rs12608819

Homo sapiens
C>T
DACT3-AS1 : Intron Variant
DACT3 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0105 (3170/29974,GnomAD)
T=0109 (3183/29118,TOPMED)
T=0137 (686/5008,1000G)
T=0111 (428/3854,ALSPAC)
T=0102 (378/3708,TWINSUK)
chr19:46662617 (GRCh38.p7) (19q13.32)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.46662617C>T
GRCh37.p13 chr 19NC_000019.9:g.47165874C>T

Gene: DACT3, dishevelled binding antagonist of beta catenin 3(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
DACT3 transcript variant 1NM_145056.2:c.N/AUpstream Transcript Variant
DACT3 transcript variant 2NM_001301046.1:c.N/AN/A
DACT3 transcript variant X2XM_011526499.2:c.N/AN/A
DACT3 transcript variant X3XM_011526500.2:c.N/AN/A
DACT3 transcript variant X1XM_017026334.1:c.N/AN/A

Gene: DACT3-AS1, DACT3 antisense RNA 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
DACT3-AS1 transcript variant 1NR_040041.1:n.N/AIntron Variant
DACT3-AS1 transcript variant 2NR_040042.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.923T=0.077
1000GenomesAmericanSub694C=0.820T=0.180
1000GenomesEast AsianSub1008C=0.718T=0.282
1000GenomesEuropeSub1006C=0.885T=0.115
1000GenomesGlobalStudy-wide5008C=0.863T=0.137
1000GenomesSouth AsianSub978C=0.940T=0.060
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.889T=0.111
The Genome Aggregation DatabaseAfricanSub8724C=0.926T=0.074
The Genome Aggregation DatabaseAmericanSub838C=0.800T=0.200
The Genome Aggregation DatabaseEast AsianSub1614C=0.700T=0.300
The Genome Aggregation DatabaseEuropeSub18496C=0.900T=0.099
The Genome Aggregation DatabaseGlobalStudy-wide29974C=0.894T=0.105
The Genome Aggregation DatabaseOtherSub302C=0.890T=0.110
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.890T=0.109
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.898T=0.102
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
rs126088190.00098alcohol dependence20201924

eQTL of rs12608819 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 rs12608819 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 )
chr194711721947117874E067-48000
chr194715716747157437E067-8437
chr194715754247157614E067-8260
chr194715777747158489E067-7385
chr194715850647158550E067-7324
chr194716178947161843E067-4031
chr194720009547200214E06734221
chr194711721947117874E068-48000
chr194711799347118050E068-47824
chr194711991647120738E068-45136
chr194712078847121184E068-44690
chr194714018847140251E068-25623
chr194714036247140489E068-25385
chr194714049047140849E068-25025
chr194714090547140978E068-24896
chr194714106947141157E068-24717
chr194715644047156559E068-9315
chr194715716747157437E068-8437
chr194715754247157614E068-8260
chr194715777747158489E068-7385
chr194715850647158550E068-7324
chr194715860747158657E068-7217
chr194715897347159013E068-6861
chr194716178947161843E068-4031
chr194711721947117874E069-48000
chr194711991647120738E069-45136
chr194713641647136488E069-29386
chr194713650047136546E069-29328
chr194714018847140251E069-25623
chr194714036247140489E069-25385
chr194714049047140849E069-25025
chr194714090547140978E069-24896
chr194714106947141157E069-24717
chr194715716747157437E069-8437
chr194715754247157614E069-8260
chr194715860747158657E069-7217
chr194715897347159013E069-6861
chr194715908547159149E069-6725
chr194716005547160260E069-5614
chr194716032047160385E069-5489
chr194712387947124936E070-40938
chr194712494647125073E070-40801
chr194712513647125210E070-40664
chr194712521447125321E070-40553
chr194712543347125554E070-40320
chr194712562447125704E070-40170
chr194712582647125876E070-39998
chr194712591247125981E070-39893
chr194712598447126097E070-39777
chr194714518247145241E070-20633
chr194711721947117874E071-48000
chr194711991647120738E071-45136
chr194712179647122499E071-43375
chr194712785147127891E071-37983
chr194713390847135135E071-30739
chr194713641647136488E071-29386
chr194713650047136546E071-29328
chr194714106947141157E071-24717
chr194715644047156559E071-9315
chr194715716747157437E071-8437
chr194715850647158550E071-7324
chr194715860747158657E071-7217
chr194715897347159013E071-6861
chr194715908547159149E071-6725
chr194715978747159827E071-6047
chr194716005547160260E071-5614
chr194716032047160385E071-5489
chr194716178947161843E071-4031
chr194716200547162078E071-3796
chr194716213247162279E071-3595
chr194711721947117874E072-48000
chr194711799347118050E072-47824
chr194711991647120738E072-45136
chr194713641647136488E072-29386
chr194713650047136546E072-29328
chr194714036247140489E072-25385
chr194714049047140849E072-25025
chr194714090547140978E072-24896
chr194714106947141157E072-24717
chr194715716747157437E072-8437
chr194715754247157614E072-8260
chr194715777747158489E072-7385
chr194715850647158550E072-7324
chr194715860747158657E072-7217
chr194716178947161843E072-4031
chr194717980147179852E07213927
chr194717992247179962E07214048
chr194711991647120738E073-45136
chr194712179647122499E073-43375
chr194712293747123471E073-42403
chr194712354747123786E073-42088
chr194715644047156559E073-9315
chr194715716747157437E073-8437
chr194715754247157614E073-8260
chr194715777747158489E073-7385
chr194715850647158550E073-7324
chr194715860747158657E073-7217
chr194715897347159013E073-6861
chr194716178947161843E073-4031
chr194716200547162078E073-3796
chr194716213247162279E073-3595
chr194711721947117874E074-48000
chr194711799347118050E074-47824
chr194711991647120738E074-45136
chr194712078847121184E074-44690
chr194714090547140978E074-24896
chr194714106947141157E074-24717
chr194715578847155838E074-10036
chr194715644047156559E074-9315
chr194715716747157437E074-8437
chr194715754247157614E074-8260
chr194715777747158489E074-7385
chr194715860747158657E074-7217
chr194715897347159013E074-6861
chr194715908547159149E074-6725
chr194715935647159406E074-6468
chr194715951547159576E074-6298
chr194715960747159675E074-6199
chr194715978747159827E074-6047
chr194716005547160260E074-5614
chr194716032047160385E074-5489
chr194716178947161843E074-4031
chr194716200547162078E074-3796
chr194716213247162279E074-3595
chr194713641647136488E081-29386
chr194713650047136546E081-29328
chr194716200547162078E081-3796
chr194716213247162279E081-3595
chr194716695747167015E0811083
chr194716757447167846E0811700
chr194716798147168031E0812107
chr194720009547200214E08134221









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194713682947138729E067-27145
chr194714116347143507E067-22367
chr194716229347165885E0670
chr194720027747201280E06734403
chr194714116347143507E068-22367
chr194716229347165885E0680
chr194713682947138729E069-27145
chr194714116347143507E069-22367
chr194716229347165885E0690
chr194720027747201280E06934403
chr194713682947138729E070-27145
chr194713682947138729E071-27145
chr194714116347143507E071-22367
chr194716229347165885E0710
chr194720027747201280E07134403
chr194713682947138729E072-27145
chr194714116347143507E072-22367
chr194716229347165885E0720
chr194713682947138729E073-27145
chr194714116347143507E073-22367
chr194716229347165885E0730
chr194720027747201280E07334403
chr194713682947138729E074-27145
chr194714116347143507E074-22367
chr194716229347165885E0740
chr194720027747201280E07434403
chr194716229347165885E0810
chr194714116347143507E082-22367
chr194716229347165885E0820
chr194720027747201280E08234403