| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 12 | NC_000012.12:g.62774165C>T |
| GRCh37.p13 chr 12 | NC_000012.11:g.63167945C>T |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| PPM1H transcript | NM_020700.1:c. | N/A | Intron Variant |
| PPM1H transcript variant X1 | XM_011538578.2:c. | N/A | Intron Variant |
| PPM1H transcript variant X3 | XM_011538579.1:c. | N/A | Intron Variant |
| PPM1H transcript variant X2 | XM_017019676.1:c. | N/A | Intron Variant |
| Study | Population | Group | Sample # | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| 1000Genomes | African | Sub | 1322 | C=0.685 | T=0.315 |
| 1000Genomes | American | Sub | 694 | C=0.900 | T=0.100 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.909 | T=0.091 |
| 1000Genomes | Europe | Sub | 1006 | C=0.874 | T=0.126 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.819 | T=0.181 |
| 1000Genomes | South Asian | Sub | 978 | C=0.800 | T=0.200 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.862 | T=0.138 |
| The Genome Aggregation Database | African | Sub | 8706 | C=0.695 | T=0.305 |
| The Genome Aggregation Database | American | Sub | 838 | C=0.910 | T=0.090 |
| The Genome Aggregation Database | East Asian | Sub | 1620 | C=0.900 | T=0.100 |
| The Genome Aggregation Database | Europe | Sub | 18468 | C=0.863 | T=0.136 |
| The Genome Aggregation Database | Global | Study-wide | 29934 | C=0.817 | T=0.182 |
| The Genome Aggregation Database | Other | Sub | 302 | C=0.840 | T=0.160 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | C=0.791 | T=0.208 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.859 | T=0.141 |
| PMID | Title | Author | Journal |
|---|---|---|---|
| 21703634 | A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence. | Wang KS | J Psychiatr Res |
| SNP ID | p-value | Traits | Study |
|---|---|---|---|
| rs12303266 | 7.49E-05 | alcohol dependence | 21703634 |
| 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 | 63118064 | 63119317 | E067 | -48628 |
| chr12 | 63122345 | 63122513 | E067 | -45432 |
| chr12 | 63122560 | 63122702 | E067 | -45243 |
| chr12 | 63122726 | 63123003 | E067 | -44942 |
| chr12 | 63123020 | 63123279 | E067 | -44666 |
| chr12 | 63124459 | 63124760 | E067 | -43185 |
| chr12 | 63124834 | 63126358 | E067 | -41587 |
| chr12 | 63132846 | 63133892 | E067 | -34053 |
| chr12 | 63133973 | 63134125 | E067 | -33820 |
| chr12 | 63134242 | 63134362 | E067 | -33583 |
| chr12 | 63134967 | 63135370 | E067 | -32575 |
| chr12 | 63135761 | 63135811 | E067 | -32134 |
| chr12 | 63142417 | 63142732 | E067 | -25213 |
| chr12 | 63142943 | 63143025 | E067 | -24920 |
| chr12 | 63143165 | 63143455 | E067 | -24490 |
| chr12 | 63143477 | 63143527 | E067 | -24418 |
| chr12 | 63143724 | 63143774 | E067 | -24171 |
| chr12 | 63143951 | 63144039 | E067 | -23906 |
| chr12 | 63144293 | 63144338 | E067 | -23607 |
| chr12 | 63144580 | 63144770 | E067 | -23175 |
| chr12 | 63144776 | 63144874 | E067 | -23071 |
| chr12 | 63145039 | 63145268 | E067 | -22677 |
| chr12 | 63145420 | 63145617 | E067 | -22328 |
| chr12 | 63145668 | 63145835 | E067 | -22110 |
| chr12 | 63150509 | 63150615 | E067 | -17330 |
| chr12 | 63150660 | 63150807 | E067 | -17138 |
| chr12 | 63150842 | 63150896 | E067 | -17049 |
| chr12 | 63160438 | 63160609 | E067 | -7336 |
| chr12 | 63160887 | 63160994 | E067 | -6951 |
| chr12 | 63161032 | 63161183 | E067 | -6762 |
| chr12 | 63161227 | 63161297 | E067 | -6648 |
| chr12 | 63161306 | 63161583 | E067 | -6362 |
| chr12 | 63179389 | 63180412 | E067 | 11444 |
| chr12 | 63182114 | 63182208 | E067 | 14169 |
| chr12 | 63182419 | 63182557 | E067 | 14474 |
| chr12 | 63186786 | 63186966 | E067 | 18841 |
| chr12 | 63187041 | 63187173 | E067 | 19096 |
| chr12 | 63187360 | 63187505 | E067 | 19415 |
| chr12 | 63187516 | 63188137 | E067 | 19571 |
| chr12 | 63196882 | 63197069 | E067 | 28937 |
| chr12 | 63197255 | 63197305 | E067 | 29310 |
| chr12 | 63118064 | 63119317 | E068 | -48628 |
| chr12 | 63122345 | 63122513 | E068 | -45432 |
| chr12 | 63122560 | 63122702 | E068 | -45243 |
| chr12 | 63122726 | 63123003 | E068 | -44942 |
| chr12 | 63123020 | 63123279 | E068 | -44666 |
| chr12 | 63123298 | 63123657 | E068 | -44288 |
| chr12 | 63124020 | 63124287 | E068 | -43658 |
| chr12 | 63124300 | 63124449 | E068 | -43496 |
| chr12 | 63124459 | 63124760 | E068 | -43185 |
| chr12 | 63124834 | 63126358 | E068 | -41587 |
| chr12 | 63144776 | 63144874 | E068 | -23071 |
| chr12 | 63145039 | 63145268 | E068 | -22677 |
| chr12 | 63160887 | 63160994 | E068 | -6951 |
| chr12 | 63164357 | 63164532 | E068 | -3413 |
| chr12 | 63164546 | 63165420 | E068 | -2525 |
| chr12 | 63177681 | 63178178 | E068 | 9736 |
| chr12 | 63187360 | 63187505 | E068 | 19415 |
| chr12 | 63187516 | 63188137 | E068 | 19571 |
| chr12 | 63188229 | 63188560 | E068 | 20284 |
| chr12 | 63206338 | 63206420 | E068 | 38393 |
| chr12 | 63206513 | 63206559 | E068 | 38568 |
| chr12 | 63211312 | 63212421 | E068 | 43367 |
| chr12 | 63122011 | 63122071 | E069 | -45874 |
| chr12 | 63122345 | 63122513 | E069 | -45432 |
| chr12 | 63122560 | 63122702 | E069 | -45243 |
| chr12 | 63122726 | 63123003 | E069 | -44942 |
| chr12 | 63123020 | 63123279 | E069 | -44666 |
| chr12 | 63123298 | 63123657 | E069 | -44288 |
| chr12 | 63124020 | 63124287 | E069 | -43658 |
| chr12 | 63124300 | 63124449 | E069 | -43496 |
| chr12 | 63124459 | 63124760 | E069 | -43185 |
| chr12 | 63132235 | 63132792 | E069 | -35153 |
| chr12 | 63132846 | 63133892 | E069 | -34053 |
| chr12 | 63133973 | 63134125 | E069 | -33820 |
| chr12 | 63134242 | 63134362 | E069 | -33583 |
| chr12 | 63144580 | 63144770 | E069 | -23175 |
| chr12 | 63144776 | 63144874 | E069 | -23071 |
| chr12 | 63145039 | 63145268 | E069 | -22677 |
| chr12 | 63145420 | 63145617 | E069 | -22328 |
| chr12 | 63145668 | 63145835 | E069 | -22110 |
| chr12 | 63151554 | 63151608 | E069 | -16337 |
| chr12 | 63151694 | 63151928 | E069 | -16017 |
| chr12 | 63151952 | 63152382 | E069 | -15563 |
| chr12 | 63160438 | 63160609 | E069 | -7336 |
| chr12 | 63160887 | 63160994 | E069 | -6951 |
| chr12 | 63161032 | 63161183 | E069 | -6762 |
| chr12 | 63161227 | 63161297 | E069 | -6648 |
| chr12 | 63161306 | 63161583 | E069 | -6362 |
| chr12 | 63161853 | 63161950 | E069 | -5995 |
| chr12 | 63162067 | 63162117 | E069 | -5828 |
| chr12 | 63165572 | 63165774 | E069 | -2171 |
| chr12 | 63181950 | 63182070 | E069 | 14005 |
| chr12 | 63182114 | 63182208 | E069 | 14169 |
| chr12 | 63182419 | 63182557 | E069 | 14474 |
| chr12 | 63187041 | 63187173 | E069 | 19096 |
| chr12 | 63187360 | 63187505 | E069 | 19415 |
| chr12 | 63187516 | 63188137 | E069 | 19571 |
| chr12 | 63188229 | 63188560 | E069 | 20284 |
| chr12 | 63188573 | 63188623 | E069 | 20628 |
| chr12 | 63211312 | 63212421 | E069 | 43367 |
| chr12 | 63187516 | 63188137 | E070 | 19571 |
| chr12 | 63118064 | 63119317 | E071 | -48628 |
| chr12 | 63122560 | 63122702 | E071 | -45243 |
| chr12 | 63122726 | 63123003 | E071 | -44942 |
| chr12 | 63123020 | 63123279 | E071 | -44666 |
| chr12 | 63123298 | 63123657 | E071 | -44288 |
| chr12 | 63124459 | 63124760 | E071 | -43185 |
| chr12 | 63124834 | 63126358 | E071 | -41587 |
| chr12 | 63132846 | 63133892 | E071 | -34053 |
| chr12 | 63133973 | 63134125 | E071 | -33820 |
| chr12 | 63134242 | 63134362 | E071 | -33583 |
| chr12 | 63134456 | 63134550 | E071 | -33395 |
| chr12 | 63134689 | 63134739 | E071 | -33206 |
| chr12 | 63135761 | 63135811 | E071 | -32134 |
| chr12 | 63138397 | 63138741 | E071 | -29204 |
| chr12 | 63138872 | 63138932 | E071 | -29013 |
| chr12 | 63139170 | 63139405 | E071 | -28540 |
| chr12 | 63142943 | 63143025 | E071 | -24920 |
| chr12 | 63143165 | 63143455 | E071 | -24490 |
| chr12 | 63143477 | 63143527 | E071 | -24418 |
| chr12 | 63143724 | 63143774 | E071 | -24171 |
| chr12 | 63143951 | 63144039 | E071 | -23906 |
| chr12 | 63144293 | 63144338 | E071 | -23607 |
| chr12 | 63145039 | 63145268 | E071 | -22677 |
| chr12 | 63145420 | 63145617 | E071 | -22328 |
| chr12 | 63145668 | 63145835 | E071 | -22110 |
| chr12 | 63151694 | 63151928 | E071 | -16017 |
| chr12 | 63151952 | 63152382 | E071 | -15563 |
| chr12 | 63160438 | 63160609 | E071 | -7336 |
| chr12 | 63160887 | 63160994 | E071 | -6951 |
| chr12 | 63161032 | 63161183 | E071 | -6762 |
| chr12 | 63161227 | 63161297 | E071 | -6648 |
| chr12 | 63161306 | 63161583 | E071 | -6362 |
| chr12 | 63162964 | 63163056 | E071 | -4889 |
| chr12 | 63163148 | 63163250 | E071 | -4695 |
| chr12 | 63163270 | 63163449 | E071 | -4496 |
| chr12 | 63163518 | 63164207 | E071 | -3738 |
| chr12 | 63164357 | 63164532 | E071 | -3413 |
| chr12 | 63164546 | 63165420 | E071 | -2525 |
| chr12 | 63165572 | 63165774 | E071 | -2171 |
| chr12 | 63177681 | 63178178 | E071 | 9736 |
| chr12 | 63178433 | 63178755 | E071 | 10488 |
| chr12 | 63179389 | 63180412 | E071 | 11444 |
| chr12 | 63181492 | 63181719 | E071 | 13547 |
| chr12 | 63181734 | 63181837 | E071 | 13789 |
| chr12 | 63181950 | 63182070 | E071 | 14005 |
| chr12 | 63182114 | 63182208 | E071 | 14169 |
| chr12 | 63186786 | 63186966 | E071 | 18841 |
| chr12 | 63187041 | 63187173 | E071 | 19096 |
| chr12 | 63187360 | 63187505 | E071 | 19415 |
| chr12 | 63187516 | 63188137 | E071 | 19571 |
| chr12 | 63196882 | 63197069 | E071 | 28937 |
| chr12 | 63197255 | 63197305 | E071 | 29310 |
| chr12 | 63197721 | 63197771 | E071 | 29776 |
| chr12 | 63197807 | 63197912 | E071 | 29862 |
| chr12 | 63206338 | 63206420 | E071 | 38393 |
| chr12 | 63206513 | 63206559 | E071 | 38568 |
| chr12 | 63206747 | 63207305 | E071 | 38802 |
| chr12 | 63207327 | 63207583 | E071 | 39382 |
| chr12 | 63211215 | 63211259 | E071 | 43270 |
| chr12 | 63211312 | 63212421 | E071 | 43367 |
| chr12 | 63118064 | 63119317 | E072 | -48628 |
| chr12 | 63122011 | 63122071 | E072 | -45874 |
| chr12 | 63122345 | 63122513 | E072 | -45432 |
| chr12 | 63122560 | 63122702 | E072 | -45243 |
| chr12 | 63122726 | 63123003 | E072 | -44942 |
| chr12 | 63123020 | 63123279 | E072 | -44666 |
| chr12 | 63123298 | 63123657 | E072 | -44288 |
| chr12 | 63124020 | 63124287 | E072 | -43658 |
| chr12 | 63124834 | 63126358 | E072 | -41587 |
| chr12 | 63131420 | 63131701 | E072 | -36244 |
| chr12 | 63131937 | 63132199 | E072 | -35746 |
| chr12 | 63132235 | 63132792 | E072 | -35153 |
| chr12 | 63133973 | 63134125 | E072 | -33820 |
| chr12 | 63134242 | 63134362 | E072 | -33583 |
| chr12 | 63134456 | 63134550 | E072 | -33395 |
| chr12 | 63134689 | 63134739 | E072 | -33206 |
| chr12 | 63134967 | 63135370 | E072 | -32575 |
| chr12 | 63135761 | 63135811 | E072 | -32134 |
| chr12 | 63136065 | 63136162 | E072 | -31783 |
| chr12 | 63136293 | 63136343 | E072 | -31602 |
| chr12 | 63138397 | 63138741 | E072 | -29204 |
| chr12 | 63138872 | 63138932 | E072 | -29013 |
| chr12 | 63144580 | 63144770 | E072 | -23175 |
| chr12 | 63144776 | 63144874 | E072 | -23071 |
| chr12 | 63145039 | 63145268 | E072 | -22677 |
| chr12 | 63160438 | 63160609 | E072 | -7336 |
| chr12 | 63160887 | 63160994 | E072 | -6951 |
| chr12 | 63161032 | 63161183 | E072 | -6762 |
| chr12 | 63161227 | 63161297 | E072 | -6648 |
| chr12 | 63161306 | 63161583 | E072 | -6362 |
| chr12 | 63161853 | 63161950 | E072 | -5995 |
| chr12 | 63170482 | 63170536 | E072 | 2537 |
| chr12 | 63170553 | 63170656 | E072 | 2608 |
| chr12 | 63170717 | 63170855 | E072 | 2772 |
| chr12 | 63170887 | 63170996 | E072 | 2942 |
| chr12 | 63171053 | 63171148 | E072 | 3108 |
| chr12 | 63171188 | 63171271 | E072 | 3243 |
| chr12 | 63177681 | 63178178 | E072 | 9736 |
| chr12 | 63179389 | 63180412 | E072 | 11444 |
| chr12 | 63180489 | 63180624 | E072 | 12544 |
| chr12 | 63180719 | 63180791 | E072 | 12774 |
| chr12 | 63180825 | 63181239 | E072 | 12880 |
| chr12 | 63181265 | 63181372 | E072 | 13320 |
| chr12 | 63181734 | 63181837 | E072 | 13789 |
| chr12 | 63181950 | 63182070 | E072 | 14005 |
| chr12 | 63182114 | 63182208 | E072 | 14169 |
| chr12 | 63182419 | 63182557 | E072 | 14474 |
| chr12 | 63187360 | 63187505 | E072 | 19415 |
| chr12 | 63207327 | 63207583 | E072 | 39382 |
| chr12 | 63122345 | 63122513 | E073 | -45432 |
| chr12 | 63122560 | 63122702 | E073 | -45243 |
| chr12 | 63122726 | 63123003 | E073 | -44942 |
| chr12 | 63123020 | 63123279 | E073 | -44666 |
| chr12 | 63124834 | 63126358 | E073 | -41587 |
| chr12 | 63132846 | 63133892 | E073 | -34053 |
| chr12 | 63133973 | 63134125 | E073 | -33820 |
| chr12 | 63134242 | 63134362 | E073 | -33583 |
| chr12 | 63160438 | 63160609 | E073 | -7336 |
| chr12 | 63160887 | 63160994 | E073 | -6951 |
| chr12 | 63165572 | 63165774 | E073 | -2171 |
| chr12 | 63179389 | 63180412 | E073 | 11444 |
| chr12 | 63186786 | 63186966 | E073 | 18841 |
| chr12 | 63187041 | 63187173 | E073 | 19096 |
| chr12 | 63187360 | 63187505 | E073 | 19415 |
| chr12 | 63187516 | 63188137 | E073 | 19571 |
| chr12 | 63122345 | 63122513 | E074 | -45432 |
| chr12 | 63122560 | 63122702 | E074 | -45243 |
| chr12 | 63122726 | 63123003 | E074 | -44942 |
| chr12 | 63123020 | 63123279 | E074 | -44666 |
| chr12 | 63132235 | 63132792 | E074 | -35153 |
| chr12 | 63132846 | 63133892 | E074 | -34053 |
| chr12 | 63133973 | 63134125 | E074 | -33820 |
| chr12 | 63134242 | 63134362 | E074 | -33583 |
| chr12 | 63134456 | 63134550 | E074 | -33395 |
| chr12 | 63134689 | 63134739 | E074 | -33206 |
| chr12 | 63134967 | 63135370 | E074 | -32575 |
| chr12 | 63135761 | 63135811 | E074 | -32134 |
| chr12 | 63136065 | 63136162 | E074 | -31783 |
| chr12 | 63136293 | 63136343 | E074 | -31602 |
| chr12 | 63144580 | 63144770 | E074 | -23175 |
| chr12 | 63144776 | 63144874 | E074 | -23071 |
| chr12 | 63145039 | 63145268 | E074 | -22677 |
| chr12 | 63145420 | 63145617 | E074 | -22328 |
| chr12 | 63145668 | 63145835 | E074 | -22110 |
| chr12 | 63160887 | 63160994 | E074 | -6951 |
| chr12 | 63177681 | 63178178 | E074 | 9736 |
| chr12 | 63182114 | 63182208 | E074 | 14169 |
| chr12 | 63182419 | 63182557 | E074 | 14474 |
| chr12 | 63187360 | 63187505 | E074 | 19415 |
| chr12 | 63187516 | 63188137 | E074 | 19571 |
| chr12 | 63188229 | 63188560 | E074 | 20284 |
| chr12 | 63197255 | 63197305 | E074 | 29310 |
| chr12 | 63197721 | 63197771 | E074 | 29776 |
| chr12 | 63197807 | 63197912 | E074 | 29862 |
| chr12 | 63207327 | 63207583 | E074 | 39382 |
| chr12 | 63130480 | 63131283 | E081 | -36662 |
| chr12 | 63164546 | 63165420 | E081 | -2525 |
| chr12 | 63177681 | 63178178 | E081 | 9736 |
| chr12 | 63185783 | 63185877 | E081 | 17838 |
| chr12 | 63185965 | 63186148 | E081 | 18020 |
| chr12 | 63186155 | 63186660 | E081 | 18210 |
| chr12 | 63186786 | 63186966 | E081 | 18841 |
| chr12 | 63187041 | 63187173 | E081 | 19096 |
| chr12 | 63187360 | 63187505 | E081 | 19415 |
| chr12 | 63187516 | 63188137 | E081 | 19571 |
| chr12 | 63130015 | 63130076 | E082 | -37869 |
| chr12 | 63131420 | 63131701 | E082 | -36244 |
| chr12 | 63131937 | 63132199 | E082 | -35746 |
| chr12 | 63132235 | 63132792 | E082 | -35153 |
| chr12 | 63177681 | 63178178 | E082 | 9736 |
| chr12 | 63184924 | 63185022 | E082 | 16979 |
| chr12 | 63185316 | 63185388 | E082 | 17371 |