| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 12 | NC_000012.12:g.57552077G>A |
| GRCh37.p13 chr 12 | NC_000012.11:g.57945860G>A |
| KIF5A RefSeqGene | NG_008155.1:g.7014G>A |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| KIF5A transcript | NM_004984.2:c. | N/A | Intron Variant |
| Study | Population | Group | Sample # | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| 1000Genomes | African | Sub | 1322 | G=1.000 | A=0.000 |
| 1000Genomes | American | Sub | 694 | G=1.000 | A=0.000 |
| 1000Genomes | East Asian | Sub | 1008 | G=1.000 | A=0.000 |
| 1000Genomes | Europe | Sub | 1006 | G=0.977 | A=0.023 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.994 | A=0.006 |
| 1000Genomes | South Asian | Sub | 978 | G=0.990 | A=0.010 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.988 | A=0.012 |
| The Genome Aggregation Database | African | Sub | 8716 | G=0.998 | A=0.002 |
| The Genome Aggregation Database | American | Sub | 838 | G=0.990 | A=0.010 |
| The Genome Aggregation Database | East Asian | Sub | 1622 | G=1.000 | A=0.000 |
| The Genome Aggregation Database | Europe | Sub | 18486 | G=0.977 | A=0.022 |
| The Genome Aggregation Database | Global | Study-wide | 29964 | G=0.985 | A=0.014 |
| The Genome Aggregation Database | Other | Sub | 302 | G=0.990 | A=0.010 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.992 | A=0.007 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.988 | A=0.012 |
| 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 |
|---|---|---|---|
| rs1148551 | 0.00074 | 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 | 57910447 | 57911081 | E067 | -34779 |
| chr12 | 57911093 | 57911330 | E067 | -34530 |
| chr12 | 57911348 | 57911490 | E067 | -34370 |
| chr12 | 57911504 | 57911591 | E067 | -34269 |
| chr12 | 57918415 | 57919003 | E067 | -26857 |
| chr12 | 57941538 | 57941615 | E067 | -4245 |
| chr12 | 57942846 | 57943177 | E067 | -2683 |
| chr12 | 57989615 | 57989655 | E067 | 43755 |
| chr12 | 57989691 | 57989741 | E067 | 43831 |
| chr12 | 57911093 | 57911330 | E068 | -34530 |
| chr12 | 57911348 | 57911490 | E068 | -34370 |
| chr12 | 57911504 | 57911591 | E068 | -34269 |
| chr12 | 57919004 | 57919195 | E068 | -26665 |
| chr12 | 57919198 | 57919312 | E068 | -26548 |
| chr12 | 57919329 | 57919413 | E068 | -26447 |
| chr12 | 57929056 | 57929165 | E068 | -16695 |
| chr12 | 57929382 | 57929462 | E068 | -16398 |
| chr12 | 57929508 | 57929639 | E068 | -16221 |
| chr12 | 57937337 | 57937458 | E068 | -8402 |
| chr12 | 57937463 | 57937751 | E068 | -8109 |
| chr12 | 57937883 | 57937951 | E068 | -7909 |
| chr12 | 57938775 | 57938892 | E068 | -6968 |
| chr12 | 57946085 | 57946151 | E068 | 225 |
| chr12 | 57946312 | 57946362 | E068 | 452 |
| chr12 | 57911093 | 57911330 | E069 | -34530 |
| chr12 | 57911348 | 57911490 | E069 | -34370 |
| chr12 | 57918415 | 57919003 | E069 | -26857 |
| chr12 | 57919004 | 57919195 | E069 | -26665 |
| chr12 | 57919198 | 57919312 | E069 | -26548 |
| chr12 | 57937337 | 57937458 | E069 | -8402 |
| chr12 | 57937463 | 57937751 | E069 | -8109 |
| chr12 | 57937883 | 57937951 | E069 | -7909 |
| chr12 | 57938775 | 57938892 | E069 | -6968 |
| chr12 | 57918415 | 57919003 | E070 | -26857 |
| chr12 | 57919004 | 57919195 | E070 | -26665 |
| chr12 | 57919198 | 57919312 | E070 | -26548 |
| chr12 | 57919329 | 57919413 | E070 | -26447 |
| chr12 | 57919497 | 57919547 | E070 | -26313 |
| chr12 | 57919596 | 57919669 | E070 | -26191 |
| chr12 | 57919727 | 57920070 | E070 | -25790 |
| chr12 | 57920074 | 57920277 | E070 | -25583 |
| chr12 | 57920377 | 57920427 | E070 | -25433 |
| chr12 | 57920470 | 57920903 | E070 | -24957 |
| chr12 | 57937337 | 57937458 | E070 | -8402 |
| chr12 | 57937463 | 57937751 | E070 | -8109 |
| chr12 | 57938775 | 57938892 | E070 | -6968 |
| chr12 | 57948692 | 57948811 | E070 | 2832 |
| chr12 | 57948820 | 57948870 | E070 | 2960 |
| chr12 | 57950684 | 57950748 | E070 | 4824 |
| chr12 | 57986304 | 57986681 | E070 | 40444 |
| chr12 | 57986737 | 57986941 | E070 | 40877 |
| chr12 | 57987016 | 57987056 | E070 | 41156 |
| chr12 | 57911348 | 57911490 | E071 | -34370 |
| chr12 | 57911504 | 57911591 | E071 | -34269 |
| chr12 | 57937337 | 57937458 | E071 | -8402 |
| chr12 | 57937463 | 57937751 | E071 | -8109 |
| chr12 | 57937883 | 57937951 | E071 | -7909 |
| chr12 | 57938775 | 57938892 | E071 | -6968 |
| chr12 | 57941538 | 57941615 | E071 | -4245 |
| chr12 | 57942846 | 57943177 | E071 | -2683 |
| chr12 | 57947093 | 57947283 | E071 | 1233 |
| chr12 | 57910447 | 57911081 | E072 | -34779 |
| chr12 | 57911093 | 57911330 | E072 | -34530 |
| chr12 | 57911348 | 57911490 | E072 | -34370 |
| chr12 | 57911504 | 57911591 | E072 | -34269 |
| chr12 | 57911874 | 57912541 | E072 | -33319 |
| chr12 | 57937337 | 57937458 | E072 | -8402 |
| chr12 | 57937463 | 57937751 | E072 | -8109 |
| chr12 | 57937883 | 57937951 | E072 | -7909 |
| chr12 | 57938775 | 57938892 | E072 | -6968 |
| chr12 | 57910447 | 57911081 | E073 | -34779 |
| chr12 | 57911093 | 57911330 | E073 | -34530 |
| chr12 | 57911348 | 57911490 | E073 | -34370 |
| chr12 | 57911504 | 57911591 | E073 | -34269 |
| chr12 | 57918415 | 57919003 | E073 | -26857 |
| chr12 | 57919004 | 57919195 | E073 | -26665 |
| chr12 | 57919198 | 57919312 | E073 | -26548 |
| chr12 | 57919329 | 57919413 | E073 | -26447 |
| chr12 | 57919497 | 57919547 | E073 | -26313 |
| chr12 | 57919596 | 57919669 | E073 | -26191 |
| chr12 | 57919727 | 57920070 | E073 | -25790 |
| chr12 | 57920074 | 57920277 | E073 | -25583 |
| chr12 | 57937337 | 57937458 | E073 | -8402 |
| chr12 | 57937463 | 57937751 | E073 | -8109 |
| chr12 | 57937883 | 57937951 | E073 | -7909 |
| chr12 | 57918415 | 57919003 | E074 | -26857 |
| chr12 | 57918415 | 57919003 | E081 | -26857 |
| chr12 | 57919004 | 57919195 | E081 | -26665 |
| chr12 | 57919198 | 57919312 | E081 | -26548 |
| chr12 | 57919329 | 57919413 | E081 | -26447 |
| chr12 | 57919497 | 57919547 | E081 | -26313 |
| chr12 | 57919596 | 57919669 | E081 | -26191 |
| chr12 | 57919727 | 57920070 | E081 | -25790 |
| chr12 | 57920074 | 57920277 | E081 | -25583 |
| chr12 | 57938775 | 57938892 | E081 | -6968 |
| chr12 | 57942846 | 57943177 | E081 | -2683 |
| chr12 | 57946312 | 57946362 | E081 | 452 |
| chr12 | 57946408 | 57946458 | E081 | 548 |
| chr12 | 57946495 | 57946547 | E081 | 635 |
| chr12 | 57948692 | 57948811 | E081 | 2832 |
| chr12 | 57948820 | 57948870 | E081 | 2960 |
| chr12 | 57950250 | 57950469 | E081 | 4390 |
| chr12 | 57986304 | 57986681 | E081 | 40444 |
| chr12 | 57986737 | 57986941 | E081 | 40877 |
| chr12 | 57987016 | 57987056 | E081 | 41156 |
| chr12 | 57987138 | 57987204 | E081 | 41278 |
| chr12 | 57918415 | 57919003 | E082 | -26857 |
| chr12 | 57919004 | 57919195 | E082 | -26665 |
| chr12 | 57919198 | 57919312 | E082 | -26548 |
| chr12 | 57919329 | 57919413 | E082 | -26447 |
| chr12 | 57919497 | 57919547 | E082 | -26313 |
| chr12 | 57919596 | 57919669 | E082 | -26191 |
| chr12 | 57919727 | 57920070 | E082 | -25790 |
| chr12 | 57937337 | 57937458 | E082 | -8402 |
| chr12 | 57937463 | 57937751 | E082 | -8109 |
| chr12 | 57937883 | 57937951 | E082 | -7909 |
| chr12 | 57938775 | 57938892 | E082 | -6968 |
| chr12 | 57948692 | 57948811 | E082 | 2832 |
| chr12 | 57948820 | 57948870 | E082 | 2960 |
| Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
|---|---|---|---|---|
| chr12 | 57912852 | 57915051 | E067 | -30809 |
| chr12 | 57939511 | 57941533 | E067 | -4327 |
| chr12 | 57943248 | 57944621 | E067 | -1239 |
| chr12 | 57944681 | 57944857 | E067 | -1003 |
| chr12 | 57944886 | 57945001 | E067 | -859 |
| chr12 | 57945065 | 57945105 | E067 | -755 |
| chr12 | 57945115 | 57945274 | E067 | -586 |
| chr12 | 57945433 | 57945560 | E067 | -300 |
| chr12 | 57945589 | 57945751 | E067 | -109 |
| chr12 | 57945845 | 57945940 | E067 | 0 |
| chr12 | 57947293 | 57947404 | E067 | 1433 |
| chr12 | 57984184 | 57986177 | E067 | 38324 |
| chr12 | 57912852 | 57915051 | E068 | -30809 |
| chr12 | 57939511 | 57941533 | E068 | -4327 |
| chr12 | 57943248 | 57944621 | E068 | -1239 |
| chr12 | 57944681 | 57944857 | E068 | -1003 |
| chr12 | 57944886 | 57945001 | E068 | -859 |
| chr12 | 57945065 | 57945105 | E068 | -755 |
| chr12 | 57945115 | 57945274 | E068 | -586 |
| chr12 | 57945433 | 57945560 | E068 | -300 |
| chr12 | 57945589 | 57945751 | E068 | -109 |
| chr12 | 57947293 | 57947404 | E068 | 1433 |
| chr12 | 57984184 | 57986177 | E068 | 38324 |
| chr12 | 57912852 | 57915051 | E069 | -30809 |
| chr12 | 57939511 | 57941533 | E069 | -4327 |
| chr12 | 57943248 | 57944621 | E069 | -1239 |
| chr12 | 57944681 | 57944857 | E069 | -1003 |
| chr12 | 57944886 | 57945001 | E069 | -859 |
| chr12 | 57945065 | 57945105 | E069 | -755 |
| chr12 | 57945115 | 57945274 | E069 | -586 |
| chr12 | 57945433 | 57945560 | E069 | -300 |
| chr12 | 57945589 | 57945751 | E069 | -109 |
| chr12 | 57945845 | 57945940 | E069 | 0 |
| chr12 | 57947293 | 57947404 | E069 | 1433 |
| chr12 | 57984184 | 57986177 | E069 | 38324 |
| chr12 | 57912852 | 57915051 | E070 | -30809 |
| chr12 | 57939511 | 57941533 | E070 | -4327 |
| chr12 | 57943248 | 57944621 | E070 | -1239 |
| chr12 | 57944681 | 57944857 | E070 | -1003 |
| chr12 | 57944886 | 57945001 | E070 | -859 |
| chr12 | 57945065 | 57945105 | E070 | -755 |
| chr12 | 57945115 | 57945274 | E070 | -586 |
| chr12 | 57945433 | 57945560 | E070 | -300 |
| chr12 | 57945589 | 57945751 | E070 | -109 |
| chr12 | 57945845 | 57945940 | E070 | 0 |
| chr12 | 57947293 | 57947404 | E070 | 1433 |
| chr12 | 57984184 | 57986177 | E070 | 38324 |
| chr12 | 57912852 | 57915051 | E071 | -30809 |
| chr12 | 57939511 | 57941533 | E071 | -4327 |
| chr12 | 57943248 | 57944621 | E071 | -1239 |
| chr12 | 57944681 | 57944857 | E071 | -1003 |
| chr12 | 57984184 | 57986177 | E071 | 38324 |
| chr12 | 57912852 | 57915051 | E072 | -30809 |
| chr12 | 57939511 | 57941533 | E072 | -4327 |
| chr12 | 57943248 | 57944621 | E072 | -1239 |
| chr12 | 57944681 | 57944857 | E072 | -1003 |
| chr12 | 57944886 | 57945001 | E072 | -859 |
| chr12 | 57945065 | 57945105 | E072 | -755 |
| chr12 | 57945115 | 57945274 | E072 | -586 |
| chr12 | 57945433 | 57945560 | E072 | -300 |
| chr12 | 57945589 | 57945751 | E072 | -109 |
| chr12 | 57945845 | 57945940 | E072 | 0 |
| chr12 | 57947293 | 57947404 | E072 | 1433 |
| chr12 | 57984184 | 57986177 | E072 | 38324 |
| chr12 | 57912852 | 57915051 | E073 | -30809 |
| chr12 | 57939511 | 57941533 | E073 | -4327 |
| chr12 | 57943248 | 57944621 | E073 | -1239 |
| chr12 | 57944681 | 57944857 | E073 | -1003 |
| chr12 | 57944886 | 57945001 | E073 | -859 |
| chr12 | 57945065 | 57945105 | E073 | -755 |
| chr12 | 57945115 | 57945274 | E073 | -586 |
| chr12 | 57945433 | 57945560 | E073 | -300 |
| chr12 | 57945589 | 57945751 | E073 | -109 |
| chr12 | 57945845 | 57945940 | E073 | 0 |
| chr12 | 57947293 | 57947404 | E073 | 1433 |
| chr12 | 57984184 | 57986177 | E073 | 38324 |
| chr12 | 57912852 | 57915051 | E074 | -30809 |
| chr12 | 57939511 | 57941533 | E074 | -4327 |
| chr12 | 57943248 | 57944621 | E074 | -1239 |
| chr12 | 57944681 | 57944857 | E074 | -1003 |
| chr12 | 57984184 | 57986177 | E074 | 38324 |
| chr12 | 57912852 | 57915051 | E081 | -30809 |
| chr12 | 57943248 | 57944621 | E081 | -1239 |
| chr12 | 57944681 | 57944857 | E081 | -1003 |
| chr12 | 57944886 | 57945001 | E081 | -859 |
| chr12 | 57945065 | 57945105 | E081 | -755 |
| chr12 | 57945115 | 57945274 | E081 | -586 |
| chr12 | 57945433 | 57945560 | E081 | -300 |
| chr12 | 57945589 | 57945751 | E081 | -109 |
| chr12 | 57945845 | 57945940 | E081 | 0 |
| chr12 | 57947293 | 57947404 | E081 | 1433 |
| chr12 | 57984184 | 57986177 | E081 | 38324 |
| chr12 | 57912852 | 57915051 | E082 | -30809 |
| chr12 | 57939511 | 57941533 | E082 | -4327 |
| chr12 | 57943248 | 57944621 | E082 | -1239 |
| chr12 | 57944681 | 57944857 | E082 | -1003 |
| chr12 | 57944886 | 57945001 | E082 | -859 |
| chr12 | 57945065 | 57945105 | E082 | -755 |
| chr12 | 57945115 | 57945274 | E082 | -586 |
| chr12 | 57945433 | 57945560 | E082 | -300 |
| chr12 | 57945589 | 57945751 | E082 | -109 |
| chr12 | 57945845 | 57945940 | E082 | 0 |
| chr12 | 57947293 | 57947404 | E082 | 1433 |
| chr12 | 57984184 | 57986177 | E082 | 38324 |