| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 12 | NC_000012.12:g.12205590C>A |
| LRP6 RefSeqGene | NG_016168.1:g.66288G>T |
| GRCh38.p7 chr 12 fix patch HG1362_PATCH | NW_011332696.1:g.174588C>A |
| GRCh37.p13 chr 12 | NC_000012.11:g.12358524C>A |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| LRP6 transcript | NM_002336.2:c. | N/A | Intron Variant |
| LRP6 transcript variant X1 | XM_006719078.3:c. | N/A | Intron Variant |
| LRP6 transcript variant X3 | XM_011520671.2:c. | N/A | Intron Variant |
| LRP6 transcript variant X4 | XM_017019304.1:c. | N/A | Genic Upstream Transcript Variant |
| LRP6 transcript variant X2 | XR_429035.2:n. | N/A | Intron Variant |
| Study | Population | Group | Sample # | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| 1000Genomes | African | Sub | 1322 | C=0.881 | A=0.119 |
| 1000Genomes | American | Sub | 694 | C=0.850 | A=0.150 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.998 | A=0.002 |
| 1000Genomes | Europe | Sub | 1006 | C=0.918 | A=0.082 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.924 | A=0.076 |
| 1000Genomes | South Asian | Sub | 978 | C=0.970 | A=0.030 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.908 | A=0.092 |
| The Genome Aggregation Database | African | Sub | 8720 | C=0.877 | A=0.123 |
| The Genome Aggregation Database | American | Sub | 834 | C=0.840 | A=0.160 |
| The Genome Aggregation Database | East Asian | Sub | 1622 | C=1.000 | A=0.000 |
| The Genome Aggregation Database | Europe | Sub | 18478 | C=0.914 | A=0.085 |
| The Genome Aggregation Database | Global | Study-wide | 29956 | C=0.906 | A=0.093 |
| The Genome Aggregation Database | Other | Sub | 302 | C=0.920 | A=0.080 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | C=0.894 | A=0.105 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.911 | A=0.089 |
| PMID | Title | Author | Journal |
|---|---|---|---|
| 21314694 | Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample. | Kendler KS | Alcohol Clin Exp Res |
| SNP ID | p-value | Traits | Study |
|---|---|---|---|
| rs12307111 | 0.000425 | alcohol dependence | 21314694 |
| 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 | 12317299 | 12317436 | E067 | -41088 |
| chr12 | 12317534 | 12317660 | E067 | -40864 |
| chr12 | 12324991 | 12325529 | E067 | -32995 |
| chr12 | 12331563 | 12331940 | E067 | -26584 |
| chr12 | 12335635 | 12336383 | E067 | -22141 |
| chr12 | 12343419 | 12343511 | E067 | -15013 |
| chr12 | 12343611 | 12343863 | E067 | -14661 |
| chr12 | 12343991 | 12344111 | E067 | -14413 |
| chr12 | 12361986 | 12362150 | E067 | 3462 |
| chr12 | 12367505 | 12368199 | E067 | 8981 |
| chr12 | 12369236 | 12369329 | E067 | 10712 |
| chr12 | 12369365 | 12369546 | E067 | 10841 |
| chr12 | 12369634 | 12369678 | E067 | 11110 |
| chr12 | 12369753 | 12369979 | E067 | 11229 |
| chr12 | 12369983 | 12370214 | E067 | 11459 |
| chr12 | 12370219 | 12370310 | E067 | 11695 |
| chr12 | 12374354 | 12374422 | E067 | 15830 |
| chr12 | 12374577 | 12374766 | E067 | 16053 |
| chr12 | 12380602 | 12380704 | E067 | 22078 |
| chr12 | 12382539 | 12382971 | E067 | 24015 |
| chr12 | 12383047 | 12383241 | E067 | 24523 |
| chr12 | 12384145 | 12384333 | E067 | 25621 |
| chr12 | 12384529 | 12384589 | E067 | 26005 |
| chr12 | 12384636 | 12384843 | E067 | 26112 |
| chr12 | 12384979 | 12385019 | E067 | 26455 |
| chr12 | 12391993 | 12392158 | E067 | 33469 |
| chr12 | 12392290 | 12392337 | E067 | 33766 |
| chr12 | 12393602 | 12393652 | E067 | 35078 |
| chr12 | 12393655 | 12394465 | E067 | 35131 |
| chr12 | 12394480 | 12394639 | E067 | 35956 |
| chr12 | 12394670 | 12394724 | E067 | 36146 |
| chr12 | 12394928 | 12395020 | E067 | 36404 |
| chr12 | 12395096 | 12395197 | E067 | 36572 |
| chr12 | 12397895 | 12397945 | E067 | 39371 |
| chr12 | 12397959 | 12398340 | E067 | 39435 |
| chr12 | 12400000 | 12400067 | E067 | 41476 |
| chr12 | 12400095 | 12400135 | E067 | 41571 |
| chr12 | 12317299 | 12317436 | E068 | -41088 |
| chr12 | 12317534 | 12317660 | E068 | -40864 |
| chr12 | 12318008 | 12318272 | E068 | -40252 |
| chr12 | 12318416 | 12318507 | E068 | -40017 |
| chr12 | 12318635 | 12318695 | E068 | -39829 |
| chr12 | 12324760 | 12324950 | E068 | -33574 |
| chr12 | 12324991 | 12325529 | E068 | -32995 |
| chr12 | 12331435 | 12331519 | E068 | -27005 |
| chr12 | 12331563 | 12331940 | E068 | -26584 |
| chr12 | 12333655 | 12333781 | E068 | -24743 |
| chr12 | 12334216 | 12334260 | E068 | -24264 |
| chr12 | 12334334 | 12334416 | E068 | -24108 |
| chr12 | 12334525 | 12335036 | E068 | -23488 |
| chr12 | 12335635 | 12336383 | E068 | -22141 |
| chr12 | 12353027 | 12353326 | E068 | -5198 |
| chr12 | 12353458 | 12353553 | E068 | -4971 |
| chr12 | 12353591 | 12353700 | E068 | -4824 |
| chr12 | 12367505 | 12368199 | E068 | 8981 |
| chr12 | 12369753 | 12369979 | E068 | 11229 |
| chr12 | 12369983 | 12370214 | E068 | 11459 |
| chr12 | 12370219 | 12370310 | E068 | 11695 |
| chr12 | 12371128 | 12371197 | E068 | 12604 |
| chr12 | 12377137 | 12377205 | E068 | 18613 |
| chr12 | 12377283 | 12377446 | E068 | 18759 |
| chr12 | 12384145 | 12384333 | E068 | 25621 |
| chr12 | 12384529 | 12384589 | E068 | 26005 |
| chr12 | 12384636 | 12384843 | E068 | 26112 |
| chr12 | 12384979 | 12385019 | E068 | 26455 |
| chr12 | 12385211 | 12385261 | E068 | 26687 |
| chr12 | 12385498 | 12385542 | E068 | 26974 |
| chr12 | 12385591 | 12385635 | E068 | 27067 |
| chr12 | 12385773 | 12385837 | E068 | 27249 |
| chr12 | 12389960 | 12390091 | E068 | 31436 |
| chr12 | 12390111 | 12390175 | E068 | 31587 |
| chr12 | 12390673 | 12390744 | E068 | 32149 |
| chr12 | 12392290 | 12392337 | E068 | 33766 |
| chr12 | 12392520 | 12392570 | E068 | 33996 |
| chr12 | 12393655 | 12394465 | E068 | 35131 |
| chr12 | 12394480 | 12394639 | E068 | 35956 |
| chr12 | 12394670 | 12394724 | E068 | 36146 |
| chr12 | 12316837 | 12316887 | E069 | -41637 |
| chr12 | 12317299 | 12317436 | E069 | -41088 |
| chr12 | 12317534 | 12317660 | E069 | -40864 |
| chr12 | 12324991 | 12325529 | E069 | -32995 |
| chr12 | 12335635 | 12336383 | E069 | -22141 |
| chr12 | 12343611 | 12343863 | E069 | -14661 |
| chr12 | 12343991 | 12344111 | E069 | -14413 |
| chr12 | 12353027 | 12353326 | E069 | -5198 |
| chr12 | 12367505 | 12368199 | E069 | 8981 |
| chr12 | 12369753 | 12369979 | E069 | 11229 |
| chr12 | 12369983 | 12370214 | E069 | 11459 |
| chr12 | 12370219 | 12370310 | E069 | 11695 |
| chr12 | 12370702 | 12370879 | E069 | 12178 |
| chr12 | 12374577 | 12374766 | E069 | 16053 |
| chr12 | 12374894 | 12375090 | E069 | 16370 |
| chr12 | 12382539 | 12382971 | E069 | 24015 |
| chr12 | 12384145 | 12384333 | E069 | 25621 |
| chr12 | 12384529 | 12384589 | E069 | 26005 |
| chr12 | 12384636 | 12384843 | E069 | 26112 |
| chr12 | 12384979 | 12385019 | E069 | 26455 |
| chr12 | 12389494 | 12389544 | E069 | 30970 |
| chr12 | 12390673 | 12390744 | E069 | 32149 |
| chr12 | 12392929 | 12392979 | E069 | 34405 |
| chr12 | 12393046 | 12393171 | E069 | 34522 |
| chr12 | 12393179 | 12393229 | E069 | 34655 |
| chr12 | 12394928 | 12395020 | E069 | 36404 |
| chr12 | 12309076 | 12309126 | E070 | -49398 |
| chr12 | 12309180 | 12309273 | E070 | -49251 |
| chr12 | 12393655 | 12394465 | E070 | 35131 |
| chr12 | 12394480 | 12394639 | E070 | 35956 |
| chr12 | 12394670 | 12394724 | E070 | 36146 |
| chr12 | 12394928 | 12395020 | E070 | 36404 |
| chr12 | 12395096 | 12395197 | E070 | 36572 |
| chr12 | 12406779 | 12406819 | E070 | 48255 |
| chr12 | 12407303 | 12407358 | E070 | 48779 |
| chr12 | 12407980 | 12408263 | E070 | 49456 |
| chr12 | 12408288 | 12408346 | E070 | 49764 |
| chr12 | 12317299 | 12317436 | E071 | -41088 |
| chr12 | 12317534 | 12317660 | E071 | -40864 |
| chr12 | 12318008 | 12318272 | E071 | -40252 |
| chr12 | 12324991 | 12325529 | E071 | -32995 |
| chr12 | 12325635 | 12325685 | E071 | -32839 |
| chr12 | 12326320 | 12326382 | E071 | -32142 |
| chr12 | 12329271 | 12329403 | E071 | -29121 |
| chr12 | 12334525 | 12335036 | E071 | -23488 |
| chr12 | 12335635 | 12336383 | E071 | -22141 |
| chr12 | 12336446 | 12336519 | E071 | -22005 |
| chr12 | 12336762 | 12336802 | E071 | -21722 |
| chr12 | 12343419 | 12343511 | E071 | -15013 |
| chr12 | 12343611 | 12343863 | E071 | -14661 |
| chr12 | 12343991 | 12344111 | E071 | -14413 |
| chr12 | 12353027 | 12353326 | E071 | -5198 |
| chr12 | 12367255 | 12367465 | E071 | 8731 |
| chr12 | 12367505 | 12368199 | E071 | 8981 |
| chr12 | 12369236 | 12369329 | E071 | 10712 |
| chr12 | 12369365 | 12369546 | E071 | 10841 |
| chr12 | 12369634 | 12369678 | E071 | 11110 |
| chr12 | 12369753 | 12369979 | E071 | 11229 |
| chr12 | 12369983 | 12370214 | E071 | 11459 |
| chr12 | 12370219 | 12370310 | E071 | 11695 |
| chr12 | 12370702 | 12370879 | E071 | 12178 |
| chr12 | 12372744 | 12372925 | E071 | 14220 |
| chr12 | 12373261 | 12373324 | E071 | 14737 |
| chr12 | 12373970 | 12374020 | E071 | 15446 |
| chr12 | 12374354 | 12374422 | E071 | 15830 |
| chr12 | 12374577 | 12374766 | E071 | 16053 |
| chr12 | 12380947 | 12381062 | E071 | 22423 |
| chr12 | 12381338 | 12381640 | E071 | 22814 |
| chr12 | 12381688 | 12381905 | E071 | 23164 |
| chr12 | 12382229 | 12382279 | E071 | 23705 |
| chr12 | 12382539 | 12382971 | E071 | 24015 |
| chr12 | 12384529 | 12384589 | E071 | 26005 |
| chr12 | 12384636 | 12384843 | E071 | 26112 |
| chr12 | 12384979 | 12385019 | E071 | 26455 |
| chr12 | 12394480 | 12394639 | E071 | 35956 |
| chr12 | 12394670 | 12394724 | E071 | 36146 |
| chr12 | 12397959 | 12398340 | E071 | 39435 |
| chr12 | 12400000 | 12400067 | E071 | 41476 |
| chr12 | 12400095 | 12400135 | E071 | 41571 |
| chr12 | 12400275 | 12400454 | E071 | 41751 |
| chr12 | 12400561 | 12400622 | E071 | 42037 |
| chr12 | 12400658 | 12400844 | E071 | 42134 |
| chr12 | 12408288 | 12408346 | E071 | 49764 |
| chr12 | 12335635 | 12336383 | E072 | -22141 |
| chr12 | 12343611 | 12343863 | E072 | -14661 |
| chr12 | 12343991 | 12344111 | E072 | -14413 |
| chr12 | 12344338 | 12344388 | E072 | -14136 |
| chr12 | 12367255 | 12367465 | E072 | 8731 |
| chr12 | 12369365 | 12369546 | E072 | 10841 |
| chr12 | 12369634 | 12369678 | E072 | 11110 |
| chr12 | 12369753 | 12369979 | E072 | 11229 |
| chr12 | 12369983 | 12370214 | E072 | 11459 |
| chr12 | 12370219 | 12370310 | E072 | 11695 |
| chr12 | 12370702 | 12370879 | E072 | 12178 |
| chr12 | 12381338 | 12381640 | E072 | 22814 |
| chr12 | 12381688 | 12381905 | E072 | 23164 |
| chr12 | 12382229 | 12382279 | E072 | 23705 |
| chr12 | 12382539 | 12382971 | E072 | 24015 |
| chr12 | 12393602 | 12393652 | E072 | 35078 |
| chr12 | 12393655 | 12394465 | E072 | 35131 |
| chr12 | 12394480 | 12394639 | E072 | 35956 |
| chr12 | 12394670 | 12394724 | E072 | 36146 |
| chr12 | 12394928 | 12395020 | E072 | 36404 |
| chr12 | 12395096 | 12395197 | E072 | 36572 |
| chr12 | 12397959 | 12398340 | E072 | 39435 |
| chr12 | 12335635 | 12336383 | E073 | -22141 |
| chr12 | 12381338 | 12381640 | E073 | 22814 |
| chr12 | 12381688 | 12381905 | E073 | 23164 |
| chr12 | 12384145 | 12384333 | E073 | 25621 |
| chr12 | 12384529 | 12384589 | E073 | 26005 |
| chr12 | 12384636 | 12384843 | E073 | 26112 |
| chr12 | 12384979 | 12385019 | E073 | 26455 |
| chr12 | 12400000 | 12400067 | E073 | 41476 |
| chr12 | 12400095 | 12400135 | E073 | 41571 |
| chr12 | 12400275 | 12400454 | E073 | 41751 |
| chr12 | 12400561 | 12400622 | E073 | 42037 |
| chr12 | 12400658 | 12400844 | E073 | 42134 |
| chr12 | 12317534 | 12317660 | E074 | -40864 |
| chr12 | 12318008 | 12318272 | E074 | -40252 |
| chr12 | 12334216 | 12334260 | E074 | -24264 |
| chr12 | 12334334 | 12334416 | E074 | -24108 |
| chr12 | 12334525 | 12335036 | E074 | -23488 |
| chr12 | 12335635 | 12336383 | E074 | -22141 |
| chr12 | 12343117 | 12343293 | E074 | -15231 |
| chr12 | 12343419 | 12343511 | E074 | -15013 |
| chr12 | 12343611 | 12343863 | E074 | -14661 |
| chr12 | 12343991 | 12344111 | E074 | -14413 |
| chr12 | 12367255 | 12367465 | E074 | 8731 |
| chr12 | 12367505 | 12368199 | E074 | 8981 |
| chr12 | 12369753 | 12369979 | E074 | 11229 |
| chr12 | 12369983 | 12370214 | E074 | 11459 |
| chr12 | 12370219 | 12370310 | E074 | 11695 |
| chr12 | 12370702 | 12370879 | E074 | 12178 |
| chr12 | 12392290 | 12392337 | E074 | 33766 |
| chr12 | 12392520 | 12392570 | E074 | 33996 |
| chr12 | 12394480 | 12394639 | E074 | 35956 |
| chr12 | 12394670 | 12394724 | E074 | 36146 |
| chr12 | 12394928 | 12395020 | E074 | 36404 |
| chr12 | 12395096 | 12395197 | E074 | 36572 |
| chr12 | 12397895 | 12397945 | E074 | 39371 |
| chr12 | 12317534 | 12317660 | E081 | -40864 |
| chr12 | 12330871 | 12330958 | E081 | -27566 |
| chr12 | 12335635 | 12336383 | E081 | -22141 |
| chr12 | 12336446 | 12336519 | E081 | -22005 |
| chr12 | 12336762 | 12336802 | E081 | -21722 |
| chr12 | 12338152 | 12338645 | E081 | -19879 |
| chr12 | 12339717 | 12340015 | E081 | -18509 |
| chr12 | 12340296 | 12340448 | E081 | -18076 |
| chr12 | 12340564 | 12340631 | E081 | -17893 |
| chr12 | 12382229 | 12382279 | E081 | 23705 |
| chr12 | 12382539 | 12382971 | E081 | 24015 |
| chr12 | 12383047 | 12383241 | E081 | 24523 |
| chr12 | 12383353 | 12383517 | E081 | 24829 |
| chr12 | 12394480 | 12394639 | E081 | 35956 |
| chr12 | 12394670 | 12394724 | E081 | 36146 |
| chr12 | 12394928 | 12395020 | E081 | 36404 |
| chr12 | 12395096 | 12395197 | E081 | 36572 |
| chr12 | 12325635 | 12325685 | E082 | -32839 |
| chr12 | 12335635 | 12336383 | E082 | -22141 |
| chr12 | 12336446 | 12336519 | E082 | -22005 |
| chr12 | 12336762 | 12336802 | E082 | -21722 |
| chr12 | 12338152 | 12338645 | E082 | -19879 |
| chr12 | 12381338 | 12381640 | E082 | 22814 |
| chr12 | 12381688 | 12381905 | E082 | 23164 |
| chr12 | 12382229 | 12382279 | E082 | 23705 |
| chr12 | 12382539 | 12382971 | E082 | 24015 |
| chr12 | 12383047 | 12383241 | E082 | 24523 |
| chr12 | 12383353 | 12383517 | E082 | 24829 |
| chr12 | 12394928 | 12395020 | E082 | 36404 |
| chr12 | 12395096 | 12395197 | E082 | 36572 |
| Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
|---|---|---|---|---|
| chr12 | 12395399 | 12395490 | E067 | 36875 |
| chr12 | 12395594 | 12395644 | E067 | 37070 |
| chr12 | 12395692 | 12395839 | E067 | 37168 |
| chr12 | 12395885 | 12395965 | E067 | 37361 |
| chr12 | 12396049 | 12396107 | E067 | 37525 |
| chr12 | 12396778 | 12396828 | E067 | 38254 |
| chr12 | 12395399 | 12395490 | E068 | 36875 |
| chr12 | 12395594 | 12395644 | E068 | 37070 |
| chr12 | 12395692 | 12395839 | E068 | 37168 |
| chr12 | 12395885 | 12395965 | E068 | 37361 |
| chr12 | 12396049 | 12396107 | E068 | 37525 |
| chr12 | 12396778 | 12396828 | E068 | 38254 |
| chr12 | 12397449 | 12397558 | E068 | 38925 |
| chr12 | 12396778 | 12396828 | E069 | 38254 |
| chr12 | 12397449 | 12397558 | E069 | 38925 |
| chr12 | 12395399 | 12395490 | E071 | 36875 |
| chr12 | 12395594 | 12395644 | E071 | 37070 |
| chr12 | 12395692 | 12395839 | E071 | 37168 |
| chr12 | 12395885 | 12395965 | E071 | 37361 |
| chr12 | 12396049 | 12396107 | E071 | 37525 |
| chr12 | 12396778 | 12396828 | E071 | 38254 |
| chr12 | 12397449 | 12397558 | E071 | 38925 |
| chr12 | 12396778 | 12396828 | E072 | 38254 |
| chr12 | 12397449 | 12397558 | E072 | 38925 |
| chr12 | 12396778 | 12396828 | E073 | 38254 |
| chr12 | 12395399 | 12395490 | E074 | 36875 |
| chr12 | 12395594 | 12395644 | E074 | 37070 |
| chr12 | 12395692 | 12395839 | E074 | 37168 |
| chr12 | 12395885 | 12395965 | E074 | 37361 |
| chr12 | 12396049 | 12396107 | E074 | 37525 |
| chr12 | 12396778 | 12396828 | E074 | 38254 |
| chr12 | 12397449 | 12397558 | E074 | 38925 |