| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 12 | NC_000012.12:g.26383828T>C |
| GRCh37.p13 chr 12 | NC_000012.11:g.26536761T>C |
| ITPR2 RefSeqGene | NG_042142.1:g.454371A>G |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| ITPR2 transcript | NM_002223.3:c. | N/A | Intron Variant |
| ITPR2 transcript variant X1 | XM_017019266.1:c. | N/A | Intron Variant |
| ITPR2 transcript variant X2 | XM_017019267.1:c. | N/A | Intron Variant |
| ITPR2 transcript variant X3 | XM_017019268.1:c. | N/A | Intron Variant |
| ITPR2 transcript variant X6 | XM_017019269.1:c. | N/A | Genic Downstream Transcript Variant |
| ITPR2 transcript variant X4 | XR_001748686.1:n. | N/A | Genic Downstream Transcript Variant |
| ITPR2 transcript variant X4 | XR_001748687.1:n. | N/A | Genic Downstream Transcript Variant |
| Study | Population | Group | Sample # | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| 1000Genomes | African | Sub | 1322 | T=0.688 | C=0.312 |
| 1000Genomes | American | Sub | 694 | T=0.700 | C=0.300 |
| 1000Genomes | East Asian | Sub | 1008 | T=0.761 | C=0.239 |
| 1000Genomes | Europe | Sub | 1006 | T=0.644 | C=0.356 |
| 1000Genomes | Global | Study-wide | 5008 | T=0.705 | C=0.295 |
| 1000Genomes | South Asian | Sub | 978 | T=0.740 | C=0.260 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.641 | C=0.359 |
| The Genome Aggregation Database | African | Sub | 8668 | T=0.678 | C=0.322 |
| The Genome Aggregation Database | American | Sub | 834 | T=0.710 | C=0.290 |
| The Genome Aggregation Database | East Asian | Sub | 1610 | T=0.743 | C=0.257 |
| The Genome Aggregation Database | Europe | Sub | 18422 | T=0.646 | C=0.353 |
| The Genome Aggregation Database | Global | Study-wide | 29836 | T=0.662 | C=0.337 |
| The Genome Aggregation Database | Other | Sub | 302 | T=0.650 | C=0.350 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | T=0.672 | C=0.328 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.634 | C=0.366 |
| PMID | Title | Author | Journal |
|---|---|---|---|
| 20201924 | Genome-wide association study of alcohol dependence implicates a region on chromosome 11. | Edenberg HJ | Alcohol Clin Exp Res |
| SNP ID | p-value | Traits | Study |
|---|---|---|---|
| rs11614384 | 0.00032 | alcohol dependence | 20201924 |
| 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 | 26491883 | 26492004 | E067 | -44757 |
| chr12 | 26492053 | 26492489 | E067 | -44272 |
| chr12 | 26492498 | 26492684 | E067 | -44077 |
| chr12 | 26493050 | 26493527 | E067 | -43234 |
| chr12 | 26493536 | 26493967 | E067 | -42794 |
| chr12 | 26494325 | 26494473 | E067 | -42288 |
| chr12 | 26494752 | 26494868 | E067 | -41893 |
| chr12 | 26494873 | 26494923 | E067 | -41838 |
| chr12 | 26495019 | 26495199 | E067 | -41562 |
| chr12 | 26497283 | 26497333 | E067 | -39428 |
| chr12 | 26497420 | 26497550 | E067 | -39211 |
| chr12 | 26521983 | 26522033 | E067 | -14728 |
| chr12 | 26522401 | 26522483 | E067 | -14278 |
| chr12 | 26522544 | 26523209 | E067 | -13552 |
| chr12 | 26531484 | 26532132 | E067 | -4629 |
| chr12 | 26532145 | 26532290 | E067 | -4471 |
| chr12 | 26532560 | 26532610 | E067 | -4151 |
| chr12 | 26575835 | 26575885 | E067 | 39074 |
| chr12 | 26575950 | 26576078 | E067 | 39189 |
| chr12 | 26576150 | 26576377 | E067 | 39389 |
| chr12 | 26490962 | 26491034 | E068 | -45727 |
| chr12 | 26491075 | 26491269 | E068 | -45492 |
| chr12 | 26491391 | 26491471 | E068 | -45290 |
| chr12 | 26491664 | 26491761 | E068 | -45000 |
| chr12 | 26493050 | 26493527 | E068 | -43234 |
| chr12 | 26493536 | 26493967 | E068 | -42794 |
| chr12 | 26494166 | 26494210 | E068 | -42551 |
| chr12 | 26494325 | 26494473 | E068 | -42288 |
| chr12 | 26494752 | 26494868 | E068 | -41893 |
| chr12 | 26494873 | 26494923 | E068 | -41838 |
| chr12 | 26495019 | 26495199 | E068 | -41562 |
| chr12 | 26495301 | 26495380 | E068 | -41381 |
| chr12 | 26497283 | 26497333 | E068 | -39428 |
| chr12 | 26497420 | 26497550 | E068 | -39211 |
| chr12 | 26522401 | 26522483 | E068 | -14278 |
| chr12 | 26522544 | 26523209 | E068 | -13552 |
| chr12 | 26532560 | 26532610 | E068 | -4151 |
| chr12 | 26575835 | 26575885 | E068 | 39074 |
| chr12 | 26575950 | 26576078 | E068 | 39189 |
| chr12 | 26576150 | 26576377 | E068 | 39389 |
| chr12 | 26576874 | 26576948 | E068 | 40113 |
| chr12 | 26576964 | 26577041 | E068 | 40203 |
| chr12 | 26488714 | 26488789 | E069 | -47972 |
| chr12 | 26490962 | 26491034 | E069 | -45727 |
| chr12 | 26491075 | 26491269 | E069 | -45492 |
| chr12 | 26491391 | 26491471 | E069 | -45290 |
| chr12 | 26491664 | 26491761 | E069 | -45000 |
| chr12 | 26492498 | 26492684 | E069 | -44077 |
| chr12 | 26493050 | 26493527 | E069 | -43234 |
| chr12 | 26493536 | 26493967 | E069 | -42794 |
| chr12 | 26494166 | 26494210 | E069 | -42551 |
| chr12 | 26494325 | 26494473 | E069 | -42288 |
| chr12 | 26494752 | 26494868 | E069 | -41893 |
| chr12 | 26494873 | 26494923 | E069 | -41838 |
| chr12 | 26495019 | 26495199 | E069 | -41562 |
| chr12 | 26522544 | 26523209 | E069 | -13552 |
| chr12 | 26523223 | 26523308 | E069 | -13453 |
| chr12 | 26527923 | 26528557 | E069 | -8204 |
| chr12 | 26528683 | 26528801 | E069 | -7960 |
| chr12 | 26531484 | 26532132 | E069 | -4629 |
| chr12 | 26532145 | 26532290 | E069 | -4471 |
| chr12 | 26532560 | 26532610 | E069 | -4151 |
| chr12 | 26492053 | 26492489 | E070 | -44272 |
| chr12 | 26492498 | 26492684 | E070 | -44077 |
| chr12 | 26493050 | 26493527 | E070 | -43234 |
| chr12 | 26488888 | 26489032 | E071 | -47729 |
| chr12 | 26489132 | 26489176 | E071 | -47585 |
| chr12 | 26490780 | 26490848 | E071 | -45913 |
| chr12 | 26490962 | 26491034 | E071 | -45727 |
| chr12 | 26491075 | 26491269 | E071 | -45492 |
| chr12 | 26491391 | 26491471 | E071 | -45290 |
| chr12 | 26491664 | 26491761 | E071 | -45000 |
| chr12 | 26492053 | 26492489 | E071 | -44272 |
| chr12 | 26492498 | 26492684 | E071 | -44077 |
| chr12 | 26493050 | 26493527 | E071 | -43234 |
| chr12 | 26493536 | 26493967 | E071 | -42794 |
| chr12 | 26494166 | 26494210 | E071 | -42551 |
| chr12 | 26494325 | 26494473 | E071 | -42288 |
| chr12 | 26494752 | 26494868 | E071 | -41893 |
| chr12 | 26494873 | 26494923 | E071 | -41838 |
| chr12 | 26495019 | 26495199 | E071 | -41562 |
| chr12 | 26497283 | 26497333 | E071 | -39428 |
| chr12 | 26497420 | 26497550 | E071 | -39211 |
| chr12 | 26498202 | 26498252 | E071 | -38509 |
| chr12 | 26498542 | 26498833 | E071 | -37928 |
| chr12 | 26498892 | 26498975 | E071 | -37786 |
| chr12 | 26512176 | 26512226 | E071 | -24535 |
| chr12 | 26522544 | 26523209 | E071 | -13552 |
| chr12 | 26523223 | 26523308 | E071 | -13453 |
| chr12 | 26527557 | 26527662 | E071 | -9099 |
| chr12 | 26527743 | 26527874 | E071 | -8887 |
| chr12 | 26527923 | 26528557 | E071 | -8204 |
| chr12 | 26528683 | 26528801 | E071 | -7960 |
| chr12 | 26531484 | 26532132 | E071 | -4629 |
| chr12 | 26532145 | 26532290 | E071 | -4471 |
| chr12 | 26532560 | 26532610 | E071 | -4151 |
| chr12 | 26559405 | 26559520 | E071 | 22644 |
| chr12 | 26559728 | 26559786 | E071 | 22967 |
| chr12 | 26559974 | 26560055 | E071 | 23213 |
| chr12 | 26575835 | 26575885 | E071 | 39074 |
| chr12 | 26575950 | 26576078 | E071 | 39189 |
| chr12 | 26576150 | 26576377 | E071 | 39389 |
| chr12 | 26492498 | 26492684 | E072 | -44077 |
| chr12 | 26493050 | 26493527 | E072 | -43234 |
| chr12 | 26493536 | 26493967 | E072 | -42794 |
| chr12 | 26494166 | 26494210 | E072 | -42551 |
| chr12 | 26494325 | 26494473 | E072 | -42288 |
| chr12 | 26494752 | 26494868 | E072 | -41893 |
| chr12 | 26494873 | 26494923 | E072 | -41838 |
| chr12 | 26495019 | 26495199 | E072 | -41562 |
| chr12 | 26495301 | 26495380 | E072 | -41381 |
| chr12 | 26495402 | 26495475 | E072 | -41286 |
| chr12 | 26495842 | 26495923 | E072 | -40838 |
| chr12 | 26495959 | 26496150 | E072 | -40611 |
| chr12 | 26522544 | 26523209 | E072 | -13552 |
| chr12 | 26531484 | 26532132 | E072 | -4629 |
| chr12 | 26532145 | 26532290 | E072 | -4471 |
| chr12 | 26575950 | 26576078 | E072 | 39189 |
| chr12 | 26576150 | 26576377 | E072 | 39389 |
| chr12 | 26493050 | 26493527 | E073 | -43234 |
| chr12 | 26493536 | 26493967 | E073 | -42794 |
| chr12 | 26494166 | 26494210 | E073 | -42551 |
| chr12 | 26531484 | 26532132 | E073 | -4629 |
| chr12 | 26532145 | 26532290 | E073 | -4471 |
| chr12 | 26532560 | 26532610 | E073 | -4151 |
| chr12 | 26488435 | 26488523 | E074 | -48238 |
| chr12 | 26488714 | 26488789 | E074 | -47972 |
| chr12 | 26488888 | 26489032 | E074 | -47729 |
| chr12 | 26490780 | 26490848 | E074 | -45913 |
| chr12 | 26490962 | 26491034 | E074 | -45727 |
| chr12 | 26491075 | 26491269 | E074 | -45492 |
| chr12 | 26491391 | 26491471 | E074 | -45290 |
| chr12 | 26491664 | 26491761 | E074 | -45000 |
| chr12 | 26491883 | 26492004 | E074 | -44757 |
| chr12 | 26492053 | 26492489 | E074 | -44272 |
| chr12 | 26492498 | 26492684 | E074 | -44077 |
| chr12 | 26493050 | 26493527 | E074 | -43234 |
| chr12 | 26493536 | 26493967 | E074 | -42794 |
| chr12 | 26494166 | 26494210 | E074 | -42551 |
| chr12 | 26494325 | 26494473 | E074 | -42288 |
| chr12 | 26494752 | 26494868 | E074 | -41893 |
| chr12 | 26494873 | 26494923 | E074 | -41838 |
| chr12 | 26495019 | 26495199 | E074 | -41562 |
| chr12 | 26497283 | 26497333 | E074 | -39428 |
| chr12 | 26497420 | 26497550 | E074 | -39211 |
| chr12 | 26511849 | 26511927 | E074 | -24834 |
| chr12 | 26521983 | 26522033 | E074 | -14728 |
| chr12 | 26522401 | 26522483 | E074 | -14278 |
| chr12 | 26522544 | 26523209 | E074 | -13552 |
| chr12 | 26531484 | 26532132 | E074 | -4629 |
| chr12 | 26532145 | 26532290 | E074 | -4471 |
| chr12 | 26575835 | 26575885 | E074 | 39074 |
| chr12 | 26575950 | 26576078 | E074 | 39189 |
| chr12 | 26576150 | 26576377 | E074 | 39389 |
| chr12 | 26576874 | 26576948 | E074 | 40113 |
| chr12 | 26576964 | 26577041 | E074 | 40203 |
| chr12 | 26582054 | 26582223 | E074 | 45293 |
| chr12 | 26582378 | 26582450 | E074 | 45617 |