rs1476118

Homo sapiens
C>A / C>T
EXOC4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0104 (3134/29964,GnomAD)
T=0096 (2819/29118,TOPMED)
T=0068 (343/5008,1000G)
T=0130 (500/3854,ALSPAC)
T=0125 (465/3708,TWINSUK)
chr7:133790019 (GRCh38.p7) (7q33)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.133790019C>A
GRCh38.p7 chr 7NC_000007.14:g.133790019C>T
GRCh37.p13 chr 7NC_000007.13:g.133474772C>A
GRCh37.p13 chr 7NC_000007.13:g.133474772C>T

Gene: EXOC4, exocyst complex component 4(plus strand)

Molecule type Change Amino acid[Codon] SO Term
EXOC4 transcript variant 1NM_021807.3:c.N/AIntron Variant
EXOC4 transcript variant 2NM_001037126.1:c.N/AGenic Downstream Transcript Variant
EXOC4 transcript variant X2XM_017012494.1:c.N/AIntron Variant
EXOC4 transcript variant X4XM_005250523.4:c.N/AGenic Downstream Transcript Variant
EXOC4 transcript variant X3XM_017012495.1:c.N/AGenic Downstream Transcript Variant
EXOC4 transcript variant X1XR_001744845.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.934T=0.066
1000GenomesAmericanSub694C=0.930T=0.070
1000GenomesEast AsianSub1008C=0.999T=0.001
1000GenomesEuropeSub1006C=0.879T=0.121
1000GenomesGlobalStudy-wide5008C=0.932T=0.068
1000GenomesSouth AsianSub978C=0.910T=0.090
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.870T=0.130
The Genome Aggregation DatabaseAfricanSub8720C=0.922A=0.000
The Genome Aggregation DatabaseAmericanSub836C=0.960A=0.00,
The Genome Aggregation DatabaseEast AsianSub1616C=0.991A=0.000
The Genome Aggregation DatabaseEuropeSub18490C=0.870A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29964C=0.895A=0.000
The Genome Aggregation DatabaseOtherSub302C=0.910A=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.903T=0.096
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.875T=0.125
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs14761180.000125alcohol dependence20201924

eQTL of rs1476118 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr7:133474772EXOC4ENSG00000131558.10C>T7.1224e-6536943Cerebellum
Chr7:133474772EXOC4ENSG00000131558.10C>T1.4501e-3536943Caudate_basal_ganglia
Chr7:133474772EXOC4ENSG00000131558.10C>T5.6113e-5536943Hippocampus
Chr7:133474772EXOC4ENSG00000131558.10C>T1.4508e-3536943Putamen_basal_ganglia
Chr7:133474772EXOC4ENSG00000131558.10C>T4.5503e-4536943Anterior_cingulate_cortex

meQTL of rs1476118 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 )
chr726519062654989E067-24110
chr726561472659147E067-19952
chr726606772661234E067-17865
chr726612702662343E067-16756
chr726674652667805E067-11294
chr726678122668228E067-10871
chr726742842674621E067-4478
chr726746752674909E067-4190
chr726750072675096E067-4003
chr726751092675178E067-3921
chr726752972675362E067-3737
chr726753692675546E067-3553
chr726755612676209E067-2890
chr726762172676423E067-2676
chr726765042676826E067-2273
chr726768712677670E067-1429
chr726776792678524E067-575
chr726785402679264E0670
chr726793082679358E067209
chr726795252679584E067426
chr726795912679655E067492
chr726796912681789E067592
chr726830122683326E0673913
chr726833522683410E0674253
chr726834852683642E0674386
chr726836462683696E0674547
chr726837462683831E0674647
chr726838772684152E0674778
chr726841632684310E0675064
chr726843472684722E0675248
chr726847422685563E0675643
chr727019122703950E06722813
chr727191712719247E06740072
chr727195592719609E06740460
chr727197292719824E06740630
chr727200572720329E06740958
chr727203722720843E06741273
chr727210152721087E06741916
chr727212162721256E06742117
chr727213022721356E06742203
chr727214092721463E06742310
chr727216102721860E06742511
chr727219092722020E06742810
chr727220442722136E06742945
chr727222602722346E06743161
chr727224832722550E06743384
chr727225632722968E06743464
chr727268262726915E06747727
chr726519062654989E068-24110
chr726559772656096E068-23003
chr726561472659147E068-19952
chr726706302670680E068-8419
chr726755612676209E068-2890
chr726762172676423E068-2676
chr726765042676826E068-2273
chr726768712677670E068-1429
chr726776792678524E068-575
chr726785402679264E0680
chr726793082679358E068209
chr726795252679584E068426
chr726795912679655E068492
chr726796912681789E068592
chr726818622682069E0682763
chr726837462683831E0684647
chr726838772684152E0684778
chr726841632684310E0685064
chr726843472684722E0685248
chr726847422685563E0685643
chr727019122703950E06822813
chr727210152721087E06841916
chr727212162721256E06842117
chr727213022721356E06842203
chr727214092721463E06842310
chr727216102721860E06842511
chr727219092722020E06842810
chr727220442722136E06842945
chr727222602722346E06843161
chr727224832722550E06843384
chr727225632722968E06843464
chr726561472659147E069-19952
chr726606772661234E069-17865
chr726612702662343E069-16756
chr726623622663373E069-15726
chr726636802663782E069-15317
chr726637862663918E069-15181
chr726674652667805E069-11294
chr726742842674621E069-4478
chr726746752674909E069-4190
chr726750072675096E069-4003
chr726751092675178E069-3921
chr726752972675362E069-3737
chr726753692675546E069-3553
chr726755612676209E069-2890
chr726762172676423E069-2676
chr726765042676826E069-2273
chr726768712677670E069-1429
chr726776792678524E069-575
chr726785402679264E0690
chr726793082679358E069209
chr726795252679584E069426
chr726795912679655E069492
chr726796912681789E069592
chr726830122683326E0693913
chr726833522683410E0694253
chr726834852683642E0694386
chr726836462683696E0694547
chr726837462683831E0694647
chr726838772684152E0694778
chr726841632684310E0695064
chr726843472684722E0695248
chr726847422685563E0695643
chr727017142701874E06922615
chr727019122703950E06922813
chr727186012718655E06939502
chr727186622718789E06939563
chr727200572720329E06940958
chr727216102721860E06942511
chr727219092722020E06942810
chr727220442722136E06942945
chr727222602722346E06943161
chr727224832722550E06943384
chr727225632722968E06943464
chr726361832636646E070-42453
chr726367972636956E070-42143
chr726370412637248E070-41851
chr726416432641719E070-37380
chr726419112642480E070-36619
chr726457682645926E070-33173
chr726460152646086E070-33013
chr726461452646221E070-32878
chr726462342646375E070-32724
chr726463822646670E070-32429
chr726467282647340E070-31759
chr726473472647439E070-31660
chr726474632647742E070-31357
chr726491622649272E070-29827
chr726494852649535E070-29564
chr726495452649595E070-29504
chr726502672650464E070-28635
chr726504872650970E070-28129
chr726509782651324E070-27775
chr726513412651524E070-27575
chr726515352651612E070-27487
chr726516222651885E070-27214
chr726559772656096E070-23003
chr726593422659473E070-19626
chr726606772661234E070-17865
chr726612702662343E070-16756
chr726623622663373E070-15726
chr726793082679358E070209
chr726795252679584E070426
chr726795912679655E070492
chr726830122683326E0703913
chr726833522683410E0704253
chr726834852683642E0704386
chr726837462683831E0704647
chr726838772684152E0704778
chr726841632684310E0705064
chr726843472684722E0705248
chr726847422685563E0705643
chr727019122703950E07022813
chr727197292719824E07040630
chr727200572720329E07040958
chr727203722720843E07041273
chr727210152721087E07041916
chr727212162721256E07042117
chr727213022721356E07042203
chr727214092721463E07042310
chr727216102721860E07042511
chr727219092722020E07042810
chr727220442722136E07042945
chr727222602722346E07043161
chr727224832722550E07043384
chr727225632722968E07043464
chr726491622649272E071-29827
chr726561472659147E071-19952
chr726606772661234E071-17865
chr726612702662343E071-16756
chr726623622663373E071-15726
chr726636802663782E071-15317
chr726637862663918E071-15181
chr726659392666867E071-12232
chr726669482667013E071-12086
chr726670692667240E071-11859
chr726672782667344E071-11755
chr726673682667460E071-11639
chr726674652667805E071-11294
chr726678122668228E071-10871
chr726684182668460E071-10639
chr726685212668561E071-10538
chr726687482668792E071-10307
chr726693702669750E071-9349
chr726697882670497E071-8602
chr726705002670577E071-8522
chr726706302670680E071-8419
chr726742842674621E071-4478
chr726746752674909E071-4190
chr726750072675096E071-4003
chr726751092675178E071-3921
chr726752972675362E071-3737
chr726753692675546E071-3553
chr726755612676209E071-2890
chr726762172676423E071-2676
chr726765042676826E071-2273
chr726768712677670E071-1429
chr726776792678524E071-575
chr726785402679264E0710
chr726793082679358E071209
chr726795252679584E071426
chr726795912679655E071492
chr726796912681789E071592
chr726818622682069E0712763
chr726830122683326E0713913
chr726833522683410E0714253
chr726834852683642E0714386
chr726836462683696E0714547
chr726837462683831E0714647
chr726838772684152E0714778
chr726841632684310E0715064
chr726843472684722E0715248
chr726847422685563E0715643
chr727019122703950E07122813
chr727057562705849E07126657
chr727059232706153E07126824
chr727105522711035E07131453
chr727110632711308E07131964
chr727186012718655E07139502
chr727186622718789E07139563
chr727200572720329E07140958
chr727203722720843E07141273
chr727210152721087E07141916
chr727212162721256E07142117
chr727213022721356E07142203
chr727214092721463E07142310
chr727216102721860E07142511
chr727219092722020E07142810
chr727220442722136E07142945
chr727222602722346E07143161
chr727224832722550E07143384
chr727225632722968E07143464
chr726519062654989E072-24110
chr726559772656096E072-23003
chr726561472659147E072-19952
chr726606772661234E072-17865
chr726612702662343E072-16756
chr726623622663373E072-15726
chr726636802663782E072-15317
chr726637862663918E072-15181
chr726673682667460E072-11639
chr726674652667805E072-11294
chr726678122668228E072-10871
chr726692412669316E072-9783
chr726693702669750E072-9349
chr726742842674621E072-4478
chr726746752674909E072-4190
chr726750072675096E072-4003
chr726751092675178E072-3921
chr726752972675362E072-3737
chr726753692675546E072-3553
chr726755612676209E072-2890
chr726762172676423E072-2676
chr726765042676826E072-2273
chr726768712677670E072-1429
chr726776792678524E072-575
chr726785402679264E0720
chr726793082679358E072209
chr726795252679584E072426
chr726795912679655E072492
chr726796912681789E072592
chr726830122683326E0723913
chr726833522683410E0724253
chr726834852683642E0724386
chr726836462683696E0724547
chr726837462683831E0724647
chr726838772684152E0724778
chr726841632684310E0725064
chr726843472684722E0725248
chr726847422685563E0725643
chr727017142701874E07222615
chr727019122703950E07222813
chr727105522711035E07231453
chr727200572720329E07240958
chr727203722720843E07241273
chr727210152721087E07241916
chr727212162721256E07242117
chr727213022721356E07242203
chr727214092721463E07242310
chr727216102721860E07242511
chr727219092722020E07242810
chr727220442722136E07242945
chr727222602722346E07243161
chr727224832722550E07243384
chr727225632722968E07243464
chr726455762645751E073-33348
chr726457682645926E073-33173
chr726460152646086E073-33013
chr726461452646221E073-32878
chr726462342646375E073-32724
chr726463822646670E073-32429
chr726467282647340E073-31759
chr726561472659147E073-19952
chr726606772661234E073-17865
chr726612702662343E073-16756
chr726623622663373E073-15726
chr726742842674621E073-4478
chr726746752674909E073-4190
chr726750072675096E073-4003
chr726751092675178E073-3921
chr726752972675362E073-3737
chr726753692675546E073-3553
chr726755612676209E073-2890
chr726762172676423E073-2676
chr726765042676826E073-2273
chr726776792678524E073-575
chr726785402679264E0730
chr726793082679358E073209
chr726795252679584E073426
chr726795912679655E073492
chr726796912681789E073592
chr726830122683326E0733913
chr726833522683410E0734253
chr726834852683642E0734386
chr726836462683696E0734547
chr726837462683831E0734647
chr726838772684152E0734778
chr726841632684310E0735064
chr726843472684722E0735248
chr726847422685563E0735643
chr726997322700716E07320633
chr727019122703950E07322813
chr727191712719247E07340072
chr727195592719609E07340460
chr727197292719824E07340630
chr727200572720329E07340958
chr727203722720843E07341273
chr727210152721087E07341916
chr727212162721256E07342117
chr727213022721356E07342203
chr727214092721463E07342310
chr727216102721860E07342511
chr727219092722020E07342810
chr727220442722136E07342945
chr727222602722346E07343161
chr727224832722550E07343384
chr727225632722968E07343464
chr726519062654989E074-24110
chr726561472659147E074-19952
chr726606772661234E074-17865
chr726612702662343E074-16756
chr726623622663373E074-15726
chr726636802663782E074-15317
chr726637862663918E074-15181
chr726669482667013E074-12086
chr726670692667240E074-11859
chr726672782667344E074-11755
chr726673682667460E074-11639
chr726674652667805E074-11294
chr726742842674621E074-4478
chr726746752674909E074-4190
chr726750072675096E074-4003
chr726751092675178E074-3921
chr726752972675362E074-3737
chr726753692675546E074-3553
chr726755612676209E074-2890
chr726762172676423E074-2676
chr726785402679264E0740
chr726793082679358E074209
chr726795252679584E074426
chr726795912679655E074492
chr726796912681789E074592
chr726818622682069E0742763
chr726838772684152E0744778
chr726841632684310E0745064
chr726843472684722E0745248
chr727015142701652E07422415
chr727017142701874E07422615
chr727019122703950E07422813
chr727194552719516E07440356
chr727195592719609E07440460
chr727197292719824E07440630
chr727200572720329E07440958
chr727203722720843E07441273
chr727210152721087E07441916
chr727212162721256E07442117
chr727213022721356E07442203
chr727214092721463E07442310
chr727216102721860E07442511
chr727219092722020E07442810
chr727220442722136E07442945
chr727222602722346E07443161
chr727224832722550E07443384
chr727225632722968E07443464
chr726355572635607E081-43492
chr726358482635924E081-43175
chr726361832636646E081-42453
chr726367972636956E081-42143
chr726370412637248E081-41851
chr726460152646086E081-33013
chr726461452646221E081-32878
chr726462342646375E081-32724
chr726463822646670E081-32429
chr726467282647340E081-31759
chr726473472647439E081-31660
chr726496602649873E081-29226
chr726499452650082E081-29017
chr726502672650464E081-28635
chr726504872650970E081-28129
chr726509782651324E081-27775
chr726513412651524E081-27575
chr726515352651612E081-27487
chr726516222651885E081-27214
chr726519062654989E081-24110
chr726550592655129E081-23970
chr726559772656096E081-23003
chr726561472659147E081-19952
chr726593422659473E081-19626
chr726606772661234E081-17865
chr726612702662343E081-16756
chr726623622663373E081-15726
chr726669482667013E081-12086
chr726670692667240E081-11859
chr726672782667344E081-11755
chr726673682667460E081-11639
chr726706302670680E081-8419
chr726742842674621E081-4478
chr726746752674909E081-4190
chr726750072675096E081-4003
chr726751092675178E081-3921
chr726752972675362E081-3737
chr726753692675546E081-3553
chr726755612676209E081-2890
chr726762172676423E081-2676
chr726765042676826E081-2273
chr726768712677670E081-1429
chr726776792678524E081-575
chr726785402679264E0810
chr726793082679358E081209
chr726795252679584E081426
chr726795912679655E081492
chr726796912681789E081592
chr726830122683326E0813913
chr726833522683410E0814253
chr726834852683642E0814386
chr726836462683696E0814547
chr726837462683831E0814647
chr726838772684152E0814778
chr726841632684310E0815064
chr726843472684722E0815248
chr726847422685563E0815643
chr726978142697873E08118715
chr726978762697926E08118777
chr726981142698168E08119015
chr726982282698326E08119129
chr726985612698650E08119462
chr726987072698747E08119608
chr726987802698821E08119681
chr726988902698939E08119791
chr726991672699288E08120068
chr726993612699411E08120262
chr726994472699690E08120348
chr726997322700716E08120633
chr727007472700943E08121648
chr727009532701036E08121854
chr727010562701132E08121957
chr727011882701373E08122089
chr727013802701498E08122281
chr727015142701652E08122415
chr727017142701874E08122615
chr727019122703950E08122813
chr727039522704050E08124853
chr727186012718655E08139502
chr727186622718789E08139563
chr727191712719247E08140072
chr727194552719516E08140356
chr727195592719609E08140460
chr727197292719824E08140630
chr727200572720329E08140958
chr727203722720843E08141273
chr727210152721087E08141916
chr727212162721256E08142117
chr727213022721356E08142203
chr727214092721463E08142310
chr727216102721860E08142511
chr727219092722020E08142810
chr727220442722136E08142945
chr726367972636956E082-42143
chr726370412637248E082-41851
chr726516222651885E082-27214
chr726519062654989E082-24110
chr726559772656096E082-23003
chr726561472659147E082-19952
chr726606772661234E082-17865
chr726612702662343E082-16756
chr726697882670497E082-8602
chr726705002670577E082-8522
chr726706302670680E082-8419
chr726750072675096E082-4003
chr726751092675178E082-3921
chr726752972675362E082-3737
chr726785402679264E0820
chr726793082679358E082209
chr726795252679584E082426
chr726795912679655E082492
chr726830122683326E0823913
chr726833522683410E0824253
chr726834852683642E0824386
chr726836462683696E0824547
chr726837462683831E0824647
chr726838772684152E0824778
chr726841632684310E0825064
chr726847422685563E0825643
chr727009532701036E08221854
chr727010562701132E08221957
chr727011882701373E08222089
chr727013802701498E08222281
chr727015142701652E08222415
chr727017142701874E08222615
chr727019122703950E08222813










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr727188462718952E06739747
chr727189662719076E06739867
chr727275902727640E06748491
chr727276692727891E06748570
chr727188462718952E06839747
chr727189662719076E06839867
chr727275902727640E06848491
chr727276692727891E06848570
chr727188462718952E06939747
chr727189662719076E06939867
chr727275902727640E06948491
chr727276692727891E06948570
chr727188462718952E07039747
chr727189662719076E07039867
chr727188462718952E07139747
chr727189662719076E07139867
chr727276692727891E07148570
chr727188462718952E07239747
chr727189662719076E07239867
chr727275902727640E07248491
chr727276692727891E07248570
chr727275902727640E07348491
chr727276692727891E07348570
chr727188462718952E07439747
chr727189662719076E07439867
chr727188462718952E08239747
chr727189662719076E08239867
chr727276692727891E08248570