Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 15 | NC_000015.10:g.51609408A>G |
GRCh37.p13 chr 15 | NC_000015.9:g.51901605A>G |
DMXL2 RefSeqGene | NG_017155.1:g.18363T>C |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
DMXL2 transcript variant 1 | NM_001174116.1:c. | N/A | Intron Variant |
DMXL2 transcript variant 3 | NM_001174117.1:c. | N/A | Intron Variant |
DMXL2 transcript variant 2 | NM_015263.3:c. | N/A | Intron Variant |
DMXL2 transcript variant X1 | XM_005254255.1:c. | N/A | Intron Variant |
DMXL2 transcript variant X2 | XM_005254256.1:c. | N/A | Intron Variant |
DMXL2 transcript variant X12 | XM_011521402.2:c. | N/A | Intron Variant |
DMXL2 transcript variant X3 | XM_017022034.1:c. | N/A | Genic Upstream Transcript Variant |
DMXL2 transcript variant X6 | XR_001751173.1:n. | N/A | Intron Variant |
DMXL2 transcript variant X8 | XR_001751174.1:n. | N/A | Intron Variant |
DMXL2 transcript variant X9 | XR_001751175.1:n. | N/A | Intron Variant |
DMXL2 transcript variant X10 | XR_001751176.1:n. | N/A | Intron Variant |
DMXL2 transcript variant X11 | XR_001751177.1:n. | N/A | Intron Variant |
DMXL2 transcript variant X4 | XR_931779.2:n. | N/A | Intron Variant |
DMXL2 transcript variant X5 | XR_931780.2:n. | N/A | Intron Variant |
DMXL2 transcript variant X7 | XR_931781.2:n. | N/A | Intron Variant |
DMXL2 transcript variant X13 | XR_931782.2:n. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | A=0.125 | G=0.875 |
1000Genomes | American | Sub | 694 | A=0.180 | G=0.820 |
1000Genomes | East Asian | Sub | 1008 | A=0.011 | G=0.989 |
1000Genomes | Europe | Sub | 1006 | A=0.219 | G=0.781 |
1000Genomes | Global | Study-wide | 5008 | A=0.130 | G=0.870 |
1000Genomes | South Asian | Sub | 978 | A=0.130 | G=0.870 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.230 | G=0.770 |
The Genome Aggregation Database | African | Sub | 8722 | A=0.129 | G=0.871 |
The Genome Aggregation Database | American | Sub | 836 | A=0.130 | G=0.870 |
The Genome Aggregation Database | East Asian | Sub | 1622 | A=0.010 | G=0.990 |
The Genome Aggregation Database | Europe | Sub | 18476 | A=0.207 | G=0.792 |
The Genome Aggregation Database | Global | Study-wide | 29958 | A=0.172 | G=0.827 |
The Genome Aggregation Database | Other | Sub | 302 | A=0.280 | G=0.720 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | A=0.179 | G=0.820 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.244 | G=0.756 |
PMID | Title | Author | Journal |
---|---|---|---|
21314694 | Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample. | Kendler KS | Alcohol Clin Exp Res |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs6493511 | 0.000986 | alcohol dependence | 21314694 |
Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue |
---|---|---|---|---|---|---|
Chr15:51901605 | SCG3 | ENSG00000104112.4 | A>G | 1.7429e-13 | -71945 | Cerebellum |
Chr15:51901605 | SCG3 | ENSG00000104112.4 | A>G | 9.0703e-3 | -71945 | Cortex |
Chr15:51901605 | SCG3 | ENSG00000104112.4 | A>G | 3.9969e-16 | -71945 | Cerebellar_Hemisphere |
Chr15:51901605 | SCG3 | ENSG00000104112.4 | A>G | 5.7051e-6 | -71945 | Caudate_basal_ganglia |
Chr15:51901605 | SCG3 | ENSG00000104112.4 | A>G | 3.4280e-4 | -71945 | Brain_Spinal_cord_cervical |
Chr15:51901605 | SCG3 | ENSG00000104112.4 | A>G | 4.9093e-4 | -71945 | Putamen_basal_ganglia |
Probe ID | Position | Gene | beta | p-value | |||
---|---|---|---|---|---|---|---|
There is no meQTL annotation for this SNP |
There is no significant Hi-C chromatin interaction data for this SNP.
Chromosome | Start | End | Region | Distance ( -/+ : Up/Downstream ) |
---|---|---|---|---|
chr15 | 51909564 | 51909614 | E067 | 7959 |
chr15 | 51910058 | 51910112 | E067 | 8453 |
chr15 | 51910219 | 51910388 | E067 | 8614 |
chr15 | 51912322 | 51912421 | E067 | 10717 |
chr15 | 51912482 | 51912597 | E067 | 10877 |
chr15 | 51912693 | 51912800 | E067 | 11088 |
chr15 | 51916162 | 51916265 | E067 | 14557 |
chr15 | 51910219 | 51910388 | E068 | 8614 |
chr15 | 51921645 | 51921895 | E071 | 20040 |
chr15 | 51922336 | 51922553 | E071 | 20731 |
chr15 | 51910219 | 51910388 | E074 | 8614 |
chr15 | 51912322 | 51912421 | E081 | 10717 |
chr15 | 51912482 | 51912597 | E081 | 10877 |
chr15 | 51912693 | 51912800 | E081 | 11088 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr15 | 51913469 | 51913621 | E067 | 11864 |
chr15 | 51913625 | 51916161 | E067 | 12020 |
chr15 | 51913469 | 51913621 | E068 | 11864 |
chr15 | 51913625 | 51916161 | E068 | 12020 |
chr15 | 51913469 | 51913621 | E069 | 11864 |
chr15 | 51913625 | 51916161 | E069 | 12020 |
chr15 | 51913469 | 51913621 | E070 | 11864 |
chr15 | 51913625 | 51916161 | E070 | 12020 |
chr15 | 51913469 | 51913621 | E071 | 11864 |
chr15 | 51913625 | 51916161 | E071 | 12020 |
chr15 | 51913469 | 51913621 | E072 | 11864 |
chr15 | 51913625 | 51916161 | E072 | 12020 |
chr15 | 51913469 | 51913621 | E073 | 11864 |
chr15 | 51913625 | 51916161 | E073 | 12020 |
chr15 | 51913469 | 51913621 | E074 | 11864 |
chr15 | 51913625 | 51916161 | E074 | 12020 |
chr15 | 51913469 | 51913621 | E081 | 11864 |
chr15 | 51913625 | 51916161 | E081 | 12020 |
chr15 | 51913469 | 51913621 | E082 | 11864 |
chr15 | 51913625 | 51916161 | E082 | 12020 |