| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 9 | NC_000009.12:g.92458319G>T |
| GRCh37.p13 chr 9 | NC_000009.11:g.95220601G>T |
| ASPN RefSeqGene | NG_023430.1:g.29241C>A |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| CENPP transcript variant 1 | NM_001012267.2:c. | N/A | Intron Variant |
| CENPP transcript variant 2 | NM_001286969.1:c. | N/A | Intron Variant |
| CENPP transcript variant 3 | NM_001286971.1:c. | N/A | Genic Upstream Transcript Variant |
| CENPP transcript variant X4 | XM_011518689.1:c. | N/A | Intron Variant |
| CENPP transcript variant X2 | XM_011518685.2:c. | N/A | Genic Downstream Transcript Variant |
| CENPP transcript variant X1 | XM_017014715.1:c. | N/A | Genic Downstream Transcript Variant |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| ASPN transcript variant 2 | NM_001193335.1:c. | N/A | Intron Variant |
| ASPN transcript variant 1 | NM_017680.4:c. | N/A | Intron Variant |
| Study | Population | Group | Sample # | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| 1000Genomes | African | Sub | 1322 | G=0.421 | T=0.579 |
| 1000Genomes | American | Sub | 694 | G=0.860 | T=0.140 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.983 | T=0.017 |
| 1000Genomes | Europe | Sub | 1006 | G=0.824 | T=0.176 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.778 | T=0.222 |
| 1000Genomes | South Asian | Sub | 978 | G=0.940 | T=0.060 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.843 | T=0.157 |
| The Genome Aggregation Database | African | Sub | 8700 | G=0.493 | T=0.507 |
| The Genome Aggregation Database | American | Sub | 836 | G=0.870 | T=0.130 |
| The Genome Aggregation Database | East Asian | Sub | 1620 | G=0.985 | T=0.015 |
| The Genome Aggregation Database | Europe | Sub | 18462 | G=0.841 | T=0.158 |
| The Genome Aggregation Database | Global | Study-wide | 29920 | G=0.748 | T=0.251 |
| The Genome Aggregation Database | Other | Sub | 302 | G=0.830 | T=0.170 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.661 | T=0.339 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.837 | T=0.163 |
| 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 |
|---|---|---|---|
| rs10820978 | 0.000414 | alcohol dependence | 21314694 |
| Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue |
|---|---|---|---|---|---|---|
| Chr9:95220601 | CENPP | ENSG00000188312.9 | G>T | 1.5165e-20 | 132682 | Cerebellum |
| Chr9:95220601 | CENPP | ENSG00000188312.9 | G>T | 1.5704e-16 | 132682 | Frontal_Cortex_BA9 |
| Chr9:95220601 | CENPP | ENSG00000188312.9 | G>T | 7.6963e-9 | 132682 | Hypothalamus |
| Chr9:95220601 | CENPP | ENSG00000188312.9 | G>T | 5.0201e-18 | 132682 | Cortex |
| Chr9:95220601 | CENPP | ENSG00000188312.9 | G>T | 1.9464e-18 | 132682 | Cerebellar_Hemisphere |
| Chr9:95220601 | CENPP | ENSG00000188312.9 | G>T | 2.8739e-16 | 132682 | Caudate_basal_ganglia |
| Chr9:95220601 | CENPP | ENSG00000188312.9 | G>T | 2.6729e-6 | 132682 | Brain_Spinal_cord_cervical |
| Chr9:95220601 | CENPP | ENSG00000188312.9 | G>T | 1.2102e-7 | 132682 | Hippocampus |
| Chr9:95220601 | CENPP | ENSG00000188312.9 | G>T | 4.0502e-12 | 132682 | Putamen_basal_ganglia |
| Chr9:95220601 | CENPP | ENSG00000188312.9 | G>T | 1.0289e-11 | 132682 | Anterior_cingulate_cortex |
| Chr9:95220601 | CENPP | ENSG00000188312.9 | G>T | 1.3039e-18 | 132682 | Nucleus_accumbens_basal_ganglia |
| Chr9:95220601 | CENPP | ENSG00000188312.9 | G>T | 5.9074e-8 | 132682 | Amygdala |
| 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 ) |
|---|---|---|---|---|
| chr9 | 95230298 | 95230490 | E067 | 9697 |
| chr9 | 95230524 | 95230880 | E067 | 9923 |
| chr9 | 95226063 | 95226769 | E068 | 5462 |
| chr9 | 95230298 | 95230490 | E068 | 9697 |
| chr9 | 95230524 | 95230880 | E068 | 9923 |
| chr9 | 95261466 | 95261641 | E068 | 40865 |
| chr9 | 95261660 | 95261710 | E068 | 41059 |
| chr9 | 95262081 | 95262266 | E068 | 41480 |
| chr9 | 95176021 | 95176061 | E069 | -44540 |
| chr9 | 95268128 | 95269150 | E069 | 47527 |
| chr9 | 95188363 | 95188468 | E070 | -32133 |
| chr9 | 95188583 | 95188789 | E070 | -31812 |
| chr9 | 95188824 | 95189310 | E070 | -31291 |
| chr9 | 95189384 | 95189512 | E070 | -31089 |
| chr9 | 95230298 | 95230490 | E071 | 9697 |
| chr9 | 95268128 | 95269150 | E071 | 47527 |
| chr9 | 95176605 | 95176761 | E072 | -43840 |
| chr9 | 95176885 | 95176994 | E072 | -43607 |
| chr9 | 95177005 | 95177164 | E072 | -43437 |
| chr9 | 95177482 | 95177532 | E072 | -43069 |
| chr9 | 95177564 | 95177653 | E072 | -42948 |
| chr9 | 95230298 | 95230490 | E072 | 9697 |
| chr9 | 95230524 | 95230880 | E072 | 9923 |
| chr9 | 95242435 | 95243866 | E073 | 21834 |
| chr9 | 95266735 | 95266792 | E073 | 46134 |
| chr9 | 95268128 | 95269150 | E073 | 47527 |
| chr9 | 95176605 | 95176761 | E074 | -43840 |
| chr9 | 95176885 | 95176994 | E074 | -43607 |
| chr9 | 95177005 | 95177164 | E074 | -43437 |
| chr9 | 95177482 | 95177532 | E074 | -43069 |
| chr9 | 95177564 | 95177653 | E074 | -42948 |
| chr9 | 95230298 | 95230490 | E074 | 9697 |
| chr9 | 95230524 | 95230880 | E074 | 9923 |
| chr9 | 95188824 | 95189310 | E081 | -31291 |