Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 9 | NC_000009.12:g.98521459G>T |
GRCh37.p13 chr 9 | NC_000009.11:g.101283741G>T |
GABBR2 RefSeqGene | NG_016426.1:g.192739C>A |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
GABBR2 transcript | NM_005458.7:c. | N/A | Intron Variant |
GABBR2 transcript variant X2 | XM_005252316.4:c. | N/A | Intron Variant |
GABBR2 transcript variant X1 | XM_017015331.1:c. | N/A | Intron Variant |
GABBR2 transcript variant X3 | XM_017015332.1:c. | N/A | Genic Upstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | G=0.997 | T=0.003 |
1000Genomes | American | Sub | 694 | G=0.890 | T=0.110 |
1000Genomes | East Asian | Sub | 1008 | G=0.887 | T=0.113 |
1000Genomes | Europe | Sub | 1006 | G=0.951 | T=0.049 |
1000Genomes | Global | Study-wide | 5008 | G=0.927 | T=0.073 |
1000Genomes | South Asian | Sub | 978 | G=0.870 | T=0.130 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.940 | T=0.060 |
The Genome Aggregation Database | African | Sub | 8724 | G=0.989 | T=0.011 |
The Genome Aggregation Database | American | Sub | 838 | G=0.910 | T=0.090 |
The Genome Aggregation Database | East Asian | Sub | 1620 | G=0.895 | T=0.105 |
The Genome Aggregation Database | Europe | Sub | 18488 | G=0.947 | T=0.052 |
The Genome Aggregation Database | Global | Study-wide | 29972 | G=0.955 | T=0.044 |
The Genome Aggregation Database | Other | Sub | 302 | G=0.950 | T=0.050 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.963 | T=0.036 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.941 | T=0.059 |
PMID | Title | Author | Journal |
---|---|---|---|
23743675 | A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks. | Kapoor M | Hum Genet |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs944760 | 0.000158 | alcohol consumption | 23743675 |
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 ) |
---|---|---|---|---|
chr9 | 101244117 | 101244221 | E067 | -39520 |
chr9 | 101244364 | 101244501 | E067 | -39240 |
chr9 | 101244613 | 101244850 | E067 | -38891 |
chr9 | 101247599 | 101247639 | E067 | -36102 |
chr9 | 101264430 | 101264500 | E067 | -19241 |
chr9 | 101264682 | 101264896 | E067 | -18845 |
chr9 | 101301518 | 101301681 | E067 | 17777 |
chr9 | 101302863 | 101302998 | E067 | 19122 |
chr9 | 101333369 | 101333432 | E067 | 49628 |
chr9 | 101333566 | 101333680 | E067 | 49825 |
chr9 | 101266568 | 101267319 | E068 | -16422 |
chr9 | 101267321 | 101267388 | E068 | -16353 |
chr9 | 101244117 | 101244221 | E069 | -39520 |
chr9 | 101244364 | 101244501 | E069 | -39240 |
chr9 | 101264129 | 101264423 | E069 | -19318 |
chr9 | 101264430 | 101264500 | E069 | -19241 |
chr9 | 101264995 | 101265632 | E069 | -18109 |
chr9 | 101320873 | 101321235 | E069 | 37132 |
chr9 | 101264020 | 101264074 | E070 | -19667 |
chr9 | 101266568 | 101267319 | E070 | -16422 |
chr9 | 101267321 | 101267388 | E070 | -16353 |
chr9 | 101300930 | 101301348 | E070 | 17189 |
chr9 | 101320873 | 101321235 | E071 | 37132 |
chr9 | 101321941 | 101322119 | E071 | 38200 |
chr9 | 101322232 | 101322436 | E071 | 38491 |
chr9 | 101248361 | 101248411 | E072 | -35330 |
chr9 | 101264129 | 101264423 | E072 | -19318 |
chr9 | 101264430 | 101264500 | E072 | -19241 |
chr9 | 101264682 | 101264896 | E072 | -18845 |
chr9 | 101265877 | 101266026 | E072 | -17715 |
chr9 | 101320873 | 101321235 | E072 | 37132 |
chr9 | 101321669 | 101321719 | E072 | 37928 |
chr9 | 101321941 | 101322119 | E072 | 38200 |
chr9 | 101243726 | 101243812 | E073 | -39929 |
chr9 | 101244117 | 101244221 | E073 | -39520 |
chr9 | 101244364 | 101244501 | E073 | -39240 |
chr9 | 101246097 | 101246201 | E073 | -37540 |
chr9 | 101246382 | 101246572 | E073 | -37169 |
chr9 | 101246634 | 101246818 | E073 | -36923 |
chr9 | 101264430 | 101264500 | E073 | -19241 |
chr9 | 101264682 | 101264896 | E073 | -18845 |
chr9 | 101266568 | 101267319 | E073 | -16422 |
chr9 | 101283482 | 101283709 | E073 | -32 |
chr9 | 101300598 | 101300688 | E073 | 16857 |
chr9 | 101300830 | 101300916 | E073 | 17089 |
chr9 | 101300930 | 101301348 | E073 | 17189 |
chr9 | 101313840 | 101314100 | E073 | 30099 |
chr9 | 101320873 | 101321235 | E073 | 37132 |
chr9 | 101332610 | 101332810 | E073 | 48869 |
chr9 | 101332857 | 101332905 | E073 | 49116 |
chr9 | 101332967 | 101333335 | E073 | 49226 |
chr9 | 101333369 | 101333432 | E073 | 49628 |
chr9 | 101333566 | 101333680 | E073 | 49825 |
chr9 | 101240927 | 101240977 | E081 | -42764 |
chr9 | 101244364 | 101244501 | E081 | -39240 |
chr9 | 101244613 | 101244850 | E081 | -38891 |
chr9 | 101245307 | 101245371 | E081 | -38370 |
chr9 | 101245697 | 101245762 | E081 | -37979 |
chr9 | 101247599 | 101247639 | E081 | -36102 |
chr9 | 101267321 | 101267388 | E081 | -16353 |
chr9 | 101267536 | 101267624 | E081 | -16117 |
chr9 | 101267648 | 101267707 | E081 | -16034 |
chr9 | 101267838 | 101267892 | E081 | -15849 |
chr9 | 101267958 | 101268030 | E081 | -15711 |
chr9 | 101300598 | 101300688 | E081 | 16857 |
chr9 | 101300830 | 101300916 | E081 | 17089 |
chr9 | 101300930 | 101301348 | E081 | 17189 |
chr9 | 101301518 | 101301681 | E081 | 17777 |
chr9 | 101303972 | 101304327 | E081 | 20231 |
chr9 | 101266568 | 101267319 | E082 | -16422 |
chr9 | 101267321 | 101267388 | E082 | -16353 |
chr9 | 101300930 | 101301348 | E082 | 17189 |
chr9 | 101301518 | 101301681 | E082 | 17777 |