rs30454

Homo sapiens
G>A
SAMD4B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0284 (8518/29912,GnomAD)
A=0389 (11329/29118,TOPMED)
A=0296 (1481/5008,1000G)
A=0106 (410/3854,ALSPAC)
A=0098 (363/3708,TWINSUK)
chr19:39353536 (GRCh38.p7) (19q13.2)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.39353536G>A
GRCh37.p13 chr 19NC_000019.9:g.39844176G>A

Gene: SAMD4B, sterile alpha motif domain containing 4B(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SAMD4B transcript variant 2NM_001303614.1:c.N/AIntron Variant
SAMD4B transcript variant 1NM_018028.3:c.N/AIntron Variant
SAMD4B transcript variant X1XM_011527057.2:c.N/AIntron Variant
SAMD4B transcript variant X4XM_011527060.2:c.N/AIntron Variant
SAMD4B transcript variant X6XM_011527062.2:c.N/AIntron Variant
SAMD4B transcript variant X7XM_011527063.2:c.N/AIntron Variant
SAMD4B transcript variant X12XM_011527064.2:c.N/AIntron Variant
SAMD4B transcript variant X3XM_017026919.1:c.N/AIntron Variant
SAMD4B transcript variant X8XM_017026920.1:c.N/AIntron Variant
SAMD4B transcript variant X9XM_017026921.1:c.N/AIntron Variant
SAMD4B transcript variant X10XM_017026922.1:c.N/AIntron Variant
SAMD4B transcript variant X11XM_017026923.1:c.N/AIntron Variant
SAMD4B transcript variant X5XM_011527061.2:c.N/AGenic Upstream Transcript Variant
SAMD4B transcript variant X2XM_017026918.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.183A=0.817
1000GenomesAmericanSub694G=0.870A=0.130
1000GenomesEast AsianSub1008G=0.915A=0.085
1000GenomesEuropeSub1006G=0.878A=0.122
1000GenomesGlobalStudy-wide5008G=0.704A=0.296
1000GenomesSouth AsianSub978G=0.900A=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.894A=0.106
The Genome Aggregation DatabaseAfricanSub8704G=0.280A=0.720
The Genome Aggregation DatabaseAmericanSub834G=0.870A=0.130
The Genome Aggregation DatabaseEast AsianSub1618G=0.918A=0.082
The Genome Aggregation DatabaseEuropeSub18454G=0.894A=0.105
The Genome Aggregation DatabaseGlobalStudy-wide29912G=0.715A=0.284
The Genome Aggregation DatabaseOtherSub302G=0.770A=0.230
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.610A=0.389
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.902A=0.098
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs304547.1E-05alcoholism (heaviness of drinking)21529783

eQTL of rs30454 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 rs30454 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 )
chr193980937339809469E067-34707
chr193980961939809784E067-34392
chr193981206639812206E067-31970
chr193983465039834698E067-9478
chr193983475239835190E067-8986
chr193983534039835408E067-8768
chr193983562439835685E067-8491
chr193983570639835773E067-8403
chr193983593339835986E067-8190
chr193983599939836053E067-8123
chr193983611439836210E067-7966
chr193983626039836312E067-7864
chr193983632239836467E067-7709
chr193983654039836698E067-7478
chr193983670239836855E067-7321
chr193983693239836996E067-7180
chr193983704439837091E067-7085
chr193983718939837265E067-6911
chr193983745539837515E067-6661
chr193983807639838305E067-5871
chr193983857839838726E067-5450
chr193983931839839411E067-4765
chr193983971639839756E067-4420
chr193983983739839887E067-4289
chr193984023739840320E067-3856
chr193984038039840420E067-3756
chr193984195339842033E067-2143
chr193984205239842669E067-1507
chr193984269739842962E067-1214
chr193984357839843871E067-305
chr193984597439846052E0671798
chr193984614839846205E0671972
chr193984629339846343E0672117
chr193984646039846563E0672284
chr193984683839847071E0672662
chr193984713639847180E0672960
chr193984732139847433E0673145
chr193984751139847565E0673335
chr193984774439847816E0673568
chr193984787939847933E0673703
chr193984806139848111E0673885
chr193984817239848298E0673996
chr193984856139848611E0674385
chr193984942939849479E0675253
chr193984986039849921E0675684
chr193985125639851328E0677080
chr193985137439851497E0677198
chr193985156839851772E0677392
chr193985260839852672E0678432
chr193985270139852785E0678525
chr193985287439852937E0678698
chr193985299939855151E0678823
chr193985524039855365E06711064
chr193985636239856457E06712186
chr193985786839857982E06713692
chr193985917139859254E06714995
chr193985929439859385E06715118
chr193986023739860344E06716061
chr193986042939860479E06716253
chr193986073139860857E06716555
chr193986278339862900E06718607
chr193986290139863628E06718725
chr193986368339863882E06719507
chr193986411139864249E06719935
chr193987941639879845E06735240
chr193987984639879917E06735670
chr193988419439884381E06740018
chr193988439139884529E06740215
chr193988771439889847E06743538
chr193981206639812206E068-31970
chr193983465039834698E068-9478
chr193983475239835190E068-8986
chr193983534039835408E068-8768
chr193983562439835685E068-8491
chr193983570639835773E068-8403
chr193983593339835986E068-8190
chr193983599939836053E068-8123
chr193983611439836210E068-7966
chr193983626039836312E068-7864
chr193983632239836467E068-7709
chr193983654039836698E068-7478
chr193983670239836855E068-7321
chr193983693239836996E068-7180
chr193983931839839411E068-4765
chr193983971639839756E068-4420
chr193984195339842033E068-2143
chr193984205239842669E068-1507
chr193984269739842962E068-1214
chr193984323039843426E068-750
chr193984357839843871E068-305
chr193984597439846052E0681798
chr193984614839846205E0681972
chr193984629339846343E0682117
chr193984646039846563E0682284
chr193984942939849479E0685253
chr193984986039849921E0685684
chr193985260839852672E0688432
chr193985270139852785E0688525
chr193985287439852937E0688698
chr193985299939855151E0688823
chr193985524039855365E06811064
chr193985636239856457E06812186
chr193985651239856577E06812336
chr193985659739856676E06812421
chr193986278339862900E06818607
chr193986290139863628E06818725
chr193986368339863882E06819507
chr193988333939883528E06839163
chr193988407539884174E06839899
chr193988419439884381E06840018
chr193988439139884529E06840215
chr193983465039834698E069-9478
chr193983475239835190E069-8986
chr193983534039835408E069-8768
chr193983562439835685E069-8491
chr193983570639835773E069-8403
chr193983593339835986E069-8190
chr193983599939836053E069-8123
chr193983611439836210E069-7966
chr193983626039836312E069-7864
chr193983632239836467E069-7709
chr193983654039836698E069-7478
chr193983670239836855E069-7321
chr193983693239836996E069-7180
chr193983704439837091E069-7085
chr193983718939837265E069-6911
chr193983745539837515E069-6661
chr193983807639838305E069-5871
chr193983857839838726E069-5450
chr193983881339838889E069-5287
chr193983912139839197E069-4979
chr193983931839839411E069-4765
chr193983971639839756E069-4420
chr193983983739839887E069-4289
chr193984023739840320E069-3856
chr193984038039840420E069-3756
chr193984083439840886E069-3290
chr193984094239841074E069-3102
chr193984146739841530E069-2646
chr193984195339842033E069-2143
chr193984205239842669E069-1507
chr193984269739842962E069-1214
chr193984323039843426E069-750
chr193984357839843871E069-305
chr193984597439846052E0691798
chr193984614839846205E0691972
chr193984629339846343E0692117
chr193984646039846563E0692284
chr193984683839847071E0692662
chr193984713639847180E0692960
chr193984732139847433E0693145
chr193984751139847565E0693335
chr193984774439847816E0693568
chr193984787939847933E0693703
chr193984806139848111E0693885
chr193984817239848298E0693996
chr193984856139848611E0694385
chr193984942939849479E0695253
chr193984986039849921E0695684
chr193985023439850294E0696058
chr193985031839850368E0696142
chr193985039339850450E0696217
chr193985260839852672E0698432
chr193985270139852785E0698525
chr193985287439852937E0698698
chr193985299939855151E0698823
chr193985524039855365E06911064
chr193985636239856457E06912186
chr193985651239856577E06912336
chr193985659739856676E06912421
chr193985699539857052E06912819
chr193985710339857223E06912927
chr193985730839857444E06913132
chr193985752739857631E06913351
chr193985770239857755E06913526
chr193985775639857838E06913580
chr193985786839857982E06913692
chr193985798639858100E06913810
chr193985917139859254E06914995
chr193985929439859385E06915118
chr193986189839862019E06917722
chr193986235639862427E06918180
chr193986278339862900E06918607
chr193986290139863628E06918725
chr193986368339863882E06919507
chr193986411139864249E06919935
chr193987057239870983E06926396
chr193980994439810002E070-34174
chr193981001639810070E070-34106
chr193983132439831371E070-12805
chr193983465039834698E070-9478
chr193983475239835190E070-8986
chr193983534039835408E070-8768
chr193983562439835685E070-8491
chr193983570639835773E070-8403
chr193983593339835986E070-8190
chr193983599939836053E070-8123
chr193983611439836210E070-7966
chr193983626039836312E070-7864
chr193983632239836467E070-7709
chr193983654039836698E070-7478
chr193983670239836855E070-7321
chr193983693239836996E070-7180
chr193988333939883528E07039163
chr193988359239883683E07039416
chr193980994439810002E071-34174
chr193981001639810070E071-34106
chr193983475239835190E071-8986
chr193983534039835408E071-8768
chr193983562439835685E071-8491
chr193983570639835773E071-8403
chr193983593339835986E071-8190
chr193983599939836053E071-8123
chr193983611439836210E071-7966
chr193983626039836312E071-7864
chr193983632239836467E071-7709
chr193983654039836698E071-7478
chr193983670239836855E071-7321
chr193983693239836996E071-7180
chr193983704439837091E071-7085
chr193983718939837265E071-6911
chr193983745539837515E071-6661
chr193983807639838305E071-5871
chr193983857839838726E071-5450
chr193983881339838889E071-5287
chr193983912139839197E071-4979
chr193983931839839411E071-4765
chr193983971639839756E071-4420
chr193983983739839887E071-4289
chr193984023739840320E071-3856
chr193984038039840420E071-3756
chr193984083439840886E071-3290
chr193984094239841074E071-3102
chr193984146739841530E071-2646
chr193984195339842033E071-2143
chr193984205239842669E071-1507
chr193984323039843426E071-750
chr193984357839843871E071-305
chr193984597439846052E0711798
chr193984614839846205E0711972
chr193984629339846343E0712117
chr193984646039846563E0712284
chr193984683839847071E0712662
chr193984713639847180E0712960
chr193984732139847433E0713145
chr193984751139847565E0713335
chr193984774439847816E0713568
chr193984787939847933E0713703
chr193984806139848111E0713885
chr193984817239848298E0713996
chr193984856139848611E0714385
chr193984942939849479E0715253
chr193984986039849921E0715684
chr193985023439850294E0716058
chr193985031839850368E0716142
chr193985039339850450E0716217
chr193985090339851027E0716727
chr193985108439851176E0716908
chr193985125639851328E0717080
chr193985137439851497E0717198
chr193985156839851772E0717392
chr193985260839852672E0718432
chr193985270139852785E0718525
chr193985287439852937E0718698
chr193985299939855151E0718823
chr193985636239856457E07112186
chr193985651239856577E07112336
chr193985659739856676E07112421
chr193985699539857052E07112819
chr193985710339857223E07112927
chr193985730839857444E07113132
chr193985752739857631E07113351
chr193985770239857755E07113526
chr193985775639857838E07113580
chr193985786839857982E07113692
chr193985798639858100E07113810
chr193985917139859254E07114995
chr193985929439859385E07115118
chr193986235639862427E07118180
chr193986278339862900E07118607
chr193986290139863628E07118725
chr193986368339863882E07119507
chr193986411139864249E07119935
chr193986429239864349E07120116
chr193987014339870193E07125967
chr193987057239870983E07126396
chr193987104039871154E07126864
chr193988333939883528E07139163
chr193988359239883683E07139416
chr193988439139884529E07140215
chr193988473339884846E07140557
chr193988771439889847E07143538
chr193980937339809469E072-34707
chr193980961939809784E072-34392
chr193983465039834698E072-9478
chr193983475239835190E072-8986
chr193983534039835408E072-8768
chr193983562439835685E072-8491
chr193983570639835773E072-8403
chr193983593339835986E072-8190
chr193983599939836053E072-8123
chr193983611439836210E072-7966
chr193983626039836312E072-7864
chr193983632239836467E072-7709
chr193983654039836698E072-7478
chr193983670239836855E072-7321
chr193983693239836996E072-7180
chr193983704439837091E072-7085
chr193983718939837265E072-6911
chr193983745539837515E072-6661
chr193983807639838305E072-5871
chr193983857839838726E072-5450
chr193983881339838889E072-5287
chr193983912139839197E072-4979
chr193983931839839411E072-4765
chr193983971639839756E072-4420
chr193983983739839887E072-4289
chr193984023739840320E072-3856
chr193984038039840420E072-3756
chr193984083439840886E072-3290
chr193984094239841074E072-3102
chr193984146739841530E072-2646
chr193984195339842033E072-2143
chr193984205239842669E072-1507
chr193984269739842962E072-1214
chr193984323039843426E072-750
chr193984357839843871E072-305
chr193984532639845397E0721150
chr193984597439846052E0721798
chr193984614839846205E0721972
chr193984629339846343E0722117
chr193984646039846563E0722284
chr193984942939849479E0725253
chr193984986039849921E0725684
chr193985137439851497E0727198
chr193985156839851772E0727392
chr193985193839851991E0727762
chr193985260839852672E0728432
chr193985270139852785E0728525
chr193985287439852937E0728698
chr193985299939855151E0728823
chr193985524039855365E07211064
chr193985636239856457E07212186
chr193985651239856577E07212336
chr193985659739856676E07212421
chr193985699539857052E07212819
chr193985710339857223E07212927
chr193985730839857444E07213132
chr193985917139859254E07214995
chr193985929439859385E07215118
chr193986278339862900E07218607
chr193986290139863628E07218725
chr193986368339863882E07219507
chr193986411139864249E07219935
chr193980043539800516E073-43660
chr193981206639812206E073-31970
chr193983465039834698E073-9478
chr193983475239835190E073-8986
chr193983534039835408E073-8768
chr193983562439835685E073-8491
chr193983570639835773E073-8403
chr193983593339835986E073-8190
chr193983599939836053E073-8123
chr193983611439836210E073-7966
chr193983626039836312E073-7864
chr193983632239836467E073-7709
chr193983654039836698E073-7478
chr193983670239836855E073-7321
chr193983693239836996E073-7180
chr193983704439837091E073-7085
chr193983718939837265E073-6911
chr193983745539837515E073-6661
chr193983807639838305E073-5871
chr193983857839838726E073-5450
chr193983881339838889E073-5287
chr193983912139839197E073-4979
chr193983931839839411E073-4765
chr193983971639839756E073-4420
chr193983983739839887E073-4289
chr193984023739840320E073-3856
chr193984038039840420E073-3756
chr193984195339842033E073-2143
chr193984205239842669E073-1507
chr193984269739842962E073-1214
chr193984323039843426E073-750
chr193984646039846563E0732284
chr193984683839847071E0732662
chr193984713639847180E0732960
chr193984732139847433E0733145
chr193984751139847565E0733335
chr193984942939849479E0735253
chr193985125639851328E0737080
chr193985137439851497E0737198
chr193985156839851772E0737392
chr193985260839852672E0738432
chr193985270139852785E0738525
chr193985287439852937E0738698
chr193985299939855151E0738823
chr193985524039855365E07311064
chr193986278339862900E07318607
chr193986290139863628E07318725
chr193986368339863882E07319507
chr193986411139864249E07319935
chr193987057239870983E07326396
chr193988333939883528E07339163
chr193988359239883683E07339416
chr193988771439889847E07343538
chr193981845539819269E074-24907
chr193983465039834698E074-9478
chr193983475239835190E074-8986
chr193983534039835408E074-8768
chr193983562439835685E074-8491
chr193983570639835773E074-8403
chr193983593339835986E074-8190
chr193983599939836053E074-8123
chr193983611439836210E074-7966
chr193983626039836312E074-7864
chr193983632239836467E074-7709
chr193983654039836698E074-7478
chr193983670239836855E074-7321
chr193983693239836996E074-7180
chr193983704439837091E074-7085
chr193983718939837265E074-6911
chr193983745539837515E074-6661
chr193983807639838305E074-5871
chr193983912139839197E074-4979
chr193983931839839411E074-4765
chr193983971639839756E074-4420
chr193983983739839887E074-4289
chr193984023739840320E074-3856
chr193984038039840420E074-3756
chr193984083439840886E074-3290
chr193984094239841074E074-3102
chr193984195339842033E074-2143
chr193984205239842669E074-1507
chr193984269739842962E074-1214
chr193984323039843426E074-750
chr193984357839843871E074-305
chr193984532639845397E0741150
chr193984597439846052E0741798
chr193984614839846205E0741972
chr193984629339846343E0742117
chr193984646039846563E0742284
chr193984683839847071E0742662
chr193984942939849479E0745253
chr193984986039849921E0745684
chr193985023439850294E0746058
chr193985031839850368E0746142
chr193985039339850450E0746217
chr193985137439851497E0747198
chr193985156839851772E0747392
chr193985193839851991E0747762
chr193985260839852672E0748432
chr193985270139852785E0748525
chr193985287439852937E0748698
chr193985299939855151E0748823
chr193985524039855365E07411064
chr193985636239856457E07412186
chr193985651239856577E07412336
chr193985659739856676E07412421
chr193985710339857223E07412927
chr193985730839857444E07413132
chr193985752739857631E07413351
chr193985770239857755E07413526
chr193985775639857838E07413580
chr193985786839857982E07413692
chr193985798639858100E07413810
chr193985917139859254E07414995
chr193985929439859385E07415118
chr193986278339862900E07418607
chr193986290139863628E07418725
chr193986368339863882E07419507
chr193986411139864249E07419935
chr193986429239864349E07420116
chr193980878739808842E081-35334
chr193980919539809235E081-34941
chr193980937339809469E081-34707
chr193980988839809940E081-34236
chr193981014439810234E081-33942
chr193981812739818388E081-25788
chr193983465039834698E081-9478
chr193983611439836210E081-7966
chr193983626039836312E081-7864
chr193983632239836467E081-7709
chr193983654039836698E081-7478
chr193983670239836855E081-7321
chr193983693239836996E081-7180
chr193983704439837091E081-7085
chr193983718939837265E081-6911
chr193979970539799784E082-44392
chr193980919539809235E082-34941
chr193980937339809469E082-34707
chr193980961939809784E082-34392
chr193981223939812468E082-31708
chr193983132439831371E082-12805
chr193983465039834698E082-9478
chr193983611439836210E082-7966
chr193983626039836312E082-7864
chr193983632239836467E082-7709
chr193988333939883528E08239163
chr193988359239883683E08239416










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr193980115339801618E067-42558
chr193980165339801947E067-42229
chr193981063039811745E067-32431
chr193981178739811993E067-32183
chr193982582539826558E067-17618
chr193983149339834574E067-9602
chr193987992739882444E06735751
chr193988251839882575E06738342
chr193980115339801618E068-42558
chr193980165339801947E068-42229
chr193981063039811745E068-32431
chr193981178739811993E068-32183
chr193982582539826558E068-17618
chr193983149339834574E068-9602
chr193987992739882444E06835751
chr193988251839882575E06838342
chr193980115339801618E069-42558
chr193980165339801947E069-42229
chr193981063039811745E069-32431
chr193981178739811993E069-32183
chr193982582539826558E069-17618
chr193983149339834574E069-9602
chr193987992739882444E06935751
chr193988251839882575E06938342
chr193981063039811745E070-32431
chr193981178739811993E070-32183
chr193983149339834574E070-9602
chr193987992739882444E07035751
chr193988251839882575E07038342
chr193980115339801618E071-42558
chr193980165339801947E071-42229
chr193981063039811745E071-32431
chr193981178739811993E071-32183
chr193982582539826558E071-17618
chr193982656339826935E071-17241
chr193983149339834574E071-9602
chr193987992739882444E07135751
chr193988251839882575E07138342
chr193980115339801618E072-42558
chr193980165339801947E072-42229
chr193981063039811745E072-32431
chr193981178739811993E072-32183
chr193983149339834574E072-9602
chr193987992739882444E07235751
chr193988251839882575E07238342
chr193980026339800313E073-43863
chr193980115339801618E073-42558
chr193980165339801947E073-42229
chr193981063039811745E073-32431
chr193981178739811993E073-32183
chr193982582539826558E073-17618
chr193983149339834574E073-9602
chr193987992739882444E07335751
chr193988251839882575E07338342
chr193981063039811745E074-32431
chr193981178739811993E074-32183
chr193982582539826558E074-17618
chr193983149339834574E074-9602
chr193987992739882444E07435751
chr193988251839882575E07438342
chr193987992739882444E08135751
chr193988251839882575E08138342
chr193979742039798518E082-45658
chr193980165339801947E082-42229
chr193981063039811745E082-32431
chr193981178739811993E082-32183
chr193983149339834574E082-9602
chr193987992739882444E08235751
chr193988251839882575E08238342