Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 12 | NC_000012.12:g.57549189C>T |
GRCh37.p13 chr 12 | NC_000012.11:g.57942972C>T |
KIF5A RefSeqGene | NG_008155.1:g.4126C>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
DCTN2 transcript variant 2 | NM_001261412.1:c. | N/A | Upstream Transcript Variant |
DCTN2 transcript variant 3 | NM_001261413.1:c. | N/A | Upstream Transcript Variant |
DCTN2 transcript variant 1 | NM_006400.4:c. | N/A | Upstream Transcript Variant |
DCTN2 transcript variant X3 | XM_011537761.2:c. | N/A | Upstream Transcript Variant |
DCTN2 transcript variant X1 | XR_001748556.1:n. | N/A | Upstream Transcript Variant |
DCTN2 transcript variant X2 | XR_944481.2:n. | N/A | Upstream Transcript Variant |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
KIF5A transcript | NM_004984.2:c. | N/A | Upstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | C=0.778 | T=0.222 |
1000Genomes | American | Sub | 694 | C=0.970 | T=0.030 |
1000Genomes | East Asian | Sub | 1008 | C=1.000 | T=0.000 |
1000Genomes | Europe | Sub | 1006 | C=0.951 | T=0.049 |
1000Genomes | Global | Study-wide | 5008 | C=0.916 | T=0.084 |
1000Genomes | South Asian | Sub | 978 | C=0.940 | T=0.060 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.971 | T=0.029 |
The Genome Aggregation Database | African | Sub | 8616 | C=0.826 | T=0.174 |
The Genome Aggregation Database | American | Sub | 836 | C=0.970 | T=0.030 |
The Genome Aggregation Database | East Asian | Sub | 1612 | C=0.999 | T=0.001 |
The Genome Aggregation Database | Europe | Sub | 18066 | C=0.959 | T=0.040 |
The Genome Aggregation Database | Global | Study-wide | 29432 | C=0.922 | T=0.077 |
The Genome Aggregation Database | Other | Sub | 302 | C=0.940 | T=0.060 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | C=0.891 | T=0.108 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.970 | T=0.030 |
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 |
---|---|---|---|
rs1148552 | 0.00049 | 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 | -31891 |
chr12 | 57911093 | 57911330 | E067 | -31642 |
chr12 | 57911348 | 57911490 | E067 | -31482 |
chr12 | 57911504 | 57911591 | E067 | -31381 |
chr12 | 57918415 | 57919003 | E067 | -23969 |
chr12 | 57941538 | 57941615 | E067 | -1357 |
chr12 | 57942846 | 57943177 | E067 | 0 |
chr12 | 57989615 | 57989655 | E067 | 46643 |
chr12 | 57989691 | 57989741 | E067 | 46719 |
chr12 | 57911093 | 57911330 | E068 | -31642 |
chr12 | 57911348 | 57911490 | E068 | -31482 |
chr12 | 57911504 | 57911591 | E068 | -31381 |
chr12 | 57919004 | 57919195 | E068 | -23777 |
chr12 | 57919198 | 57919312 | E068 | -23660 |
chr12 | 57919329 | 57919413 | E068 | -23559 |
chr12 | 57929056 | 57929165 | E068 | -13807 |
chr12 | 57929382 | 57929462 | E068 | -13510 |
chr12 | 57929508 | 57929639 | E068 | -13333 |
chr12 | 57937337 | 57937458 | E068 | -5514 |
chr12 | 57937463 | 57937751 | E068 | -5221 |
chr12 | 57937883 | 57937951 | E068 | -5021 |
chr12 | 57938775 | 57938892 | E068 | -4080 |
chr12 | 57946085 | 57946151 | E068 | 3113 |
chr12 | 57946312 | 57946362 | E068 | 3340 |
chr12 | 57911093 | 57911330 | E069 | -31642 |
chr12 | 57911348 | 57911490 | E069 | -31482 |
chr12 | 57918415 | 57919003 | E069 | -23969 |
chr12 | 57919004 | 57919195 | E069 | -23777 |
chr12 | 57919198 | 57919312 | E069 | -23660 |
chr12 | 57937337 | 57937458 | E069 | -5514 |
chr12 | 57937463 | 57937751 | E069 | -5221 |
chr12 | 57937883 | 57937951 | E069 | -5021 |
chr12 | 57938775 | 57938892 | E069 | -4080 |
chr12 | 57918415 | 57919003 | E070 | -23969 |
chr12 | 57919004 | 57919195 | E070 | -23777 |
chr12 | 57919198 | 57919312 | E070 | -23660 |
chr12 | 57919329 | 57919413 | E070 | -23559 |
chr12 | 57919497 | 57919547 | E070 | -23425 |
chr12 | 57919596 | 57919669 | E070 | -23303 |
chr12 | 57919727 | 57920070 | E070 | -22902 |
chr12 | 57920074 | 57920277 | E070 | -22695 |
chr12 | 57920377 | 57920427 | E070 | -22545 |
chr12 | 57920470 | 57920903 | E070 | -22069 |
chr12 | 57937337 | 57937458 | E070 | -5514 |
chr12 | 57937463 | 57937751 | E070 | -5221 |
chr12 | 57938775 | 57938892 | E070 | -4080 |
chr12 | 57948692 | 57948811 | E070 | 5720 |
chr12 | 57948820 | 57948870 | E070 | 5848 |
chr12 | 57950684 | 57950748 | E070 | 7712 |
chr12 | 57986304 | 57986681 | E070 | 43332 |
chr12 | 57986737 | 57986941 | E070 | 43765 |
chr12 | 57987016 | 57987056 | E070 | 44044 |
chr12 | 57911348 | 57911490 | E071 | -31482 |
chr12 | 57911504 | 57911591 | E071 | -31381 |
chr12 | 57937337 | 57937458 | E071 | -5514 |
chr12 | 57937463 | 57937751 | E071 | -5221 |
chr12 | 57937883 | 57937951 | E071 | -5021 |
chr12 | 57938775 | 57938892 | E071 | -4080 |
chr12 | 57941538 | 57941615 | E071 | -1357 |
chr12 | 57942846 | 57943177 | E071 | 0 |
chr12 | 57947093 | 57947283 | E071 | 4121 |
chr12 | 57910447 | 57911081 | E072 | -31891 |
chr12 | 57911093 | 57911330 | E072 | -31642 |
chr12 | 57911348 | 57911490 | E072 | -31482 |
chr12 | 57911504 | 57911591 | E072 | -31381 |
chr12 | 57911874 | 57912541 | E072 | -30431 |
chr12 | 57937337 | 57937458 | E072 | -5514 |
chr12 | 57937463 | 57937751 | E072 | -5221 |
chr12 | 57937883 | 57937951 | E072 | -5021 |
chr12 | 57938775 | 57938892 | E072 | -4080 |
chr12 | 57910447 | 57911081 | E073 | -31891 |
chr12 | 57911093 | 57911330 | E073 | -31642 |
chr12 | 57911348 | 57911490 | E073 | -31482 |
chr12 | 57911504 | 57911591 | E073 | -31381 |
chr12 | 57918415 | 57919003 | E073 | -23969 |
chr12 | 57919004 | 57919195 | E073 | -23777 |
chr12 | 57919198 | 57919312 | E073 | -23660 |
chr12 | 57919329 | 57919413 | E073 | -23559 |
chr12 | 57919497 | 57919547 | E073 | -23425 |
chr12 | 57919596 | 57919669 | E073 | -23303 |
chr12 | 57919727 | 57920070 | E073 | -22902 |
chr12 | 57920074 | 57920277 | E073 | -22695 |
chr12 | 57937337 | 57937458 | E073 | -5514 |
chr12 | 57937463 | 57937751 | E073 | -5221 |
chr12 | 57937883 | 57937951 | E073 | -5021 |
chr12 | 57918415 | 57919003 | E074 | -23969 |
chr12 | 57918415 | 57919003 | E081 | -23969 |
chr12 | 57919004 | 57919195 | E081 | -23777 |
chr12 | 57919198 | 57919312 | E081 | -23660 |
chr12 | 57919329 | 57919413 | E081 | -23559 |
chr12 | 57919497 | 57919547 | E081 | -23425 |
chr12 | 57919596 | 57919669 | E081 | -23303 |
chr12 | 57919727 | 57920070 | E081 | -22902 |
chr12 | 57920074 | 57920277 | E081 | -22695 |
chr12 | 57938775 | 57938892 | E081 | -4080 |
chr12 | 57942846 | 57943177 | E081 | 0 |
chr12 | 57946312 | 57946362 | E081 | 3340 |
chr12 | 57946408 | 57946458 | E081 | 3436 |
chr12 | 57946495 | 57946547 | E081 | 3523 |
chr12 | 57948692 | 57948811 | E081 | 5720 |
chr12 | 57948820 | 57948870 | E081 | 5848 |
chr12 | 57950250 | 57950469 | E081 | 7278 |
chr12 | 57986304 | 57986681 | E081 | 43332 |
chr12 | 57986737 | 57986941 | E081 | 43765 |
chr12 | 57987016 | 57987056 | E081 | 44044 |
chr12 | 57987138 | 57987204 | E081 | 44166 |
chr12 | 57918415 | 57919003 | E082 | -23969 |
chr12 | 57919004 | 57919195 | E082 | -23777 |
chr12 | 57919198 | 57919312 | E082 | -23660 |
chr12 | 57919329 | 57919413 | E082 | -23559 |
chr12 | 57919497 | 57919547 | E082 | -23425 |
chr12 | 57919596 | 57919669 | E082 | -23303 |
chr12 | 57919727 | 57920070 | E082 | -22902 |
chr12 | 57937337 | 57937458 | E082 | -5514 |
chr12 | 57937463 | 57937751 | E082 | -5221 |
chr12 | 57937883 | 57937951 | E082 | -5021 |
chr12 | 57938775 | 57938892 | E082 | -4080 |
chr12 | 57948692 | 57948811 | E082 | 5720 |
chr12 | 57948820 | 57948870 | E082 | 5848 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr12 | 57912852 | 57915051 | E067 | -27921 |
chr12 | 57939511 | 57941533 | E067 | -1439 |
chr12 | 57943248 | 57944621 | E067 | 276 |
chr12 | 57944681 | 57944857 | E067 | 1709 |
chr12 | 57944886 | 57945001 | E067 | 1914 |
chr12 | 57945065 | 57945105 | E067 | 2093 |
chr12 | 57945115 | 57945274 | E067 | 2143 |
chr12 | 57945433 | 57945560 | E067 | 2461 |
chr12 | 57945589 | 57945751 | E067 | 2617 |
chr12 | 57945845 | 57945940 | E067 | 2873 |
chr12 | 57947293 | 57947404 | E067 | 4321 |
chr12 | 57984184 | 57986177 | E067 | 41212 |
chr12 | 57912852 | 57915051 | E068 | -27921 |
chr12 | 57939511 | 57941533 | E068 | -1439 |
chr12 | 57943248 | 57944621 | E068 | 276 |
chr12 | 57944681 | 57944857 | E068 | 1709 |
chr12 | 57944886 | 57945001 | E068 | 1914 |
chr12 | 57945065 | 57945105 | E068 | 2093 |
chr12 | 57945115 | 57945274 | E068 | 2143 |
chr12 | 57945433 | 57945560 | E068 | 2461 |
chr12 | 57945589 | 57945751 | E068 | 2617 |
chr12 | 57947293 | 57947404 | E068 | 4321 |
chr12 | 57984184 | 57986177 | E068 | 41212 |
chr12 | 57912852 | 57915051 | E069 | -27921 |
chr12 | 57939511 | 57941533 | E069 | -1439 |
chr12 | 57943248 | 57944621 | E069 | 276 |
chr12 | 57944681 | 57944857 | E069 | 1709 |
chr12 | 57944886 | 57945001 | E069 | 1914 |
chr12 | 57945065 | 57945105 | E069 | 2093 |
chr12 | 57945115 | 57945274 | E069 | 2143 |
chr12 | 57945433 | 57945560 | E069 | 2461 |
chr12 | 57945589 | 57945751 | E069 | 2617 |
chr12 | 57945845 | 57945940 | E069 | 2873 |
chr12 | 57947293 | 57947404 | E069 | 4321 |
chr12 | 57984184 | 57986177 | E069 | 41212 |
chr12 | 57912852 | 57915051 | E070 | -27921 |
chr12 | 57939511 | 57941533 | E070 | -1439 |
chr12 | 57943248 | 57944621 | E070 | 276 |
chr12 | 57944681 | 57944857 | E070 | 1709 |
chr12 | 57944886 | 57945001 | E070 | 1914 |
chr12 | 57945065 | 57945105 | E070 | 2093 |
chr12 | 57945115 | 57945274 | E070 | 2143 |
chr12 | 57945433 | 57945560 | E070 | 2461 |
chr12 | 57945589 | 57945751 | E070 | 2617 |
chr12 | 57945845 | 57945940 | E070 | 2873 |
chr12 | 57947293 | 57947404 | E070 | 4321 |
chr12 | 57984184 | 57986177 | E070 | 41212 |
chr12 | 57912852 | 57915051 | E071 | -27921 |
chr12 | 57939511 | 57941533 | E071 | -1439 |
chr12 | 57943248 | 57944621 | E071 | 276 |
chr12 | 57944681 | 57944857 | E071 | 1709 |
chr12 | 57984184 | 57986177 | E071 | 41212 |
chr12 | 57912852 | 57915051 | E072 | -27921 |
chr12 | 57939511 | 57941533 | E072 | -1439 |
chr12 | 57943248 | 57944621 | E072 | 276 |
chr12 | 57944681 | 57944857 | E072 | 1709 |
chr12 | 57944886 | 57945001 | E072 | 1914 |
chr12 | 57945065 | 57945105 | E072 | 2093 |
chr12 | 57945115 | 57945274 | E072 | 2143 |
chr12 | 57945433 | 57945560 | E072 | 2461 |
chr12 | 57945589 | 57945751 | E072 | 2617 |
chr12 | 57945845 | 57945940 | E072 | 2873 |
chr12 | 57947293 | 57947404 | E072 | 4321 |
chr12 | 57984184 | 57986177 | E072 | 41212 |
chr12 | 57912852 | 57915051 | E073 | -27921 |
chr12 | 57939511 | 57941533 | E073 | -1439 |
chr12 | 57943248 | 57944621 | E073 | 276 |
chr12 | 57944681 | 57944857 | E073 | 1709 |
chr12 | 57944886 | 57945001 | E073 | 1914 |
chr12 | 57945065 | 57945105 | E073 | 2093 |
chr12 | 57945115 | 57945274 | E073 | 2143 |
chr12 | 57945433 | 57945560 | E073 | 2461 |
chr12 | 57945589 | 57945751 | E073 | 2617 |
chr12 | 57945845 | 57945940 | E073 | 2873 |
chr12 | 57947293 | 57947404 | E073 | 4321 |
chr12 | 57984184 | 57986177 | E073 | 41212 |
chr12 | 57912852 | 57915051 | E074 | -27921 |
chr12 | 57939511 | 57941533 | E074 | -1439 |
chr12 | 57943248 | 57944621 | E074 | 276 |
chr12 | 57944681 | 57944857 | E074 | 1709 |
chr12 | 57984184 | 57986177 | E074 | 41212 |
chr12 | 57912852 | 57915051 | E081 | -27921 |
chr12 | 57943248 | 57944621 | E081 | 276 |
chr12 | 57944681 | 57944857 | E081 | 1709 |
chr12 | 57944886 | 57945001 | E081 | 1914 |
chr12 | 57945065 | 57945105 | E081 | 2093 |
chr12 | 57945115 | 57945274 | E081 | 2143 |
chr12 | 57945433 | 57945560 | E081 | 2461 |
chr12 | 57945589 | 57945751 | E081 | 2617 |
chr12 | 57945845 | 57945940 | E081 | 2873 |
chr12 | 57947293 | 57947404 | E081 | 4321 |
chr12 | 57984184 | 57986177 | E081 | 41212 |
chr12 | 57912852 | 57915051 | E082 | -27921 |
chr12 | 57939511 | 57941533 | E082 | -1439 |
chr12 | 57943248 | 57944621 | E082 | 276 |
chr12 | 57944681 | 57944857 | E082 | 1709 |
chr12 | 57944886 | 57945001 | E082 | 1914 |
chr12 | 57945065 | 57945105 | E082 | 2093 |
chr12 | 57945115 | 57945274 | E082 | 2143 |
chr12 | 57945433 | 57945560 | E082 | 2461 |
chr12 | 57945589 | 57945751 | E082 | 2617 |
chr12 | 57945845 | 57945940 | E082 | 2873 |
chr12 | 57947293 | 57947404 | E082 | 4321 |
chr12 | 57984184 | 57986177 | E082 | 41212 |