Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 16 | NC_000016.10:g.66832730T>G |
GRCh37.p13 chr 16 | NC_000016.9:g.66866633T>G |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
NAE1 transcript variant 2 | NM_001018159.1:c. | N/A | Upstream Transcript Variant |
NAE1 transcript variant 3 | NM_001018160.1:c. | N/A | Upstream Transcript Variant |
NAE1 transcript variant 4 | NM_001286500.1:c. | N/A | Upstream Transcript Variant |
NAE1 transcript variant 1 | NM_003905.3:c. | N/A | Upstream Transcript Variant |
NAE1 transcript variant X1 | XM_005256215.1:c. | N/A | Upstream Transcript Variant |
NAE1 transcript variant X2 | XM_011523422.2:c. | N/A | Upstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | T=0.930 | G=0.070 |
1000Genomes | American | Sub | 694 | T=0.600 | G=0.400 |
1000Genomes | East Asian | Sub | 1008 | T=0.385 | G=0.615 |
1000Genomes | Europe | Sub | 1006 | T=0.641 | G=0.359 |
1000Genomes | Global | Study-wide | 5008 | T=0.652 | G=0.348 |
1000Genomes | South Asian | Sub | 978 | T=0.600 | G=0.400 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.652 | G=0.348 |
The Genome Aggregation Database | African | Sub | 8718 | T=0.877 | G=0.123 |
The Genome Aggregation Database | American | Sub | 836 | T=0.520 | G=0.480 |
The Genome Aggregation Database | East Asian | Sub | 1614 | T=0.403 | G=0.597 |
The Genome Aggregation Database | Europe | Sub | 18464 | T=0.653 | G=0.347 |
The Genome Aggregation Database | Global | Study-wide | 29934 | T=0.700 | G=0.299 |
The Genome Aggregation Database | Other | Sub | 302 | T=0.560 | G=0.440 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | T=0.728 | G=0.271 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.658 | G=0.342 |
PMID | Title | Author | Journal |
---|---|---|---|
21529783 | A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications. | Heath AC | Biol Psychiatry |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs422945 | 7E-05 | alcoholism (heaviness of drinking) | 21529783 |
Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue |
---|---|---|---|---|---|---|
Chr16:66866633 | RP11-63M22.2 | ENSG00000260465.1 | T>G | 2.9202e-2 | 101640 | Cerebellum |
Chr16:66866633 | ELMO3 | ENSG00000102890.10 | T>G | 0.0000e+0 | -366381 | Cerebellum |
Probe ID | Position | Gene | beta | p-value |
---|---|---|---|---|
cg11258532 | chr16:66877873 | CA7 | 0.026875704023342 | 1.8501e-10 |
There is no significant Hi-C chromatin interaction data for this SNP.
Chromosome | Start | End | Region | Distance ( -/+ : Up/Downstream ) |
---|---|---|---|---|
chr16 | 66859533 | 66859625 | E067 | -7008 |
chr16 | 66860309 | 66860450 | E067 | -6183 |
chr16 | 66860538 | 66860588 | E067 | -6045 |
chr16 | 66862405 | 66862531 | E067 | -4102 |
chr16 | 66862811 | 66863012 | E067 | -3621 |
chr16 | 66863064 | 66863174 | E067 | -3459 |
chr16 | 66880828 | 66880882 | E067 | 14195 |
chr16 | 66880937 | 66881004 | E067 | 14304 |
chr16 | 66881044 | 66881160 | E067 | 14411 |
chr16 | 66881256 | 66881306 | E067 | 14623 |
chr16 | 66881450 | 66881500 | E067 | 14817 |
chr16 | 66894010 | 66894138 | E067 | 27377 |
chr16 | 66915963 | 66916136 | E067 | 49330 |
chr16 | 66916151 | 66916216 | E067 | 49518 |
chr16 | 66861893 | 66862001 | E068 | -4632 |
chr16 | 66862811 | 66863012 | E068 | -3621 |
chr16 | 66863064 | 66863174 | E068 | -3459 |
chr16 | 66915591 | 66915814 | E068 | 48958 |
chr16 | 66915963 | 66916136 | E068 | 49330 |
chr16 | 66862811 | 66863012 | E069 | -3621 |
chr16 | 66863064 | 66863174 | E069 | -3459 |
chr16 | 66915963 | 66916136 | E069 | 49330 |
chr16 | 66916151 | 66916216 | E069 | 49518 |
chr16 | 66862405 | 66862531 | E070 | -4102 |
chr16 | 66862811 | 66863012 | E071 | -3621 |
chr16 | 66863064 | 66863174 | E071 | -3459 |
chr16 | 66915591 | 66915814 | E071 | 48958 |
chr16 | 66915963 | 66916136 | E071 | 49330 |
chr16 | 66916151 | 66916216 | E071 | 49518 |
chr16 | 66916259 | 66916333 | E071 | 49626 |
chr16 | 66860309 | 66860450 | E072 | -6183 |
chr16 | 66860538 | 66860588 | E072 | -6045 |
chr16 | 66862811 | 66863012 | E072 | -3621 |
chr16 | 66863064 | 66863174 | E072 | -3459 |
chr16 | 66877049 | 66877104 | E072 | 10416 |
chr16 | 66880828 | 66880882 | E072 | 14195 |
chr16 | 66880937 | 66881004 | E072 | 14304 |
chr16 | 66881044 | 66881160 | E072 | 14411 |
chr16 | 66892955 | 66893458 | E072 | 26322 |
chr16 | 66893554 | 66893604 | E072 | 26921 |
chr16 | 66893734 | 66893803 | E072 | 27101 |
chr16 | 66893870 | 66893933 | E072 | 27237 |
chr16 | 66894010 | 66894138 | E072 | 27377 |
chr16 | 66915591 | 66915814 | E072 | 48958 |
chr16 | 66862811 | 66863012 | E073 | -3621 |
chr16 | 66863064 | 66863174 | E073 | -3459 |
chr16 | 66877119 | 66877339 | E073 | 10486 |
chr16 | 66880828 | 66880882 | E073 | 14195 |
chr16 | 66880937 | 66881004 | E073 | 14304 |
chr16 | 66881044 | 66881160 | E073 | 14411 |
chr16 | 66892955 | 66893458 | E073 | 26322 |
chr16 | 66893554 | 66893604 | E073 | 26921 |
chr16 | 66893734 | 66893803 | E073 | 27101 |
chr16 | 66893870 | 66893933 | E073 | 27237 |
chr16 | 66894010 | 66894138 | E073 | 27377 |
chr16 | 66915591 | 66915814 | E073 | 48958 |
chr16 | 66915963 | 66916136 | E073 | 49330 |
chr16 | 66860538 | 66860588 | E074 | -6045 |
chr16 | 66863064 | 66863174 | E074 | -3459 |
chr16 | 66862811 | 66863012 | E081 | -3621 |
chr16 | 66863064 | 66863174 | E081 | -3459 |
chr16 | 66860309 | 66860450 | E082 | -6183 |
chr16 | 66862405 | 66862531 | E082 | -4102 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr16 | 66864080 | 66864128 | E067 | -2505 |
chr16 | 66864129 | 66865515 | E067 | -1118 |
chr16 | 66877697 | 66878720 | E067 | 11064 |
chr16 | 66878772 | 66878839 | E067 | 12139 |
chr16 | 66878901 | 66879070 | E067 | 12268 |
chr16 | 66879821 | 66880032 | E067 | 13188 |
chr16 | 66880057 | 66880301 | E067 | 13424 |
chr16 | 66880379 | 66880469 | E067 | 13746 |
chr16 | 66913651 | 66915287 | E067 | 47018 |
chr16 | 66915392 | 66915575 | E067 | 48759 |
chr16 | 66864080 | 66864128 | E068 | -2505 |
chr16 | 66864129 | 66865515 | E068 | -1118 |
chr16 | 66877697 | 66878720 | E068 | 11064 |
chr16 | 66878772 | 66878839 | E068 | 12139 |
chr16 | 66878901 | 66879070 | E068 | 12268 |
chr16 | 66879821 | 66880032 | E068 | 13188 |
chr16 | 66880057 | 66880301 | E068 | 13424 |
chr16 | 66880379 | 66880469 | E068 | 13746 |
chr16 | 66913651 | 66915287 | E068 | 47018 |
chr16 | 66915392 | 66915575 | E068 | 48759 |
chr16 | 66864080 | 66864128 | E069 | -2505 |
chr16 | 66864129 | 66865515 | E069 | -1118 |
chr16 | 66877697 | 66878720 | E069 | 11064 |
chr16 | 66878772 | 66878839 | E069 | 12139 |
chr16 | 66878901 | 66879070 | E069 | 12268 |
chr16 | 66879821 | 66880032 | E069 | 13188 |
chr16 | 66913651 | 66915287 | E069 | 47018 |
chr16 | 66915392 | 66915575 | E069 | 48759 |
chr16 | 66864080 | 66864128 | E070 | -2505 |
chr16 | 66864129 | 66865515 | E070 | -1118 |
chr16 | 66913651 | 66915287 | E070 | 47018 |
chr16 | 66915392 | 66915575 | E070 | 48759 |
chr16 | 66864080 | 66864128 | E071 | -2505 |
chr16 | 66864129 | 66865515 | E071 | -1118 |
chr16 | 66913651 | 66915287 | E071 | 47018 |
chr16 | 66915392 | 66915575 | E071 | 48759 |
chr16 | 66864080 | 66864128 | E072 | -2505 |
chr16 | 66864129 | 66865515 | E072 | -1118 |
chr16 | 66877697 | 66878720 | E072 | 11064 |
chr16 | 66878772 | 66878839 | E072 | 12139 |
chr16 | 66878901 | 66879070 | E072 | 12268 |
chr16 | 66879821 | 66880032 | E072 | 13188 |
chr16 | 66880057 | 66880301 | E072 | 13424 |
chr16 | 66880379 | 66880469 | E072 | 13746 |
chr16 | 66913651 | 66915287 | E072 | 47018 |
chr16 | 66864080 | 66864128 | E073 | -2505 |
chr16 | 66864129 | 66865515 | E073 | -1118 |
chr16 | 66877697 | 66878720 | E073 | 11064 |
chr16 | 66878772 | 66878839 | E073 | 12139 |
chr16 | 66878901 | 66879070 | E073 | 12268 |
chr16 | 66879821 | 66880032 | E073 | 13188 |
chr16 | 66880057 | 66880301 | E073 | 13424 |
chr16 | 66880379 | 66880469 | E073 | 13746 |
chr16 | 66913651 | 66915287 | E073 | 47018 |
chr16 | 66915392 | 66915575 | E073 | 48759 |
chr16 | 66864080 | 66864128 | E074 | -2505 |
chr16 | 66864129 | 66865515 | E074 | -1118 |
chr16 | 66877697 | 66878720 | E074 | 11064 |
chr16 | 66878772 | 66878839 | E074 | 12139 |
chr16 | 66878901 | 66879070 | E074 | 12268 |
chr16 | 66913651 | 66915287 | E074 | 47018 |
chr16 | 66915392 | 66915575 | E074 | 48759 |
chr16 | 66864129 | 66865515 | E081 | -1118 |
chr16 | 66913651 | 66915287 | E081 | 47018 |
chr16 | 66864080 | 66864128 | E082 | -2505 |
chr16 | 66864129 | 66865515 | E082 | -1118 |
chr16 | 66877697 | 66878720 | E082 | 11064 |
chr16 | 66913651 | 66915287 | E082 | 47018 |
chr16 | 66915392 | 66915575 | E082 | 48759 |