Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 2 | NC_000002.12:g.30648942G>A |
GRCh37.p13 chr 2 | NC_000002.11:g.30871808G>A |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
CAPN13 transcript | NM_144575.2:c. | N/A | Genic Downstream Transcript Variant |
CAPN13 transcript variant X7 | XM_017005265.1:c. | N/A | Intron Variant |
CAPN13 transcript variant X1 | XM_011533159.2:c. | N/A | Genic Downstream Transcript Variant |
CAPN13 transcript variant X4 | XM_011533160.2:c. | N/A | Genic Downstream Transcript Variant |
CAPN13 transcript variant X6 | XM_011533161.2:c. | N/A | Genic Downstream Transcript Variant |
CAPN13 transcript variant X11 | XM_011533163.2:c. | N/A | Genic Downstream Transcript Variant |
CAPN13 transcript variant X5 | XM_017005264.1:c. | N/A | Genic Downstream Transcript Variant |
CAPN13 transcript variant X8 | XM_017005266.1:c. | N/A | Genic Downstream Transcript Variant |
CAPN13 transcript variant X9 | XR_001739074.1:n. | N/A | Genic Downstream Transcript Variant |
CAPN13 transcript variant X2 | XR_939741.2:n. | N/A | Genic Downstream Transcript Variant |
CAPN13 transcript variant X3 | XR_939742.2:n. | N/A | Genic Downstream Transcript Variant |
CAPN13 transcript variant X9 | XR_939743.2:n. | N/A | Genic Downstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | G=0.229 | A=0.771 |
1000Genomes | American | Sub | 694 | G=0.130 | A=0.870 |
1000Genomes | East Asian | Sub | 1008 | G=0.134 | A=0.866 |
1000Genomes | Europe | Sub | 1006 | G=0.208 | A=0.792 |
1000Genomes | Global | Study-wide | 5008 | G=0.211 | A=0.789 |
1000Genomes | South Asian | Sub | 978 | G=0.320 | A=0.680 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.190 | A=0.810 |
The Genome Aggregation Database | African | Sub | 8604 | G=0.241 | A=0.759 |
The Genome Aggregation Database | American | Sub | 832 | G=0.110 | A=0.890 |
The Genome Aggregation Database | East Asian | Sub | 1612 | G=0.135 | A=0.865 |
The Genome Aggregation Database | Europe | Sub | 18158 | G=0.215 | A=0.784 |
The Genome Aggregation Database | Global | Study-wide | 29504 | G=0.216 | A=0.783 |
The Genome Aggregation Database | Other | Sub | 298 | G=0.280 | A=0.720 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29116 | G=0.200 | A=0.800 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.191 | A=0.809 |
PMID | Title | Author | Journal |
---|---|---|---|
20201924 | Genome-wide association study of alcohol dependence implicates a region on chromosome 11. | Edenberg HJ | Alcohol Clin Exp Res |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs2609954 | 0.0001 | alcohol dependence | 20201924 |
Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue |
---|---|---|---|---|---|---|
Chr2:30871808 | LCLAT1 | ENSG00000172954.9 | G>A | 9.0207e-7 | 201716 | Cortex |
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 ) |
---|---|---|---|---|
chr2 | 30902693 | 30902896 | E067 | 30885 |
chr2 | 30902693 | 30902896 | E068 | 30885 |
chr2 | 30911779 | 30912027 | E069 | 39971 |
chr2 | 30912205 | 30912725 | E069 | 40397 |
chr2 | 30827018 | 30827167 | E070 | -44641 |
chr2 | 30828144 | 30828346 | E070 | -43462 |
chr2 | 30848791 | 30849130 | E070 | -22678 |
chr2 | 30849230 | 30849292 | E070 | -22516 |
chr2 | 30850048 | 30850193 | E070 | -21615 |
chr2 | 30902693 | 30902896 | E070 | 30885 |
chr2 | 30909393 | 30909507 | E070 | 37585 |
chr2 | 30909561 | 30909697 | E070 | 37753 |
chr2 | 30909712 | 30909786 | E070 | 37904 |
chr2 | 30911274 | 30911335 | E070 | 39466 |
chr2 | 30911779 | 30912027 | E070 | 39971 |
chr2 | 30912205 | 30912725 | E070 | 40397 |
chr2 | 30902693 | 30902896 | E071 | 30885 |
chr2 | 30902693 | 30902896 | E073 | 30885 |
chr2 | 30911779 | 30912027 | E073 | 39971 |
chr2 | 30912205 | 30912725 | E073 | 40397 |
chr2 | 30913035 | 30913126 | E073 | 41227 |
chr2 | 30913168 | 30913249 | E073 | 41360 |
chr2 | 30913266 | 30913362 | E073 | 41458 |
chr2 | 30901711 | 30901854 | E081 | 29903 |
chr2 | 30902693 | 30902896 | E081 | 30885 |
chr2 | 30906940 | 30907725 | E081 | 35132 |
chr2 | 30911274 | 30911335 | E081 | 39466 |
chr2 | 30911779 | 30912027 | E081 | 39971 |
chr2 | 30917246 | 30917336 | E081 | 45438 |
chr2 | 30917525 | 30917939 | E081 | 45717 |
chr2 | 30828144 | 30828346 | E082 | -43462 |
chr2 | 30902693 | 30902896 | E082 | 30885 |
chr2 | 30906940 | 30907725 | E082 | 35132 |
chr2 | 30911274 | 30911335 | E082 | 39466 |
chr2 | 30911779 | 30912027 | E082 | 39971 |
chr2 | 30912205 | 30912725 | E082 | 40397 |