rs6493511

Homo sapiens
A>G
DMXL2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0172 (5161/29958,GnomAD)
A==0179 (5238/29118,TOPMED)
A==0130 (649/5008,1000G)
A==0230 (886/3854,ALSPAC)
A==0244 (906/3708,TWINSUK)
chr15:51609408 (GRCh38.p7) (15q21.2)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.51609408A>G
GRCh37.p13 chr 15NC_000015.9:g.51901605A>G
DMXL2 RefSeqGeneNG_017155.1:g.18363T>C

Gene: DMXL2, Dmx like 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
DMXL2 transcript variant 1NM_001174116.1:c.N/AIntron Variant
DMXL2 transcript variant 3NM_001174117.1:c.N/AIntron Variant
DMXL2 transcript variant 2NM_015263.3:c.N/AIntron Variant
DMXL2 transcript variant X1XM_005254255.1:c.N/AIntron Variant
DMXL2 transcript variant X2XM_005254256.1:c.N/AIntron Variant
DMXL2 transcript variant X12XM_011521402.2:c.N/AIntron Variant
DMXL2 transcript variant X3XM_017022034.1:c.N/AGenic Upstream Transcript Variant
DMXL2 transcript variant X6XR_001751173.1:n.N/AIntron Variant
DMXL2 transcript variant X8XR_001751174.1:n.N/AIntron Variant
DMXL2 transcript variant X9XR_001751175.1:n.N/AIntron Variant
DMXL2 transcript variant X10XR_001751176.1:n.N/AIntron Variant
DMXL2 transcript variant X11XR_001751177.1:n.N/AIntron Variant
DMXL2 transcript variant X4XR_931779.2:n.N/AIntron Variant
DMXL2 transcript variant X5XR_931780.2:n.N/AIntron Variant
DMXL2 transcript variant X7XR_931781.2:n.N/AIntron Variant
DMXL2 transcript variant X13XR_931782.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.125G=0.875
1000GenomesAmericanSub694A=0.180G=0.820
1000GenomesEast AsianSub1008A=0.011G=0.989
1000GenomesEuropeSub1006A=0.219G=0.781
1000GenomesGlobalStudy-wide5008A=0.130G=0.870
1000GenomesSouth AsianSub978A=0.130G=0.870
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.230G=0.770
The Genome Aggregation DatabaseAfricanSub8722A=0.129G=0.871
The Genome Aggregation DatabaseAmericanSub836A=0.130G=0.870
The Genome Aggregation DatabaseEast AsianSub1622A=0.010G=0.990
The Genome Aggregation DatabaseEuropeSub18476A=0.207G=0.792
The Genome Aggregation DatabaseGlobalStudy-wide29958A=0.172G=0.827
The Genome Aggregation DatabaseOtherSub302A=0.280G=0.720
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.179G=0.820
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.244G=0.756
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
rs64935110.000986alcohol dependence21314694

eQTL of rs6493511 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr15:51901605SCG3ENSG00000104112.4A>G1.7429e-13-71945Cerebellum
Chr15:51901605SCG3ENSG00000104112.4A>G9.0703e-3-71945Cortex
Chr15:51901605SCG3ENSG00000104112.4A>G3.9969e-16-71945Cerebellar_Hemisphere
Chr15:51901605SCG3ENSG00000104112.4A>G5.7051e-6-71945Caudate_basal_ganglia
Chr15:51901605SCG3ENSG00000104112.4A>G3.4280e-4-71945Brain_Spinal_cord_cervical
Chr15:51901605SCG3ENSG00000104112.4A>G4.9093e-4-71945Putamen_basal_ganglia

meQTL of rs6493511 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 )
chr155190956451909614E0677959
chr155191005851910112E0678453
chr155191021951910388E0678614
chr155191232251912421E06710717
chr155191248251912597E06710877
chr155191269351912800E06711088
chr155191616251916265E06714557
chr155191021951910388E0688614
chr155192164551921895E07120040
chr155192233651922553E07120731
chr155191021951910388E0748614
chr155191232251912421E08110717
chr155191248251912597E08110877
chr155191269351912800E08111088





Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr155191346951913621E06711864
chr155191362551916161E06712020
chr155191346951913621E06811864
chr155191362551916161E06812020
chr155191346951913621E06911864
chr155191362551916161E06912020
chr155191346951913621E07011864
chr155191362551916161E07012020
chr155191346951913621E07111864
chr155191362551916161E07112020
chr155191346951913621E07211864
chr155191362551916161E07212020
chr155191346951913621E07311864
chr155191362551916161E07312020
chr155191346951913621E07411864
chr155191362551916161E07412020
chr155191346951913621E08111864
chr155191362551916161E08112020
chr155191346951913621E08211864
chr155191362551916161E08212020