rs6753019

Homo sapiens
G>A
PSD4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0241 (7228/29910,GnomAD)
G==0267 (7775/29116,TOPMED)
G==0258 (1291/5008,1000G)
G==0146 (563/3854,ALSPAC)
G==0163 (606/3708,TWINSUK)
chr2:113190582 (GRCh38.p7) (2q14.1)
AD
GWASdb2
1   publication(s)
See rs on genome
156 Enhancers around
49 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.113190582G>A
GRCh37.p13 chr 2NC_000002.11:g.113948159G>A

Gene: PSD4, pleckstrin and Sec7 domain containing 4(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PSD4 transcriptNM_012455.2:c.N/AIntron Variant
PSD4 transcript variant X1XM_005263634.2:c.N/AIntron Variant
PSD4 transcript variant X2XM_006712392.2:c.N/AIntron Variant
PSD4 transcript variant X3XM_006712393.2:c.N/AIntron Variant
PSD4 transcript variant X4XM_006712394.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.436A=0.564
1000GenomesAmericanSub694G=0.130A=0.870
1000GenomesEast AsianSub1008G=0.247A=0.753
1000GenomesEuropeSub1006G=0.179A=0.821
1000GenomesGlobalStudy-wide5008G=0.258A=0.742
1000GenomesSouth AsianSub978G=0.200A=0.800
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.146A=0.854
The Genome Aggregation DatabaseAfricanSub8694G=0.381A=0.619
The Genome Aggregation DatabaseAmericanSub836G=0.140A=0.860
The Genome Aggregation DatabaseEast AsianSub1608G=0.269A=0.731
The Genome Aggregation DatabaseEuropeSub18470G=0.180A=0.819
The Genome Aggregation DatabaseGlobalStudy-wide29910G=0.241A=0.758
The Genome Aggregation DatabaseOtherSub302G=0.110A=0.890
Trans-Omics for Precision MedicineGlobalStudy-wide29116G=0.267A=0.733
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.163A=0.837
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs67530190.000589alcohol dependence24277619

eQTL of rs6753019 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 rs6753019 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 )
chr2113939112113939601E067-8558
chr2113961438113962249E06713279
chr2113974586113974670E06726427
chr2113974684113974858E06726525
chr2113974873113974925E06726714
chr2113975024113975086E06726865
chr2113975213113975521E06727054
chr2113975549113975717E06727390
chr2113975797113975847E06727638
chr2113975873113976533E06727714
chr2113997366113997606E06749207
chr2113938024113938321E068-9838
chr2113938844113938947E068-9212
chr2113938979113939033E068-9126
chr2113939112113939601E068-8558
chr2113959721113959771E06811562
chr2113960085113960329E06811926
chr2113969394113969615E06821235
chr2113969616113969886E06821457
chr2113969951113970458E06821792
chr2113970543113970636E06822384
chr2113974684113974858E06826525
chr2113974873113974925E06826714
chr2113975024113975086E06826865
chr2113975213113975521E06827054
chr2113975549113975717E06827390
chr2113975797113975847E06827638
chr2113975873113976533E06827714
chr2113976609113976779E06828450
chr2113976906113976956E06828747
chr2113977081113977257E06828922
chr2113977293113977430E06829134
chr2113977549113977600E06829390
chr2113977612113977832E06829453
chr2113983249113983801E06835090
chr2113983842113983915E06835683
chr2113997109113997185E06848950
chr2113997366113997606E06849207
chr2113938979113939033E069-9126
chr2113939112113939601E069-8558
chr2113960085113960329E06911926
chr2113968853113969184E06920694
chr2113975024113975086E06926865
chr2113975213113975521E06927054
chr2113975549113975717E06927390
chr2113975797113975847E06927638
chr2113975873113976533E06927714
chr2113976609113976779E06928450
chr2113976906113976956E06928747
chr2113977081113977257E06928922
chr2113977293113977430E06929134
chr2113977549113977600E06929390
chr2113977612113977832E06929453
chr2113997109113997185E06948950
chr2113997366113997606E06949207
chr2113938979113939033E070-9126
chr2113939112113939601E070-8558
chr2113959721113959771E07011562
chr2113960085113960329E07011926
chr2113960619113960709E07012460
chr2113960821113961084E07012662
chr2113968392113968464E07020233
chr2113968853113969184E07020694
chr2113969394113969615E07021235
chr2113969616113969886E07021457
chr2113969951113970458E07021792
chr2113970543113970636E07022384
chr2113970897113970990E07022738
chr2113971234113971288E07023075
chr2113971718113971781E07023559
chr2113997366113997606E07049207
chr2113938979113939033E071-9126
chr2113939112113939601E071-8558
chr2113944477113944549E071-3610
chr2113959486113959536E07111327
chr2113959721113959771E07111562
chr2113960085113960329E07111926
chr2113969616113969886E07121457
chr2113969951113970458E07121792
chr2113970543113970636E07122384
chr2113974586113974670E07126427
chr2113974684113974858E07126525
chr2113974873113974925E07126714
chr2113975024113975086E07126865
chr2113975213113975521E07127054
chr2113975549113975717E07127390
chr2113975797113975847E07127638
chr2113975873113976533E07127714
chr2113976609113976779E07128450
chr2113976906113976956E07128747
chr2113977081113977257E07128922
chr2113977293113977430E07129134
chr2113977549113977600E07129390
chr2113977612113977832E07129453
chr2113997109113997185E07148950
chr2113997366113997606E07149207
chr2113938979113939033E072-9126
chr2113939112113939601E072-8558
chr2113959721113959771E07211562
chr2113960085113960329E07211926
chr2113975213113975521E07227054
chr2113975549113975717E07227390
chr2113975797113975847E07227638
chr2113975873113976533E07227714
chr2113976609113976779E07228450
chr2113983249113983801E07235090
chr2113983842113983915E07235683
chr2113997366113997606E07249207
chr2113960619113960709E07312460
chr2113974586113974670E07326427
chr2113974684113974858E07326525
chr2113974873113974925E07326714
chr2113975024113975086E07326865
chr2113975213113975521E07327054
chr2113975549113975717E07327390
chr2113975797113975847E07327638
chr2113975873113976533E07327714
chr2113997109113997185E07348950
chr2113997366113997606E07349207
chr2113938979113939033E074-9126
chr2113939112113939601E074-8558
chr2113942454113942504E074-5655
chr2113942593113942724E074-5435
chr2113959721113959771E07411562
chr2113960085113960329E07411926
chr2113969394113969615E07421235
chr2113969616113969886E07421457
chr2113974586113974670E07426427
chr2113974684113974858E07426525
chr2113974873113974925E07426714
chr2113975024113975086E07426865
chr2113975213113975521E07427054
chr2113975549113975717E07427390
chr2113975797113975847E07427638
chr2113975873113976533E07427714
chr2113976609113976779E07428450
chr2113976906113976956E07428747
chr2113977081113977257E07428922
chr2113977293113977430E07429134
chr2113977549113977600E07429390
chr2113977612113977832E07429453
chr2113997109113997185E07448950
chr2113997366113997606E07449207
chr2113969394113969615E08121235
chr2113969616113969886E08121457
chr2113969951113970458E08121792
chr2113970543113970636E08122384
chr2113997366113997606E08149207
chr2113960085113960329E08211926
chr2113969394113969615E08221235
chr2113969616113969886E08221457
chr2113969951113970458E08221792
chr2113970543113970636E08222384
chr2113983842113983915E08235683
chr2113986045113986212E08237886
chr2113986277113986373E08238118










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2113955958113956009E0677799
chr2113956122113957173E0677963
chr2113992684113992801E06744525
chr2113992819113992877E06744660
chr2113992958113993423E06744799
chr2113913986113916254E068-31905
chr2113931948113932061E068-16098
chr2113955958113956009E0687799
chr2113956122113957173E0687963
chr2113992684113992801E06844525
chr2113992819113992877E06844660
chr2113992958113993423E06844799
chr2113956122113957173E0697963
chr2113992684113992801E06944525
chr2113992819113992877E06944660
chr2113992958113993423E06944799
chr2113913986113916254E070-31905
chr2113956122113957173E0707963
chr2113913986113916254E071-31905
chr2113931948113932061E071-16098
chr2113932100113932217E071-15942
chr2113932253113932481E071-15678
chr2113932569113933339E071-14820
chr2113956122113957173E0717963
chr2113992684113992801E07144525
chr2113992819113992877E07144660
chr2113992958113993423E07144799
chr2113994221113994606E07146062
chr2113913986113916254E072-31905
chr2113956122113957173E0727963
chr2113992684113992801E07244525
chr2113992819113992877E07244660
chr2113992958113993423E07244799
chr2113994221113994606E07246062
chr2113913986113916254E073-31905
chr2113956122113957173E0737963
chr2113992684113992801E07344525
chr2113992819113992877E07344660
chr2113992958113993423E07344799
chr2113913986113916254E074-31905
chr2113956122113957173E0747963
chr2113992684113992801E07444525
chr2113992819113992877E07444660
chr2113992958113993423E07444799
chr2113913986113916254E082-31905
chr2113956122113957173E0827963
chr2113992684113992801E08244525
chr2113992819113992877E08244660
chr2113992958113993423E08244799