Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 13 | NC_000013.11:g.95197426A>G |
GRCh37.p13 chr 13 | NC_000013.10:g.95849680A>G |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
ABCC4 transcript variant 2 | NM_001105515.2:c. | N/A | Intron Variant |
ABCC4 transcript variant 3 | NM_001301829.1:c. | N/A | Intron Variant |
ABCC4 transcript variant 4 | NM_001301830.1:c. | N/A | Intron Variant |
ABCC4 transcript variant 1 | NM_005845.4:c. | N/A | Intron Variant |
ABCC4 transcript variant X2 | XM_005254025.2:c. | N/A | Intron Variant |
ABCC4 transcript variant X1 | XM_017020319.1:c. | N/A | Intron Variant |
ABCC4 transcript variant X3 | XM_017020320.1:c. | N/A | Intron Variant |
ABCC4 transcript variant X5 | XM_017020322.1:c. | N/A | Intron Variant |
ABCC4 transcript variant X4 | XM_017020321.1:c. | N/A | Genic Upstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | A=0.787 | G=0.213 |
1000Genomes | American | Sub | 694 | A=0.940 | G=0.060 |
1000Genomes | East Asian | Sub | 1008 | A=0.813 | G=0.187 |
1000Genomes | Europe | Sub | 1006 | A=0.917 | G=0.083 |
1000Genomes | Global | Study-wide | 5008 | A=0.848 | G=0.152 |
1000Genomes | South Asian | Sub | 978 | A=0.830 | G=0.170 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.929 | G=0.071 |
The Genome Aggregation Database | African | Sub | 8718 | A=0.823 | G=0.177 |
The Genome Aggregation Database | American | Sub | 838 | A=0.910 | G=0.090 |
The Genome Aggregation Database | East Asian | Sub | 1614 | A=0.840 | G=0.160 |
The Genome Aggregation Database | Europe | Sub | 18500 | A=0.933 | G=0.066 |
The Genome Aggregation Database | Global | Study-wide | 29972 | A=0.895 | G=0.104 |
The Genome Aggregation Database | Other | Sub | 302 | A=0.890 | G=0.110 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | A=0.883 | G=0.116 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.940 | G=0.060 |
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 |
---|---|---|---|
rs4148478 | 0.000757 | 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 | 95833027 | 95833322 | E067 | -16358 |
chr13 | 95833537 | 95833613 | E067 | -16067 |
chr13 | 95833836 | 95833925 | E067 | -15755 |
chr13 | 95833941 | 95834162 | E067 | -15518 |
chr13 | 95845782 | 95846103 | E068 | -3577 |
chr13 | 95846144 | 95846250 | E068 | -3430 |
chr13 | 95887734 | 95887821 | E068 | 38054 |
chr13 | 95887945 | 95888111 | E068 | 38265 |
chr13 | 95888118 | 95888179 | E068 | 38438 |
chr13 | 95888258 | 95888550 | E068 | 38578 |
chr13 | 95845060 | 95845373 | E069 | -4307 |
chr13 | 95845722 | 95845780 | E069 | -3900 |
chr13 | 95845782 | 95846103 | E069 | -3577 |
chr13 | 95846144 | 95846250 | E069 | -3430 |
chr13 | 95846281 | 95846360 | E069 | -3320 |
chr13 | 95846410 | 95846460 | E069 | -3220 |
chr13 | 95846495 | 95846671 | E069 | -3009 |
chr13 | 95846794 | 95846834 | E069 | -2846 |
chr13 | 95897973 | 95898142 | E069 | 48293 |
chr13 | 95898379 | 95898459 | E069 | 48699 |
chr13 | 95805921 | 95807180 | E070 | -42500 |
chr13 | 95807880 | 95808389 | E070 | -41291 |
chr13 | 95808570 | 95808722 | E070 | -40958 |
chr13 | 95844021 | 95844755 | E070 | -4925 |
chr13 | 95846144 | 95846250 | E070 | -3430 |
chr13 | 95846281 | 95846360 | E070 | -3320 |
chr13 | 95847538 | 95847671 | E070 | -2009 |
chr13 | 95847725 | 95847781 | E070 | -1899 |
chr13 | 95845722 | 95845780 | E071 | -3900 |
chr13 | 95845782 | 95846103 | E071 | -3577 |
chr13 | 95846144 | 95846250 | E071 | -3430 |
chr13 | 95846281 | 95846360 | E071 | -3320 |
chr13 | 95846410 | 95846460 | E071 | -3220 |
chr13 | 95846495 | 95846671 | E071 | -3009 |
chr13 | 95846794 | 95846834 | E071 | -2846 |
chr13 | 95845782 | 95846103 | E072 | -3577 |
chr13 | 95846144 | 95846250 | E072 | -3430 |
chr13 | 95846281 | 95846360 | E072 | -3320 |
chr13 | 95846144 | 95846250 | E073 | -3430 |
chr13 | 95846281 | 95846360 | E073 | -3320 |
chr13 | 95846410 | 95846460 | E073 | -3220 |
chr13 | 95846144 | 95846250 | E074 | -3430 |
chr13 | 95846281 | 95846360 | E074 | -3320 |
chr13 | 95846410 | 95846460 | E074 | -3220 |
chr13 | 95846495 | 95846671 | E074 | -3009 |
chr13 | 95846794 | 95846834 | E074 | -2846 |