| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 12 | NC_000012.12:g.130497072A>C |
| GRCh37.p13 chr 12 | NC_000012.11:g.130981617A>C |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| RIMBP2 transcript | NM_015347.4:c. | N/A | Intron Variant |
| RIMBP2 transcript variant X1 | XM_011538102.1:c. | N/A | Intron Variant |
| RIMBP2 transcript variant X2 | XM_011538103.2:c. | N/A | Intron Variant |
| RIMBP2 transcript variant X3 | XM_011538104.2:c. | N/A | Intron Variant |
| RIMBP2 transcript variant X5 | XM_011538105.2:c. | N/A | Intron Variant |
| RIMBP2 transcript variant X6 | XM_011538106.2:c. | N/A | Intron Variant |
| RIMBP2 transcript variant X13 | XM_011538107.2:c. | N/A | Intron Variant |
| RIMBP2 transcript variant X14 | XM_011538108.2:c. | N/A | Intron Variant |
| RIMBP2 transcript variant X4 | XM_017019105.1:c. | N/A | Intron Variant |
| RIMBP2 transcript variant X7 | XM_017019106.1:c. | N/A | Intron Variant |
| RIMBP2 transcript variant X8 | XM_017019107.1:c. | N/A | Intron Variant |
| RIMBP2 transcript variant X9 | XM_017019108.1:c. | N/A | Intron Variant |
| RIMBP2 transcript variant X10 | XM_017019109.1:c. | N/A | Intron Variant |
| RIMBP2 transcript variant X11 | XM_017019110.1:c. | N/A | Intron Variant |
| RIMBP2 transcript variant X12 | XM_017019111.1:c. | N/A | Intron Variant |
| RIMBP2 transcript variant X15 | XM_017019112.1:c. | N/A | Intron Variant |
| Study | Population | Group | Sample # | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| 1000Genomes | African | Sub | 1322 | A=0.994 | C=0.006 |
| 1000Genomes | American | Sub | 694 | A=0.960 | C=0.040 |
| 1000Genomes | East Asian | Sub | 1008 | A=0.814 | C=0.186 |
| 1000Genomes | Europe | Sub | 1006 | A=0.916 | C=0.084 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.923 | C=0.077 |
| 1000Genomes | South Asian | Sub | 978 | A=0.920 | C=0.080 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.920 | C=0.080 |
| The Genome Aggregation Database | African | Sub | 8714 | A=0.981 | C=0.019 |
| The Genome Aggregation Database | American | Sub | 834 | A=0.940 | C=0.060 |
| The Genome Aggregation Database | East Asian | Sub | 1616 | A=0.837 | C=0.163 |
| The Genome Aggregation Database | Europe | Sub | 18438 | A=0.902 | C=0.097 |
| The Genome Aggregation Database | Global | Study-wide | 29904 | A=0.922 | C=0.077 |
| The Genome Aggregation Database | Other | Sub | 302 | A=0.870 | C=0.130 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | A=0.939 | C=0.061 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.903 | C=0.097 |
| PMID | Title | Author | Journal |
|---|---|---|---|
| 23953852 | Genome-wide association studies of maximum number of drinks. | Pan Y | J Psychiatr Res |
| SNP ID | p-value | Traits | Study |
|---|---|---|---|
| rs2048779 | 4.05E-05 | alcohol consumption | 23953852 |
| 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 ) |
|---|---|---|---|---|
| chr12 | 130941767 | 130941817 | E069 | -39800 |
| chr12 | 130941936 | 130941987 | E069 | -39630 |
| chr12 | 130941990 | 130942098 | E069 | -39519 |
| chr12 | 130940981 | 130941031 | E070 | -40586 |
| chr12 | 130941199 | 130941704 | E070 | -39913 |
| chr12 | 130941767 | 130941817 | E070 | -39800 |
| chr12 | 130941936 | 130941987 | E070 | -39630 |
| chr12 | 130941990 | 130942098 | E070 | -39519 |
| chr12 | 130942476 | 130942875 | E070 | -38742 |
| chr12 | 130943084 | 130943124 | E070 | -38493 |
| chr12 | 130947116 | 130947166 | E070 | -34451 |
| chr12 | 130947213 | 130947269 | E070 | -34348 |
| chr12 | 130947281 | 130947391 | E070 | -34226 |
| chr12 | 130948584 | 130948801 | E070 | -32816 |
| chr12 | 130949325 | 130949382 | E070 | -32235 |
| chr12 | 130949877 | 130949947 | E070 | -31670 |
| chr12 | 130956780 | 130956840 | E070 | -24777 |
| chr12 | 130956845 | 130956895 | E070 | -24722 |
| chr12 | 130957205 | 130957451 | E070 | -24166 |
| chr12 | 130957524 | 130957862 | E070 | -23755 |
| chr12 | 130957867 | 130957907 | E070 | -23710 |
| chr12 | 130957920 | 130957997 | E070 | -23620 |
| chr12 | 130958307 | 130958347 | E070 | -23270 |
| chr12 | 130959422 | 130959490 | E070 | -22127 |
| chr12 | 130959529 | 130959702 | E070 | -21915 |
| chr12 | 130977209 | 130977262 | E070 | -4355 |
| chr12 | 130991469 | 130991614 | E070 | 9852 |
| chr12 | 130997924 | 130998045 | E070 | 16307 |
| chr12 | 130998069 | 130998572 | E070 | 16452 |
| chr12 | 130998617 | 130999139 | E070 | 17000 |
| chr12 | 130999161 | 130999224 | E070 | 17544 |
| chr12 | 130941990 | 130942098 | E071 | -39519 |
| chr12 | 130956780 | 130956840 | E071 | -24777 |
| chr12 | 130956845 | 130956895 | E071 | -24722 |
| chr12 | 130957205 | 130957451 | E071 | -24166 |
| chr12 | 130947213 | 130947269 | E072 | -34348 |
| chr12 | 130947281 | 130947391 | E072 | -34226 |
| chr12 | 130965851 | 130965969 | E072 | -15648 |
| chr12 | 130966857 | 130966942 | E072 | -14675 |
| chr12 | 130966979 | 130967343 | E072 | -14274 |
| chr12 | 130941936 | 130941987 | E073 | -39630 |
| chr12 | 130947116 | 130947166 | E073 | -34451 |
| chr12 | 130947213 | 130947269 | E073 | -34348 |
| chr12 | 130947281 | 130947391 | E073 | -34226 |
| chr12 | 130948584 | 130948801 | E073 | -32816 |
| chr12 | 130954828 | 130954878 | E073 | -26739 |
| chr12 | 130957524 | 130957862 | E073 | -23755 |
| chr12 | 130957867 | 130957907 | E073 | -23710 |
| chr12 | 130957920 | 130957997 | E073 | -23620 |
| chr12 | 130958307 | 130958347 | E073 | -23270 |
| chr12 | 130958722 | 130958776 | E073 | -22841 |
| chr12 | 130958861 | 130958938 | E073 | -22679 |
| chr12 | 130973262 | 130973416 | E073 | -8201 |
| chr12 | 130973509 | 130973559 | E073 | -8058 |
| chr12 | 130973578 | 130973644 | E073 | -7973 |
| chr12 | 131006175 | 131006239 | E073 | 24558 |
| chr12 | 131006743 | 131006823 | E073 | 25126 |
| chr12 | 131006914 | 131006988 | E073 | 25297 |
| chr12 | 131008766 | 131008816 | E073 | 27149 |
| chr12 | 131008975 | 131009046 | E073 | 27358 |
| chr12 | 131023083 | 131023331 | E073 | 41466 |
| chr12 | 130939484 | 130939619 | E081 | -41998 |
| chr12 | 130939716 | 130939756 | E081 | -41861 |
| chr12 | 130939903 | 130939953 | E081 | -41664 |
| chr12 | 130940657 | 130940778 | E081 | -40839 |
| chr12 | 130940981 | 130941031 | E081 | -40586 |
| chr12 | 130941199 | 130941704 | E081 | -39913 |
| chr12 | 130941767 | 130941817 | E081 | -39800 |
| chr12 | 130941936 | 130941987 | E081 | -39630 |
| chr12 | 130941990 | 130942098 | E081 | -39519 |
| chr12 | 130942476 | 130942875 | E081 | -38742 |
| chr12 | 130943084 | 130943124 | E081 | -38493 |
| chr12 | 130943718 | 130943807 | E081 | -37810 |
| chr12 | 130944591 | 130944726 | E081 | -36891 |
| chr12 | 130945002 | 130945046 | E081 | -36571 |
| chr12 | 130945515 | 130945572 | E081 | -36045 |
| chr12 | 130945594 | 130945710 | E081 | -35907 |
| chr12 | 130945996 | 130946046 | E081 | -35571 |
| chr12 | 130946170 | 130946242 | E081 | -35375 |
| chr12 | 130946552 | 130946636 | E081 | -34981 |
| chr12 | 130946813 | 130946929 | E081 | -34688 |
| chr12 | 130947116 | 130947166 | E081 | -34451 |
| chr12 | 130947213 | 130947269 | E081 | -34348 |
| chr12 | 130947281 | 130947391 | E081 | -34226 |
| chr12 | 130948584 | 130948801 | E081 | -32816 |
| chr12 | 130949325 | 130949382 | E081 | -32235 |
| chr12 | 130949877 | 130949947 | E081 | -31670 |
| chr12 | 130950298 | 130950338 | E081 | -31279 |
| chr12 | 130956780 | 130956840 | E081 | -24777 |
| chr12 | 130956845 | 130956895 | E081 | -24722 |
| chr12 | 130957205 | 130957451 | E081 | -24166 |
| chr12 | 130957524 | 130957862 | E081 | -23755 |
| chr12 | 130957867 | 130957907 | E081 | -23710 |
| chr12 | 130957920 | 130957997 | E081 | -23620 |
| chr12 | 130958307 | 130958347 | E081 | -23270 |
| chr12 | 130958722 | 130958776 | E081 | -22841 |
| chr12 | 130965662 | 130965722 | E081 | -15895 |
| chr12 | 130970843 | 130970893 | E081 | -10724 |
| chr12 | 130971721 | 130971807 | E081 | -9810 |
| chr12 | 130972610 | 130973171 | E081 | -8446 |
| chr12 | 130973262 | 130973416 | E081 | -8201 |
| chr12 | 130973509 | 130973559 | E081 | -8058 |
| chr12 | 130973578 | 130973644 | E081 | -7973 |
| chr12 | 130973741 | 130973790 | E081 | -7827 |
| chr12 | 130975052 | 130975123 | E081 | -6494 |
| chr12 | 130975270 | 130975334 | E081 | -6283 |
| chr12 | 130977209 | 130977262 | E081 | -4355 |
| chr12 | 130978402 | 130978452 | E081 | -3165 |
| chr12 | 130978459 | 130978528 | E081 | -3089 |
| chr12 | 130978542 | 130978592 | E081 | -3025 |
| chr12 | 130981974 | 130982179 | E081 | 357 |
| chr12 | 130982322 | 130982423 | E081 | 705 |
| chr12 | 130982737 | 130982834 | E081 | 1120 |
| chr12 | 130987985 | 130988146 | E081 | 6368 |
| chr12 | 130988238 | 130988356 | E081 | 6621 |
| chr12 | 130988567 | 130988617 | E081 | 6950 |
| chr12 | 130988811 | 130988861 | E081 | 7194 |
| chr12 | 130988970 | 130989093 | E081 | 7353 |
| chr12 | 130989149 | 130989199 | E081 | 7532 |
| chr12 | 130989229 | 130989401 | E081 | 7612 |
| chr12 | 130997924 | 130998045 | E081 | 16307 |
| chr12 | 130998069 | 130998572 | E081 | 16452 |
| chr12 | 130998617 | 130999139 | E081 | 17000 |
| chr12 | 130999161 | 130999224 | E081 | 17544 |
| chr12 | 131009992 | 131010052 | E081 | 28375 |
| chr12 | 131010351 | 131010435 | E081 | 28734 |
| chr12 | 131011430 | 131011688 | E081 | 29813 |
| chr12 | 131011873 | 131012098 | E081 | 30256 |
| chr12 | 131022933 | 131022993 | E081 | 41316 |
| chr12 | 131023083 | 131023331 | E081 | 41466 |
| chr12 | 131030149 | 131030199 | E081 | 48532 |
| chr12 | 130941199 | 130941704 | E082 | -39913 |
| chr12 | 130941767 | 130941817 | E082 | -39800 |
| chr12 | 130941936 | 130941987 | E082 | -39630 |
| chr12 | 130941990 | 130942098 | E082 | -39519 |
| chr12 | 130942476 | 130942875 | E082 | -38742 |
| chr12 | 130946813 | 130946929 | E082 | -34688 |
| chr12 | 130947116 | 130947166 | E082 | -34451 |
| chr12 | 130947213 | 130947269 | E082 | -34348 |
| chr12 | 130947281 | 130947391 | E082 | -34226 |
| chr12 | 130948584 | 130948801 | E082 | -32816 |
| chr12 | 130956780 | 130956840 | E082 | -24777 |
| chr12 | 130956845 | 130956895 | E082 | -24722 |
| chr12 | 130965851 | 130965969 | E082 | -15648 |
| chr12 | 130966024 | 130966183 | E082 | -15434 |
| chr12 | 130966572 | 130966632 | E082 | -14985 |
| chr12 | 130966666 | 130966775 | E082 | -14842 |
| chr12 | 130966857 | 130966942 | E082 | -14675 |
| chr12 | 130966979 | 130967343 | E082 | -14274 |
| chr12 | 130970449 | 130970548 | E082 | -11069 |
| chr12 | 130981974 | 130982179 | E082 | 357 |
| chr12 | 130982322 | 130982423 | E082 | 705 |
| chr12 | 130988238 | 130988356 | E082 | 6621 |
| chr12 | 130988567 | 130988617 | E082 | 6950 |
| chr12 | 130997924 | 130998045 | E082 | 16307 |
| chr12 | 130998069 | 130998572 | E082 | 16452 |
| chr12 | 130998617 | 130999139 | E082 | 17000 |
| chr12 | 131009992 | 131010052 | E082 | 28375 |
| chr12 | 131010351 | 131010435 | E082 | 28734 |