Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 13 | NC_000013.11:g.25688042A>G |
ATP8A2 RefSeqGene | NG_042855.1:g.321032A>G |
GRCh38.p7 chr 13 alt locus HSCHR13_1_CTG2 | NT_187593.1:g.144626T>C |
GRCh37.p13 chr 13 | NC_000013.10:g.26262180A>G |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
ATP8A2 transcript variant 2 | NM_001313741.1:c. | N/A | Intron Variant |
ATP8A2 transcript variant 1 | NM_016529.5:c. | N/A | Intron Variant |
ATP8A2 transcript variant X2 | XM_005266419.1:c. | N/A | Intron Variant |
ATP8A2 transcript variant X1 | XM_011535103.1:c. | N/A | Intron Variant |
ATP8A2 transcript variant X3 | XM_011535104.2:c. | N/A | Intron Variant |
ATP8A2 transcript variant X4 | XM_011535106.1:c. | N/A | Intron Variant |
ATP8A2 transcript variant X5 | XM_011535107.2:c. | N/A | Intron Variant |
ATP8A2 transcript variant X6 | XM_011535109.2:c. | N/A | Intron Variant |
ATP8A2 transcript variant X7 | XM_011535112.1:c. | N/A | Intron Variant |
ATP8A2 transcript variant X8 | XM_011535113.2:c. | N/A | Intron Variant |
ATP8A2 transcript variant X9 | XM_017020625.1:c. | N/A | Genic Downstream Transcript Variant |
ATP8A2 transcript variant X10 | XM_017020626.1:c. | N/A | Genic Downstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | A=0.905 | G=0.095 |
1000Genomes | American | Sub | 694 | A=0.940 | G=0.060 |
1000Genomes | East Asian | Sub | 1008 | A=0.758 | G=0.242 |
1000Genomes | Europe | Sub | 1006 | A=0.899 | G=0.101 |
1000Genomes | Global | Study-wide | 5008 | A=0.886 | G=0.114 |
1000Genomes | South Asian | Sub | 978 | A=0.940 | G=0.060 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.889 | G=0.111 |
The Genome Aggregation Database | African | Sub | 8710 | A=0.912 | G=0.088 |
The Genome Aggregation Database | American | Sub | 838 | A=0.920 | G=0.080 |
The Genome Aggregation Database | East Asian | Sub | 1594 | A=0.745 | G=0.255 |
The Genome Aggregation Database | Europe | Sub | 18446 | A=0.888 | G=0.111 |
The Genome Aggregation Database | Global | Study-wide | 29888 | A=0.889 | G=0.110 |
The Genome Aggregation Database | Other | Sub | 300 | A=0.970 | G=0.030 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29116 | A=0.889 | G=0.110 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.884 | G=0.116 |
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 |
---|---|---|---|
rs17685787 | 0.000725 | alcohol dependence | 21314694 |
Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue | |
---|---|---|---|---|---|---|---|
There is no eQTL annotation for this SNP |
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 ) |
---|---|---|---|---|
chr13 | 26265910 | 26266066 | E070 | 3730 |
chr13 | 26266129 | 26266755 | E070 | 3949 |
chr13 | 26281791 | 26281855 | E070 | 19611 |
chr13 | 26281949 | 26282160 | E070 | 19769 |
chr13 | 26282209 | 26282300 | E070 | 20029 |
chr13 | 26301039 | 26301102 | E070 | 38859 |
chr13 | 26301231 | 26301281 | E070 | 39051 |
chr13 | 26301296 | 26301362 | E070 | 39116 |
chr13 | 26301479 | 26301758 | E070 | 39299 |
chr13 | 26311586 | 26311636 | E070 | 49406 |
chr13 | 26261399 | 26262359 | E073 | 0 |
chr13 | 26233236 | 26233564 | E081 | -28616 |
chr13 | 26233573 | 26233805 | E081 | -28375 |
chr13 | 26261399 | 26262359 | E081 | 0 |
chr13 | 26262584 | 26262656 | E081 | 404 |
chr13 | 26262661 | 26263075 | E081 | 481 |
chr13 | 26281949 | 26282160 | E081 | 19769 |
chr13 | 26282209 | 26282300 | E081 | 20029 |
chr13 | 26305778 | 26306350 | E081 | 43598 |
chr13 | 26265910 | 26266066 | E082 | 3730 |
chr13 | 26266129 | 26266755 | E082 | 3949 |
chr13 | 26305597 | 26305667 | E082 | 43417 |
chr13 | 26305778 | 26306350 | E082 | 43598 |