chr1164598698164598752E070-13149
chr1164602996164603054E070-8847
chr1164603217164603651E070-8250
chr1164603688164603743E070-8158
chr1164603751164603854E070-8047
chr1164603999164604242E070-7659
chr1164604992164605370E070-6531
chr1164605443164605895E070-6006
chr1164606444164606554E070-5347
chr1164606670164608588E070-3313
chr1164608730164608829E070-3072
chr1164613676164613741E0701775
chr1164613749164614566E0701848
chr1164614573164614879E0702672
chr1164615977164616176E0704076
chr1164616487164616773E0704586
chr1164617374164617434E0705473
chr1164617567164617716E0705666
chr1164617725164617782E0705824
chr1164617874164618422E0705973
chr1164619907164620176E0708006
chr1164620600164621316E0708699
chr1164636241164636531E07024340
chr1164636910164637297E07025009
chr1164639411164639628E07027510
chr1164640217164640261E07028316
chr1164640642164641152E07028741
chr1164641303164641415E07029402
chr1164641656164641739E07029755
chr1164641917164642126E07030016
chr1164642205164642281E07030304
chr1164642382164642507E07030481
chr1164643847164643948E07031946
chr1164644071164644122E07032170
chr1164658884164658970E07046983
chr1164659002164659675E07047101
chr1164568524164568861E071-43040
chr1164568965164569051E071-42850
chr1164569071164569207E071-42694
chr1164569795164569971E071-41930
chr1164570017164570197E071-41704
chr1164570237164570322E071-41579
chr1164570607164570690E071-41211
chr1164570728164570836E071-41065
chr1164570887164572391E071-39510
chr1164572565164572615E071-39286
chr1164572922164573021E071-38880
chr1164574572164574842E071-37059
chr1164578318164578368E071-33533
chr1164578440164578815E071-33086
chr1164579926164580024E071-31877
chr1164580041164580168E071-31733
chr1164580221164580298E071-31603
chr1164580327164580399E071-31502
chr1164580850164581817E071-30084
chr1164582403164582879E071-29022
chr1164586479164586567E071-25334
chr1164586584164586874E071-25027
chr1164588164164588214E071-23687
chr1164588314164588369E071-23532
chr1164588512164588681E071-23220
chr1164588859164588942E071-22959
chr1164591260164592145E071-19756
chr1164594235164594948E071-16953
chr1164598164164598329E071-13572
chr1164599930164600280E071-11621
chr1164603217164603651E071-8250
chr1164603688164603743E071-8158
chr1164603751164603854E071-8047
chr1164603999164604242E071-7659
chr1164604409164604585E071-7316
chr1164605443164605895E071-6006
chr1164605997164606109E071-5792
chr1164606252164606325E071-5576
chr1164606444164606554E071-5347
chr1164606670164608588E071-3313
chr1164610063164610246E071-1655
chr1164610296164610508E071-1393
chr1164610576164610851E071-1050
chr1164613749164614566E0711848
chr1164617567164617716E0715666
chr1164617725164617782E0715824
chr1164617874164618422E0715973
chr1164618485164618566E0716584
chr1164618787164619023E0716886
chr1164620600164621316E0718699
chr1164627761164627921E07115860
chr1164628229164628414E07116328
chr1164628517164628567E07116616
chr1164628628164628804E07116727
chr1164628834164630325E07116933
chr1164640217164640261E07128316
chr1164640642164641152E07128741
chr1164641303164641415E07129402
chr1164641656164641739E07129755
chr1164641917164642126E07130016
chr1164642205164642281E07130304
chr1164642984164643395E07131083
chr1164643471164643552E07131570
chr1164647613164647860E07135712
chr1164567625164567906E072-43995
chr1164570887164572391E072-39510
chr1164572565164572615E072-39286
chr1164579926164580024E072-31877
chr1164580850164581817E072-30084
chr1164582069164582132E072-29769
chr1164582403164582879E072-29022
chr1164586479164586567E072-25334
chr1164586584164586874E072-25027
chr1164588512164588681E072-23220
chr1164590699164590893E072-21008
chr1164591260164592145E072-19756
chr1164594235164594948E072-16953
chr1164603217164603651E072-8250
chr1164603688164603743E072-8158
chr1164603751164603854E072-8047
chr1164603999164604242E072-7659
chr1164604689164604772E072-7129
chr1164604797164604970E072-6931
chr1164604992164605370E072-6531
chr1164605443164605895E072-6006
chr1164605997164606109E072-5792
chr1164606670164608588E072-3313
chr1164620600164621316E0728699
chr1164627761164627921E07215860
chr1164628229164628414E07216328
chr1164628517164628567E07216616
chr1164628628164628804E07216727
chr1164628834164630325E07216933
chr1164639411164639628E07227510
chr1164640217164640261E07228316
chr1164640642164641152E07228741
chr1164641303164641415E07229402
chr1164641656164641739E07229755
chr1164641917164642126E07230016
chr1164642205164642281E07230304
chr1164642382164642507E07230481
chr1164642984164643395E07231083
chr1164643471164643552E07231570
chr1164647613164647860E07235712
chr1164659002164659675E07247101
chr1164570887164572391E073-39510
chr1164576743164576822E073-35079
chr1164579926164580024E073-31877
chr1164580850164581817E073-30084
chr1164582069164582132E073-29769
chr1164591260164592145E073-19756
chr1164592715164592861E073-19040
chr1164592871164593240E073-18661
chr1164593334164593384E073-18517
chr1164593625164594140E073-17761
chr1164599930164600280E073-11621
chr1164602996164603054E073-8847
chr1164603217164603651E073-8250
chr1164603688164603743E073-8158
chr1164603751164603854E073-8047
chr1164603999164604242E073-7659
chr1164604797164604970E073-6931
chr1164604992164605370E073-6531
chr1164605443164605895E073-6006
chr1164605997164606109E073-5792
chr1164606252164606325E073-5576
chr1164606444164606554E073-5347
chr1164606670164608588E073-3313
chr1164610063164610246E073-1655
chr1164610296164610508E073-1393
chr1164610576164610851E073-1050
chr1164617567164617716E0735666
chr1164617725164617782E0735824
chr1164617874164618422E0735973
chr1164628229164628414E07316328
chr1164628517164628567E07316616
chr1164628628164628804E07316727
chr1164640217164640261E07328316
chr1164640642164641152E07328741
chr1164641303164641415E07329402
chr1164641656164641739E07329755
chr1164658884164658970E07346983
chr1164659002164659675E07347101
chr1164570887164572391E074-39510
chr1164576743164576822E074-35079
chr1164577352164577406E074-34495
chr1164577776164577828E074-34073
chr1164577872164578277E074-33624
chr1164579926164580024E074-31877
chr1164580041164580168E074-31733
chr1164580221164580298E074-31603
chr1164580327164580399E074-31502
chr1164580850164581817E074-30084
chr1164582403164582879E074-29022
chr1164586479164586567E074-25334
chr1164586584164586874E074-25027
chr1164586968164587070E074-24831
chr1164587165164587403E074-24498
chr1164587571164587714E074-24187
chr1164588026164588109E074-23792
chr1164588164164588214E074-23687
chr1164588314164588369E074-23532
chr1164588512164588681E074-23220
chr1164591260164592145E074-19756
chr1164594235164594948E074-16953
chr1164599930164600280E074-11621
chr1164600651164600716E074-11185
chr1164603751164603854E074-8047
chr1164603999164604242E074-7659
chr1164604409164604585E074-7316
chr1164604689164604772E074-7129
chr1164604797164604970E074-6931
chr1164604992164605370E074-6531
chr1164605443164605895E074-6006
chr1164605997164606109E074-5792
chr1164606252164606325E074-5576
chr1164606444164606554E074-5347
chr1164606670164608588E074-3313
chr1164610063164610246E074-1655
chr1164610296164610508E074-1393
chr1164610576164610851E074-1050
chr1164620600164621316E0748699
chr1164627035164627101E07415134
chr1164627761164627921E07415860
chr1164628229164628414E07416328
chr1164628517164628567E07416616
chr1164628628164628804E07416727
chr1164628834164630325E07416933
chr1164631837164631948E07419936
chr1164640217164640261E07428316
chr1164640642164641152E07428741
chr1164641303164641415E07429402
chr1164641656164641739E07429755
chr1164643471164643552E07431570
chr1164643847164643948E07431946
chr1164647613164647860E07435712
chr1164658884164658970E07446983
chr1164659002164659675E07447101
chr1164567946164568268E081-43633
chr1164568524164568861E081-43040
chr1164568965164569051E081-42850
chr1164569071164569207E081-42694
chr1164570887164572391E081-39510
chr1164572565164572615E081-39286
chr1164572922164573021E081-38880
chr1164579926164580024E081-31877
chr1164580041164580168E081-31733
chr1164580221164580298E081-31603
chr1164580327164580399E081-31502
chr1164580850164581817E081-30084
chr1164582069164582132E081-29769
chr1164582403164582879E081-29022
chr1164583189164583319E081-28582
chr1164583367164583453E081-28448
chr1164584984164585253E081-26648
chr1164585355164585526E081-26375
chr1164585687164585737E081-26164
chr1164585914164586006E081-25895
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