Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 15 | NC_000015.10:g.80845525C>T |
GRCh37.p13 chr 15 | NC_000015.9:g.81137866C>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
CEMIP transcript variant 1 | NM_001293298.1:c. | N/A | Intron Variant |
CEMIP transcript variant 2 | NM_001293304.1:c. | N/A | Intron Variant |
CEMIP transcript variant 3 | NM_018689.2:c. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | C=0.899 | T=0.101 |
1000Genomes | American | Sub | 694 | C=0.660 | T=0.340 |
1000Genomes | East Asian | Sub | 1008 | C=0.495 | T=0.505 |
1000Genomes | Europe | Sub | 1006 | C=0.762 | T=0.238 |
1000Genomes | Global | Study-wide | 5008 | C=0.731 | T=0.269 |
1000Genomes | South Asian | Sub | 978 | C=0.760 | T=0.240 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.783 | T=0.217 |
The Genome Aggregation Database | African | Sub | 8710 | C=0.871 | T=0.129 |
The Genome Aggregation Database | American | Sub | 838 | C=0.710 | T=0.290 |
The Genome Aggregation Database | East Asian | Sub | 1616 | C=0.480 | T=0.520 |
The Genome Aggregation Database | Europe | Sub | 18474 | C=0.778 | T=0.221 |
The Genome Aggregation Database | Global | Study-wide | 29940 | C=0.787 | T=0.212 |
The Genome Aggregation Database | Other | Sub | 302 | C=0.770 | T=0.230 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | C=0.816 | T=0.183 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.778 | T=0.222 |
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 |
---|---|---|---|
rs12591074 | 7.4E-05 | 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 ) |
---|---|---|---|---|
chr15 | 81109008 | 81109068 | E067 | -28798 |
chr15 | 81112226 | 81112323 | E067 | -25543 |
chr15 | 81120991 | 81121663 | E067 | -16203 |
chr15 | 81136174 | 81136218 | E067 | -1648 |
chr15 | 81136379 | 81137091 | E067 | -775 |
chr15 | 81145276 | 81145396 | E067 | 7410 |
chr15 | 81163976 | 81164026 | E067 | 26110 |
chr15 | 81164056 | 81164392 | E067 | 26190 |
chr15 | 81164426 | 81164512 | E067 | 26560 |
chr15 | 81164589 | 81164667 | E067 | 26723 |
chr15 | 81167750 | 81168358 | E067 | 29884 |
chr15 | 81168392 | 81168708 | E067 | 30526 |
chr15 | 81168856 | 81169187 | E067 | 30990 |
chr15 | 81111171 | 81111221 | E068 | -26645 |
chr15 | 81111245 | 81111300 | E068 | -26566 |
chr15 | 81111327 | 81111478 | E068 | -26388 |
chr15 | 81111556 | 81111810 | E068 | -26056 |
chr15 | 81117257 | 81117346 | E068 | -20520 |
chr15 | 81117476 | 81117526 | E068 | -20340 |
chr15 | 81117540 | 81117597 | E068 | -20269 |
chr15 | 81117760 | 81117820 | E068 | -20046 |
chr15 | 81117872 | 81117963 | E068 | -19903 |
chr15 | 81118037 | 81118297 | E068 | -19569 |
chr15 | 81118364 | 81118480 | E068 | -19386 |
chr15 | 81136174 | 81136218 | E068 | -1648 |
chr15 | 81136379 | 81137091 | E068 | -775 |
chr15 | 81148803 | 81149021 | E068 | 10937 |
chr15 | 81149046 | 81150004 | E068 | 11180 |
chr15 | 81150147 | 81150197 | E068 | 12281 |
chr15 | 81150256 | 81150341 | E068 | 12390 |
chr15 | 81150391 | 81150494 | E068 | 12525 |
chr15 | 81151087 | 81151260 | E068 | 13221 |
chr15 | 81151386 | 81151436 | E068 | 13520 |
chr15 | 81151443 | 81151493 | E068 | 13577 |
chr15 | 81164426 | 81164512 | E068 | 26560 |
chr15 | 81164589 | 81164667 | E068 | 26723 |
chr15 | 81167750 | 81168358 | E068 | 29884 |
chr15 | 81168392 | 81168708 | E068 | 30526 |
chr15 | 81168856 | 81169187 | E068 | 30990 |
chr15 | 81170668 | 81171046 | E068 | 32802 |
chr15 | 81171208 | 81171419 | E068 | 33342 |
chr15 | 81171455 | 81171658 | E068 | 33589 |
chr15 | 81172159 | 81172209 | E068 | 34293 |
chr15 | 81172237 | 81172322 | E068 | 34371 |
chr15 | 81172409 | 81172957 | E068 | 34543 |
chr15 | 81111171 | 81111221 | E069 | -26645 |
chr15 | 81111245 | 81111300 | E069 | -26566 |
chr15 | 81111327 | 81111478 | E069 | -26388 |
chr15 | 81111556 | 81111810 | E069 | -26056 |
chr15 | 81127297 | 81127572 | E069 | -10294 |
chr15 | 81127582 | 81128071 | E069 | -9795 |
chr15 | 81131311 | 81131395 | E069 | -6471 |
chr15 | 81131945 | 81132018 | E069 | -5848 |
chr15 | 81132224 | 81132312 | E069 | -5554 |
chr15 | 81132502 | 81132575 | E069 | -5291 |
chr15 | 81136174 | 81136218 | E069 | -1648 |
chr15 | 81136379 | 81137091 | E069 | -775 |
chr15 | 81149046 | 81150004 | E069 | 11180 |
chr15 | 81150147 | 81150197 | E069 | 12281 |
chr15 | 81163976 | 81164026 | E069 | 26110 |
chr15 | 81164056 | 81164392 | E069 | 26190 |
chr15 | 81164426 | 81164512 | E069 | 26560 |
chr15 | 81164589 | 81164667 | E069 | 26723 |
chr15 | 81165771 | 81166353 | E069 | 27905 |
chr15 | 81166375 | 81166582 | E069 | 28509 |
chr15 | 81167750 | 81168358 | E069 | 29884 |
chr15 | 81168392 | 81168708 | E069 | 30526 |
chr15 | 81170668 | 81171046 | E069 | 32802 |
chr15 | 81171208 | 81171419 | E069 | 33342 |
chr15 | 81118037 | 81118297 | E070 | -19569 |
chr15 | 81118364 | 81118480 | E070 | -19386 |
chr15 | 81118575 | 81118715 | E070 | -19151 |
chr15 | 81149046 | 81150004 | E070 | 11180 |
chr15 | 81117476 | 81117526 | E071 | -20340 |
chr15 | 81117540 | 81117597 | E071 | -20269 |
chr15 | 81117760 | 81117820 | E071 | -20046 |
chr15 | 81118037 | 81118297 | E071 | -19569 |
chr15 | 81127582 | 81128071 | E071 | -9795 |
chr15 | 81131945 | 81132018 | E071 | -5848 |
chr15 | 81149046 | 81150004 | E071 | 11180 |
chr15 | 81153934 | 81154028 | E071 | 16068 |
chr15 | 81154040 | 81154587 | E071 | 16174 |
chr15 | 81154619 | 81154763 | E071 | 16753 |
chr15 | 81163236 | 81163679 | E071 | 25370 |
chr15 | 81163726 | 81163848 | E071 | 25860 |
chr15 | 81163886 | 81163952 | E071 | 26020 |
chr15 | 81163976 | 81164026 | E071 | 26110 |
chr15 | 81167750 | 81168358 | E071 | 29884 |
chr15 | 81168392 | 81168708 | E071 | 30526 |
chr15 | 81168856 | 81169187 | E071 | 30990 |
chr15 | 81169377 | 81169478 | E071 | 31511 |
chr15 | 81169602 | 81169674 | E071 | 31736 |
chr15 | 81169784 | 81169834 | E071 | 31918 |
chr15 | 81170018 | 81170145 | E071 | 32152 |
chr15 | 81179568 | 81179792 | E071 | 41702 |
chr15 | 81179931 | 81180141 | E071 | 42065 |
chr15 | 81111245 | 81111300 | E072 | -26566 |
chr15 | 81111327 | 81111478 | E072 | -26388 |
chr15 | 81112226 | 81112323 | E072 | -25543 |
chr15 | 81112507 | 81112704 | E072 | -25162 |
chr15 | 81117476 | 81117526 | E072 | -20340 |
chr15 | 81117540 | 81117597 | E072 | -20269 |
chr15 | 81131405 | 81131786 | E072 | -6080 |
chr15 | 81131945 | 81132018 | E072 | -5848 |
chr15 | 81148593 | 81148715 | E072 | 10727 |
chr15 | 81148803 | 81149021 | E072 | 10937 |
chr15 | 81149046 | 81150004 | E072 | 11180 |
chr15 | 81150147 | 81150197 | E072 | 12281 |
chr15 | 81163976 | 81164026 | E072 | 26110 |
chr15 | 81164056 | 81164392 | E072 | 26190 |
chr15 | 81164426 | 81164512 | E072 | 26560 |
chr15 | 81164589 | 81164667 | E072 | 26723 |
chr15 | 81165771 | 81166353 | E072 | 27905 |
chr15 | 81166375 | 81166582 | E072 | 28509 |
chr15 | 81167750 | 81168358 | E072 | 29884 |
chr15 | 81168392 | 81168708 | E072 | 30526 |
chr15 | 81168856 | 81169187 | E072 | 30990 |
chr15 | 81099971 | 81100018 | E073 | -37848 |
chr15 | 81100063 | 81100130 | E073 | -37736 |
chr15 | 81100362 | 81100412 | E073 | -37454 |
chr15 | 81100473 | 81100592 | E073 | -37274 |
chr15 | 81111171 | 81111221 | E073 | -26645 |
chr15 | 81111245 | 81111300 | E073 | -26566 |
chr15 | 81111327 | 81111478 | E073 | -26388 |
chr15 | 81111556 | 81111810 | E073 | -26056 |
chr15 | 81115809 | 81115859 | E073 | -22007 |
chr15 | 81122561 | 81122893 | E073 | -14973 |
chr15 | 81123113 | 81123243 | E073 | -14623 |
chr15 | 81123301 | 81123351 | E073 | -14515 |
chr15 | 81123775 | 81123886 | E073 | -13980 |
chr15 | 81123947 | 81124111 | E073 | -13755 |
chr15 | 81124182 | 81124528 | E073 | -13338 |
chr15 | 81124568 | 81124726 | E073 | -13140 |
chr15 | 81124818 | 81125480 | E073 | -12386 |
chr15 | 81127582 | 81128071 | E073 | -9795 |
chr15 | 81132502 | 81132575 | E073 | -5291 |
chr15 | 81132619 | 81132855 | E073 | -5011 |
chr15 | 81133010 | 81133060 | E073 | -4806 |
chr15 | 81133097 | 81133147 | E073 | -4719 |
chr15 | 81133153 | 81133340 | E073 | -4526 |
chr15 | 81133361 | 81133477 | E073 | -4389 |
chr15 | 81133746 | 81133796 | E073 | -4070 |
chr15 | 81136174 | 81136218 | E073 | -1648 |
chr15 | 81136379 | 81137091 | E073 | -775 |
chr15 | 81145747 | 81145807 | E073 | 7881 |
chr15 | 81145902 | 81145978 | E073 | 8036 |
chr15 | 81146352 | 81146862 | E073 | 8486 |
chr15 | 81149046 | 81150004 | E073 | 11180 |
chr15 | 81150147 | 81150197 | E073 | 12281 |
chr15 | 81150256 | 81150341 | E073 | 12390 |
chr15 | 81150391 | 81150494 | E073 | 12525 |
chr15 | 81163976 | 81164026 | E073 | 26110 |
chr15 | 81164056 | 81164392 | E073 | 26190 |
chr15 | 81165771 | 81166353 | E073 | 27905 |
chr15 | 81166375 | 81166582 | E073 | 28509 |
chr15 | 81167750 | 81168358 | E073 | 29884 |
chr15 | 81168392 | 81168708 | E073 | 30526 |
chr15 | 81168856 | 81169187 | E073 | 30990 |
chr15 | 81170229 | 81170626 | E073 | 32363 |
chr15 | 81170668 | 81171046 | E073 | 32802 |
chr15 | 81117476 | 81117526 | E074 | -20340 |
chr15 | 81117540 | 81117597 | E074 | -20269 |
chr15 | 81117760 | 81117820 | E074 | -20046 |
chr15 | 81117872 | 81117963 | E074 | -19903 |
chr15 | 81118037 | 81118297 | E074 | -19569 |
chr15 | 81118364 | 81118480 | E074 | -19386 |
chr15 | 81124182 | 81124528 | E074 | -13338 |
chr15 | 81124568 | 81124726 | E074 | -13140 |
chr15 | 81131152 | 81131226 | E074 | -6640 |
chr15 | 81131311 | 81131395 | E074 | -6471 |
chr15 | 81131405 | 81131786 | E074 | -6080 |
chr15 | 81131945 | 81132018 | E074 | -5848 |
chr15 | 81146352 | 81146862 | E074 | 8486 |
chr15 | 81148803 | 81149021 | E074 | 10937 |
chr15 | 81149046 | 81150004 | E074 | 11180 |
chr15 | 81150147 | 81150197 | E074 | 12281 |
chr15 | 81150256 | 81150341 | E074 | 12390 |
chr15 | 81150391 | 81150494 | E074 | 12525 |
chr15 | 81163976 | 81164026 | E074 | 26110 |
chr15 | 81164056 | 81164392 | E074 | 26190 |
chr15 | 81164426 | 81164512 | E074 | 26560 |
chr15 | 81164589 | 81164667 | E074 | 26723 |
chr15 | 81168392 | 81168708 | E074 | 30526 |
chr15 | 81168856 | 81169187 | E074 | 30990 |
chr15 | 81171208 | 81171419 | E074 | 33342 |
chr15 | 81172067 | 81172157 | E074 | 34201 |
chr15 | 81172159 | 81172209 | E074 | 34293 |
chr15 | 81172237 | 81172322 | E074 | 34371 |
chr15 | 81104770 | 81104874 | E081 | -32992 |
chr15 | 81104907 | 81105199 | E081 | -32667 |
chr15 | 81105273 | 81105323 | E081 | -32543 |
chr15 | 81114371 | 81114435 | E081 | -23431 |
chr15 | 81114449 | 81114499 | E081 | -23367 |
chr15 | 81114562 | 81115788 | E081 | -22078 |
chr15 | 81115809 | 81115859 | E081 | -22007 |
chr15 | 81116124 | 81116265 | E081 | -21601 |
chr15 | 81116406 | 81116805 | E081 | -21061 |
chr15 | 81117257 | 81117346 | E081 | -20520 |
chr15 | 81117476 | 81117526 | E081 | -20340 |
chr15 | 81117540 | 81117597 | E081 | -20269 |
chr15 | 81117760 | 81117820 | E081 | -20046 |
chr15 | 81117872 | 81117963 | E081 | -19903 |
chr15 | 81118037 | 81118297 | E081 | -19569 |
chr15 | 81118364 | 81118480 | E081 | -19386 |
chr15 | 81118575 | 81118715 | E081 | -19151 |
chr15 | 81124182 | 81124528 | E081 | -13338 |
chr15 | 81124568 | 81124726 | E081 | -13140 |
chr15 | 81127582 | 81128071 | E081 | -9795 |
chr15 | 81128124 | 81128400 | E081 | -9466 |
chr15 | 81129133 | 81129235 | E081 | -8631 |
chr15 | 81129297 | 81129731 | E081 | -8135 |
chr15 | 81130274 | 81130355 | E081 | -7511 |
chr15 | 81145276 | 81145396 | E081 | 7410 |
chr15 | 81146352 | 81146862 | E081 | 8486 |
chr15 | 81147389 | 81147462 | E081 | 9523 |
chr15 | 81153934 | 81154028 | E081 | 16068 |
chr15 | 81154040 | 81154587 | E081 | 16174 |
chr15 | 81104907 | 81105199 | E082 | -32667 |
chr15 | 81105273 | 81105323 | E082 | -32543 |
chr15 | 81114371 | 81114435 | E082 | -23431 |
chr15 | 81114449 | 81114499 | E082 | -23367 |
chr15 | 81114562 | 81115788 | E082 | -22078 |
chr15 | 81115809 | 81115859 | E082 | -22007 |
chr15 | 81116124 | 81116265 | E082 | -21601 |
chr15 | 81128124 | 81128400 | E082 | -9466 |
chr15 | 81128479 | 81128816 | E082 | -9050 |
chr15 | 81128971 | 81129064 | E082 | -8802 |
chr15 | 81129133 | 81129235 | E082 | -8631 |
chr15 | 81129297 | 81129731 | E082 | -8135 |
chr15 | 81129791 | 81129841 | E082 | -8025 |
chr15 | 81129896 | 81130013 | E082 | -7853 |
chr15 | 81130274 | 81130355 | E082 | -7511 |
chr15 | 81146352 | 81146862 | E082 | 8486 |