| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 12 | NC_000012.12:g.627548G>A |
| GRCh37.p13 chr 12 | NC_000012.11:g.736714G>A |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| NINJ2 transcript variant 3 | NM_001294346.1:c. | N/A | Intron Variant |
| NINJ2 transcript variant 1 | NM_016533.5:c. | N/A | Intron Variant |
| NINJ2 transcript variant 2 | NM_001294345.1:c. | N/A | Genic Upstream Transcript Variant |
| Study | Population | Group | Sample # | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| 1000Genomes | African | Sub | 1322 | G=0.298 | A=0.702 |
| 1000Genomes | American | Sub | 694 | G=0.170 | A=0.830 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.152 | A=0.848 |
| 1000Genomes | Europe | Sub | 1006 | G=0.188 | A=0.812 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.200 | A=0.800 |
| 1000Genomes | South Asian | Sub | 978 | G=0.150 | A=0.850 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.199 | A=0.801 |
| The Genome Aggregation Database | African | Sub | 8712 | G=0.291 | A=0.709 |
| The Genome Aggregation Database | American | Sub | 838 | G=0.120 | A=0.880 |
| The Genome Aggregation Database | East Asian | Sub | 1592 | G=0.171 | A=0.829 |
| The Genome Aggregation Database | Europe | Sub | 18488 | G=0.152 | A=0.847 |
| The Genome Aggregation Database | Global | Study-wide | 29932 | G=0.192 | A=0.807 |
| The Genome Aggregation Database | Other | Sub | 302 | G=0.100 | A=0.900 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.219 | A=0.780 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.195 | A=0.805 |
| PMID | Title | Author | Journal |
|---|---|---|---|
| 19268276 | Genome-wide association study of smoking initiation and current smoking. | Vink JM | Am J Hum Genet |
| SNP ID | p-value | Traits | Study |
|---|---|---|---|
| rs6489683 | 0.000927 | nicotine smoking | 19268276 |
| 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 | 687426 | 687611 | E067 | -49103 |
| chr12 | 687708 | 687870 | E067 | -48844 |
| chr12 | 687950 | 688577 | E067 | -48137 |
| chr12 | 688704 | 688908 | E067 | -47806 |
| chr12 | 699016 | 699077 | E067 | -37637 |
| chr12 | 699106 | 699157 | E067 | -37557 |
| chr12 | 700312 | 701516 | E067 | -35198 |
| chr12 | 716617 | 717348 | E067 | -19366 |
| chr12 | 717634 | 717723 | E067 | -18991 |
| chr12 | 723179 | 724219 | E067 | -12495 |
| chr12 | 728681 | 728833 | E067 | -7881 |
| chr12 | 728886 | 729043 | E067 | -7671 |
| chr12 | 729191 | 729301 | E067 | -7413 |
| chr12 | 729350 | 729409 | E067 | -7305 |
| chr12 | 729417 | 729457 | E067 | -7257 |
| chr12 | 729525 | 729596 | E067 | -7118 |
| chr12 | 753558 | 753690 | E067 | 16844 |
| chr12 | 753719 | 753776 | E067 | 17005 |
| chr12 | 753796 | 753868 | E067 | 17082 |
| chr12 | 753995 | 754522 | E067 | 17281 |
| chr12 | 754574 | 754683 | E067 | 17860 |
| chr12 | 754719 | 755372 | E067 | 18005 |
| chr12 | 755449 | 755567 | E067 | 18735 |
| chr12 | 755610 | 756190 | E067 | 18896 |
| chr12 | 756299 | 756533 | E067 | 19585 |
| chr12 | 756582 | 756911 | E067 | 19868 |
| chr12 | 768011 | 768163 | E067 | 31297 |
| chr12 | 768281 | 768560 | E067 | 31567 |
| chr12 | 768608 | 768732 | E067 | 31894 |
| chr12 | 768774 | 768840 | E067 | 32060 |
| chr12 | 769089 | 769162 | E067 | 32375 |
| chr12 | 773704 | 773744 | E067 | 36990 |
| chr12 | 774013 | 774137 | E067 | 37299 |
| chr12 | 774150 | 774191 | E067 | 37436 |
| chr12 | 776241 | 776402 | E067 | 39527 |
| chr12 | 776450 | 776877 | E067 | 39736 |
| chr12 | 781052 | 781689 | E067 | 44338 |
| chr12 | 687426 | 687611 | E068 | -49103 |
| chr12 | 687708 | 687870 | E068 | -48844 |
| chr12 | 687950 | 688577 | E068 | -48137 |
| chr12 | 688704 | 688908 | E068 | -47806 |
| chr12 | 700312 | 701516 | E068 | -35198 |
| chr12 | 716617 | 717348 | E068 | -19366 |
| chr12 | 717634 | 717723 | E068 | -18991 |
| chr12 | 723179 | 724219 | E068 | -12495 |
| chr12 | 728681 | 728833 | E068 | -7881 |
| chr12 | 728886 | 729043 | E068 | -7671 |
| chr12 | 729191 | 729301 | E068 | -7413 |
| chr12 | 740980 | 742132 | E068 | 4266 |
| chr12 | 753558 | 753690 | E068 | 16844 |
| chr12 | 753719 | 753776 | E068 | 17005 |
| chr12 | 753796 | 753868 | E068 | 17082 |
| chr12 | 753995 | 754522 | E068 | 17281 |
| chr12 | 754574 | 754683 | E068 | 17860 |
| chr12 | 755610 | 756190 | E068 | 18896 |
| chr12 | 756299 | 756533 | E068 | 19585 |
| chr12 | 756582 | 756911 | E068 | 19868 |
| chr12 | 760016 | 760066 | E068 | 23302 |
| chr12 | 760142 | 760491 | E068 | 23428 |
| chr12 | 768011 | 768163 | E068 | 31297 |
| chr12 | 768281 | 768560 | E068 | 31567 |
| chr12 | 768608 | 768732 | E068 | 31894 |
| chr12 | 768774 | 768840 | E068 | 32060 |
| chr12 | 769089 | 769162 | E068 | 32375 |
| chr12 | 773349 | 773542 | E068 | 36635 |
| chr12 | 773704 | 773744 | E068 | 36990 |
| chr12 | 774013 | 774137 | E068 | 37299 |
| chr12 | 774150 | 774191 | E068 | 37436 |
| chr12 | 774215 | 774329 | E068 | 37501 |
| chr12 | 784833 | 784927 | E068 | 48119 |
| chr12 | 785060 | 785110 | E068 | 48346 |
| chr12 | 687426 | 687611 | E069 | -49103 |
| chr12 | 687708 | 687870 | E069 | -48844 |
| chr12 | 687950 | 688577 | E069 | -48137 |
| chr12 | 688704 | 688908 | E069 | -47806 |
| chr12 | 700312 | 701516 | E069 | -35198 |
| chr12 | 715937 | 716503 | E069 | -20211 |
| chr12 | 716617 | 717348 | E069 | -19366 |
| chr12 | 717634 | 717723 | E069 | -18991 |
| chr12 | 723179 | 724219 | E069 | -12495 |
| chr12 | 728214 | 728464 | E069 | -8250 |
| chr12 | 728681 | 728833 | E069 | -7881 |
| chr12 | 728886 | 729043 | E069 | -7671 |
| chr12 | 729191 | 729301 | E069 | -7413 |
| chr12 | 729350 | 729409 | E069 | -7305 |
| chr12 | 729417 | 729457 | E069 | -7257 |
| chr12 | 729525 | 729596 | E069 | -7118 |
| chr12 | 740980 | 742132 | E069 | 4266 |
| chr12 | 751047 | 751475 | E069 | 14333 |
| chr12 | 753558 | 753690 | E069 | 16844 |
| chr12 | 753719 | 753776 | E069 | 17005 |
| chr12 | 753796 | 753868 | E069 | 17082 |
| chr12 | 753995 | 754522 | E069 | 17281 |
| chr12 | 754574 | 754683 | E069 | 17860 |
| chr12 | 754719 | 755372 | E069 | 18005 |
| chr12 | 755449 | 755567 | E069 | 18735 |
| chr12 | 755610 | 756190 | E069 | 18896 |
| chr12 | 756299 | 756533 | E069 | 19585 |
| chr12 | 756582 | 756911 | E069 | 19868 |
| chr12 | 760016 | 760066 | E069 | 23302 |
| chr12 | 760142 | 760491 | E069 | 23428 |
| chr12 | 760671 | 760755 | E069 | 23957 |
| chr12 | 767618 | 767730 | E069 | 30904 |
| chr12 | 767756 | 767796 | E069 | 31042 |
| chr12 | 768011 | 768163 | E069 | 31297 |
| chr12 | 768281 | 768560 | E069 | 31567 |
| chr12 | 768608 | 768732 | E069 | 31894 |
| chr12 | 768774 | 768840 | E069 | 32060 |
| chr12 | 769089 | 769162 | E069 | 32375 |
| chr12 | 773349 | 773542 | E069 | 36635 |
| chr12 | 773704 | 773744 | E069 | 36990 |
| chr12 | 774013 | 774137 | E069 | 37299 |
| chr12 | 774150 | 774191 | E069 | 37436 |
| chr12 | 687708 | 687870 | E070 | -48844 |
| chr12 | 687950 | 688577 | E070 | -48137 |
| chr12 | 716617 | 717348 | E070 | -19366 |
| chr12 | 717634 | 717723 | E070 | -18991 |
| chr12 | 687426 | 687611 | E071 | -49103 |
| chr12 | 687708 | 687870 | E071 | -48844 |
| chr12 | 687950 | 688577 | E071 | -48137 |
| chr12 | 688704 | 688908 | E071 | -47806 |
| chr12 | 688944 | 689051 | E071 | -47663 |
| chr12 | 689094 | 689165 | E071 | -47549 |
| chr12 | 700312 | 701516 | E071 | -35198 |
| chr12 | 701562 | 701739 | E071 | -34975 |
| chr12 | 715937 | 716503 | E071 | -20211 |
| chr12 | 716617 | 717348 | E071 | -19366 |
| chr12 | 717634 | 717723 | E071 | -18991 |
| chr12 | 718982 | 719102 | E071 | -17612 |
| chr12 | 719196 | 719895 | E071 | -16819 |
| chr12 | 721051 | 721222 | E071 | -15492 |
| chr12 | 721235 | 721312 | E071 | -15402 |
| chr12 | 721371 | 721454 | E071 | -15260 |
| chr12 | 721514 | 721558 | E071 | -15156 |
| chr12 | 721581 | 721744 | E071 | -14970 |
| chr12 | 723179 | 724219 | E071 | -12495 |
| chr12 | 725140 | 725245 | E071 | -11469 |
| chr12 | 725427 | 725493 | E071 | -11221 |
| chr12 | 725539 | 725593 | E071 | -11121 |
| chr12 | 725711 | 725814 | E071 | -10900 |
| chr12 | 726277 | 726327 | E071 | -10387 |
| chr12 | 726483 | 727080 | E071 | -9634 |
| chr12 | 727162 | 727374 | E071 | -9340 |
| chr12 | 728214 | 728464 | E071 | -8250 |
| chr12 | 728681 | 728833 | E071 | -7881 |
| chr12 | 728886 | 729043 | E071 | -7671 |
| chr12 | 729191 | 729301 | E071 | -7413 |
| chr12 | 729350 | 729409 | E071 | -7305 |
| chr12 | 729417 | 729457 | E071 | -7257 |
| chr12 | 729525 | 729596 | E071 | -7118 |
| chr12 | 739111 | 739487 | E071 | 2397 |
| chr12 | 740980 | 742132 | E071 | 4266 |
| chr12 | 742170 | 742268 | E071 | 5456 |
| chr12 | 749507 | 749654 | E071 | 12793 |
| chr12 | 749751 | 749791 | E071 | 13037 |
| chr12 | 749977 | 750329 | E071 | 13263 |
| chr12 | 753558 | 753690 | E071 | 16844 |
| chr12 | 753719 | 753776 | E071 | 17005 |
| chr12 | 753796 | 753868 | E071 | 17082 |
| chr12 | 753995 | 754522 | E071 | 17281 |
| chr12 | 754574 | 754683 | E071 | 17860 |
| chr12 | 754719 | 755372 | E071 | 18005 |
| chr12 | 755449 | 755567 | E071 | 18735 |
| chr12 | 755610 | 756190 | E071 | 18896 |
| chr12 | 756299 | 756533 | E071 | 19585 |
| chr12 | 756582 | 756911 | E071 | 19868 |
| chr12 | 760142 | 760491 | E071 | 23428 |
| chr12 | 760671 | 760755 | E071 | 23957 |
| chr12 | 767618 | 767730 | E071 | 30904 |
| chr12 | 767756 | 767796 | E071 | 31042 |
| chr12 | 768011 | 768163 | E071 | 31297 |
| chr12 | 768281 | 768560 | E071 | 31567 |
| chr12 | 768774 | 768840 | E071 | 32060 |
| chr12 | 769089 | 769162 | E071 | 32375 |
| chr12 | 769236 | 769286 | E071 | 32522 |
| chr12 | 773349 | 773542 | E071 | 36635 |
| chr12 | 773704 | 773744 | E071 | 36990 |
| chr12 | 774013 | 774137 | E071 | 37299 |
| chr12 | 774150 | 774191 | E071 | 37436 |
| chr12 | 774215 | 774329 | E071 | 37501 |
| chr12 | 775855 | 776228 | E071 | 39141 |
| chr12 | 776241 | 776402 | E071 | 39527 |
| chr12 | 776450 | 776877 | E071 | 39736 |
| chr12 | 776981 | 777115 | E071 | 40267 |
| chr12 | 783015 | 783400 | E071 | 46301 |
| chr12 | 783406 | 784136 | E071 | 46692 |
| chr12 | 687426 | 687611 | E072 | -49103 |
| chr12 | 687708 | 687870 | E072 | -48844 |
| chr12 | 687950 | 688577 | E072 | -48137 |
| chr12 | 688704 | 688908 | E072 | -47806 |
| chr12 | 688944 | 689051 | E072 | -47663 |
| chr12 | 700312 | 701516 | E072 | -35198 |
| chr12 | 716617 | 717348 | E072 | -19366 |
| chr12 | 717634 | 717723 | E072 | -18991 |
| chr12 | 719196 | 719895 | E072 | -16819 |
| chr12 | 723179 | 724219 | E072 | -12495 |
| chr12 | 728214 | 728464 | E072 | -8250 |
| chr12 | 728681 | 728833 | E072 | -7881 |
| chr12 | 728886 | 729043 | E072 | -7671 |
| chr12 | 729191 | 729301 | E072 | -7413 |
| chr12 | 729350 | 729409 | E072 | -7305 |
| chr12 | 729417 | 729457 | E072 | -7257 |
| chr12 | 729525 | 729596 | E072 | -7118 |
| chr12 | 735633 | 735734 | E072 | -980 |
| chr12 | 740980 | 742132 | E072 | 4266 |
| chr12 | 742170 | 742268 | E072 | 5456 |
| chr12 | 753796 | 753868 | E072 | 17082 |
| chr12 | 753995 | 754522 | E072 | 17281 |
| chr12 | 754574 | 754683 | E072 | 17860 |
| chr12 | 754719 | 755372 | E072 | 18005 |
| chr12 | 755610 | 756190 | E072 | 18896 |
| chr12 | 756299 | 756533 | E072 | 19585 |
| chr12 | 756582 | 756911 | E072 | 19868 |
| chr12 | 760671 | 760755 | E072 | 23957 |
| chr12 | 767618 | 767730 | E072 | 30904 |
| chr12 | 767756 | 767796 | E072 | 31042 |
| chr12 | 768011 | 768163 | E072 | 31297 |
| chr12 | 768281 | 768560 | E072 | 31567 |
| chr12 | 768608 | 768732 | E072 | 31894 |
| chr12 | 768774 | 768840 | E072 | 32060 |
| chr12 | 769089 | 769162 | E072 | 32375 |
| chr12 | 769236 | 769286 | E072 | 32522 |
| chr12 | 773349 | 773542 | E072 | 36635 |
| chr12 | 773704 | 773744 | E072 | 36990 |
| chr12 | 774013 | 774137 | E072 | 37299 |
| chr12 | 774150 | 774191 | E072 | 37436 |
| chr12 | 774215 | 774329 | E072 | 37501 |
| chr12 | 774812 | 774862 | E072 | 38098 |
| chr12 | 776241 | 776402 | E072 | 39527 |
| chr12 | 776450 | 776877 | E072 | 39736 |
| chr12 | 783406 | 784136 | E072 | 46692 |
| chr12 | 785060 | 785110 | E072 | 48346 |
| chr12 | 785914 | 785985 | E072 | 49200 |
| chr12 | 786009 | 786248 | E072 | 49295 |
| chr12 | 716617 | 717348 | E073 | -19366 |
| chr12 | 737110 | 737443 | E073 | 396 |
| chr12 | 737471 | 737591 | E073 | 757 |
| chr12 | 737704 | 737950 | E073 | 990 |
| chr12 | 740980 | 742132 | E073 | 4266 |
| chr12 | 753558 | 753690 | E073 | 16844 |
| chr12 | 753719 | 753776 | E073 | 17005 |
| chr12 | 753796 | 753868 | E073 | 17082 |
| chr12 | 753995 | 754522 | E073 | 17281 |
| chr12 | 754574 | 754683 | E073 | 17860 |
| chr12 | 754719 | 755372 | E073 | 18005 |
| chr12 | 755449 | 755567 | E073 | 18735 |
| chr12 | 755610 | 756190 | E073 | 18896 |
| chr12 | 756299 | 756533 | E073 | 19585 |
| chr12 | 756582 | 756911 | E073 | 19868 |
| chr12 | 768608 | 768732 | E073 | 31894 |
| chr12 | 773704 | 773744 | E073 | 36990 |
| chr12 | 774013 | 774137 | E073 | 37299 |
| chr12 | 774150 | 774191 | E073 | 37436 |
| chr12 | 687426 | 687611 | E074 | -49103 |
| chr12 | 687708 | 687870 | E074 | -48844 |
| chr12 | 687950 | 688577 | E074 | -48137 |
| chr12 | 688704 | 688908 | E074 | -47806 |
| chr12 | 696765 | 696815 | E074 | -39899 |
| chr12 | 696934 | 697087 | E074 | -39627 |
| chr12 | 697324 | 697374 | E074 | -39340 |
| chr12 | 699016 | 699077 | E074 | -37637 |
| chr12 | 699106 | 699157 | E074 | -37557 |
| chr12 | 699206 | 699282 | E074 | -37432 |
| chr12 | 699323 | 699383 | E074 | -37331 |
| chr12 | 699460 | 699855 | E074 | -36859 |
| chr12 | 700312 | 701516 | E074 | -35198 |
| chr12 | 715712 | 715862 | E074 | -20852 |
| chr12 | 715867 | 715917 | E074 | -20797 |
| chr12 | 715937 | 716503 | E074 | -20211 |
| chr12 | 716617 | 717348 | E074 | -19366 |
| chr12 | 717634 | 717723 | E074 | -18991 |
| chr12 | 717857 | 718679 | E074 | -18035 |
| chr12 | 719196 | 719895 | E074 | -16819 |
| chr12 | 723179 | 724219 | E074 | -12495 |
| chr12 | 724872 | 725129 | E074 | -11585 |
| chr12 | 725140 | 725245 | E074 | -11469 |
| chr12 | 725427 | 725493 | E074 | -11221 |
| chr12 | 725539 | 725593 | E074 | -11121 |
| chr12 | 725711 | 725814 | E074 | -10900 |
| chr12 | 726277 | 726327 | E074 | -10387 |
| chr12 | 726483 | 727080 | E074 | -9634 |
| chr12 | 728214 | 728464 | E074 | -8250 |
| chr12 | 728681 | 728833 | E074 | -7881 |
| chr12 | 728886 | 729043 | E074 | -7671 |
| chr12 | 729191 | 729301 | E074 | -7413 |
| chr12 | 729350 | 729409 | E074 | -7305 |
| chr12 | 729417 | 729457 | E074 | -7257 |
| chr12 | 729525 | 729596 | E074 | -7118 |
| chr12 | 740980 | 742132 | E074 | 4266 |
| chr12 | 742170 | 742268 | E074 | 5456 |
| chr12 | 753558 | 753690 | E074 | 16844 |
| chr12 | 753719 | 753776 | E074 | 17005 |
| chr12 | 753796 | 753868 | E074 | 17082 |
| chr12 | 753995 | 754522 | E074 | 17281 |
| chr12 | 754574 | 754683 | E074 | 17860 |
| chr12 | 754719 | 755372 | E074 | 18005 |
| chr12 | 755449 | 755567 | E074 | 18735 |
| chr12 | 755610 | 756190 | E074 | 18896 |
| chr12 | 756299 | 756533 | E074 | 19585 |
| chr12 | 756582 | 756911 | E074 | 19868 |
| chr12 | 760016 | 760066 | E074 | 23302 |
| chr12 | 760142 | 760491 | E074 | 23428 |
| chr12 | 767618 | 767730 | E074 | 30904 |
| chr12 | 767756 | 767796 | E074 | 31042 |
| chr12 | 768011 | 768163 | E074 | 31297 |
| chr12 | 768281 | 768560 | E074 | 31567 |
| chr12 | 768608 | 768732 | E074 | 31894 |
| chr12 | 768774 | 768840 | E074 | 32060 |
| chr12 | 769089 | 769162 | E074 | 32375 |
| chr12 | 773704 | 773744 | E074 | 36990 |
| chr12 | 774013 | 774137 | E074 | 37299 |
| chr12 | 774150 | 774191 | E074 | 37436 |
| chr12 | 774215 | 774329 | E074 | 37501 |
| chr12 | 776241 | 776402 | E074 | 39527 |
| chr12 | 776450 | 776877 | E074 | 39736 |
| chr12 | 782373 | 782706 | E074 | 45659 |
| chr12 | 783015 | 783400 | E074 | 46301 |
| chr12 | 783406 | 784136 | E074 | 46692 |
| chr12 | 771324 | 771545 | E081 | 34610 |
| chr12 | 687950 | 688577 | E082 | -48137 |
| chr12 | 716617 | 717348 | E082 | -19366 |
| chr12 | 751047 | 751475 | E082 | 14333 |
| Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
|---|---|---|---|---|
| chr12 | 751620 | 753465 | E067 | 14906 |
| chr12 | 751620 | 753465 | E068 | 14906 |
| chr12 | 751620 | 753465 | E069 | 14906 |
| chr12 | 751620 | 753465 | E070 | 14906 |
| chr12 | 751620 | 753465 | E071 | 14906 |
| chr12 | 751620 | 753465 | E072 | 14906 |
| chr12 | 751620 | 753465 | E073 | 14906 |
| chr12 | 751620 | 753465 | E074 | 14906 |
| chr12 | 751620 | 753465 | E082 | 14906 |