Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 15 | NC_000015.10:g.50060690A>G |
GRCh37.p13 chr 15 | NC_000015.9:g.50352887A>G |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
ATP8B4 transcript variant 1 | NM_024837.3:c. | N/A | Intron Variant |
ATP8B4 transcript variant 2 | NR_073596.1:n. | N/A | Intron Variant |
ATP8B4 transcript variant 3 | NR_073597.1:n. | N/A | Intron Variant |
ATP8B4 transcript variant 4 | NR_073598.1:n. | N/A | Intron Variant |
ATP8B4 transcript variant X1 | XM_011522046.2:c. | N/A | Intron Variant |
ATP8B4 transcript variant X3 | XM_011522047.2:c. | N/A | Intron Variant |
ATP8B4 transcript variant X4 | XM_011522048.1:c. | N/A | Intron Variant |
ATP8B4 transcript variant X5 | XM_011522049.2:c. | N/A | Intron Variant |
ATP8B4 transcript variant X11 | XM_011522051.2:c. | N/A | Intron Variant |
ATP8B4 transcript variant X9 | XM_011522052.2:c. | N/A | Intron Variant |
ATP8B4 transcript variant X8 | XM_011522053.1:c. | N/A | Intron Variant |
ATP8B4 transcript variant X1 | XM_011522056.2:c. | N/A | Intron Variant |
ATP8B4 transcript variant X17 | XM_011522058.2:c. | N/A | Intron Variant |
ATP8B4 transcript variant X2 | XM_017022587.1:c. | N/A | Intron Variant |
ATP8B4 transcript variant X3 | XM_017022588.1:c. | N/A | Intron Variant |
ATP8B4 transcript variant X4 | XM_017022589.1:c. | N/A | Intron Variant |
ATP8B4 transcript variant X10 | XM_017022590.1:c. | N/A | Intron Variant |
ATP8B4 transcript variant X9 | XM_017022591.1:c. | N/A | Intron Variant |
ATP8B4 transcript variant X12 | XM_017022592.1:c. | N/A | Intron Variant |
ATP8B4 transcript variant X15 | XM_017022593.1:c. | N/A | Intron Variant |
ATP8B4 transcript variant X14 | XM_017022594.1:c. | N/A | Intron Variant |
ATP8B4 transcript variant X30 | XM_017022597.1:c. | N/A | Intron Variant |
ATP8B4 transcript variant X31 | XM_017022598.1:c. | N/A | Intron Variant |
ATP8B4 transcript variant X32 | XM_017022599.1:c. | N/A | Intron Variant |
ATP8B4 transcript variant X16 | XM_011522059.1:c. | N/A | Genic Upstream Transcript Variant |
ATP8B4 transcript variant X17 | XM_011522060.1:c. | N/A | Genic Upstream Transcript Variant |
ATP8B4 transcript variant X18 | XM_011522061.1:c. | N/A | Genic Upstream Transcript Variant |
ATP8B4 transcript variant X20 | XM_011522062.1:c. | N/A | Genic Upstream Transcript Variant |
ATP8B4 transcript variant X21 | XM_011522063.1:c. | N/A | Genic Upstream Transcript Variant |
ATP8B4 transcript variant X26 | XM_011522064.1:c. | N/A | Genic Upstream Transcript Variant |
ATP8B4 transcript variant X27 | XM_011522069.2:c. | N/A | Genic Upstream Transcript Variant |
ATP8B4 transcript variant X29 | XM_011522070.1:c. | N/A | Genic Upstream Transcript Variant |
ATP8B4 transcript variant X21 | XM_017022595.1:c. | N/A | Genic Upstream Transcript Variant |
ATP8B4 transcript variant X25 | XM_017022596.1:c. | N/A | Genic Upstream Transcript Variant |
ATP8B4 transcript variant X24 | XR_001751394.1:n. | N/A | Intron Variant |
ATP8B4 transcript variant X25 | XR_001751395.1:n. | N/A | Intron Variant |
ATP8B4 transcript variant X29 | XR_001751396.1:n. | N/A | Intron Variant |
ATP8B4 transcript variant X33 | XR_001751397.1:n. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | A=0.843 | G=0.157 |
1000Genomes | American | Sub | 694 | A=0.960 | G=0.040 |
1000Genomes | East Asian | Sub | 1008 | A=0.969 | G=0.031 |
1000Genomes | Europe | Sub | 1006 | A=0.974 | G=0.026 |
1000Genomes | Global | Study-wide | 5008 | A=0.926 | G=0.074 |
1000Genomes | South Asian | Sub | 978 | A=0.920 | G=0.080 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.972 | G=0.028 |
The Genome Aggregation Database | African | Sub | 8706 | A=0.870 | G=0.130 |
The Genome Aggregation Database | American | Sub | 838 | A=0.960 | G=0.040 |
The Genome Aggregation Database | East Asian | Sub | 1618 | A=0.958 | G=0.042 |
The Genome Aggregation Database | Europe | Sub | 18498 | A=0.974 | G=0.025 |
The Genome Aggregation Database | Global | Study-wide | 29962 | A=0.942 | G=0.057 |
The Genome Aggregation Database | Other | Sub | 302 | A=0.950 | G=0.050 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | A=0.921 | G=0.079 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.971 | G=0.029 |
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 |
---|---|---|---|
rs8024393 | 0.000335 | 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 ) |
---|---|---|---|---|
chr15 | 50343630 | 50343709 | E067 | -9178 |
chr15 | 50343766 | 50343816 | E067 | -9071 |
chr15 | 50343858 | 50344524 | E067 | -8363 |
chr15 | 50350147 | 50350950 | E067 | -1937 |
chr15 | 50347042 | 50348377 | E068 | -4510 |
chr15 | 50350147 | 50350950 | E068 | -1937 |
chr15 | 50343858 | 50344524 | E069 | -8363 |
chr15 | 50350147 | 50350950 | E069 | -1937 |
chr15 | 50343630 | 50343709 | E071 | -9178 |
chr15 | 50343766 | 50343816 | E071 | -9071 |
chr15 | 50343858 | 50344524 | E071 | -8363 |
chr15 | 50347042 | 50348377 | E071 | -4510 |
chr15 | 50348429 | 50348514 | E071 | -4373 |
chr15 | 50350147 | 50350950 | E071 | -1937 |
chr15 | 50359420 | 50359785 | E071 | 6533 |
chr15 | 50359942 | 50359992 | E071 | 7055 |
chr15 | 50359995 | 50360062 | E071 | 7108 |
chr15 | 50350147 | 50350950 | E072 | -1937 |
chr15 | 50350147 | 50350950 | E073 | -1937 |
chr15 | 50343766 | 50343816 | E074 | -9071 |
chr15 | 50343858 | 50344524 | E074 | -8363 |
chr15 | 50350147 | 50350950 | E074 | -1937 |