Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 12 | NC_000012.12:g.39890752C>T |
GRCh37.p13 chr 12 | NC_000012.11:g.40284554C>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
SLC2A13 transcript | NM_052885.3:c. | N/A | Intron Variant |
SLC2A13 transcript variant X1 | XM_011537847.2:c. | N/A | Intron Variant |
SLC2A13 transcript variant X6 | XM_011537849.2:c. | N/A | Intron Variant |
SLC2A13 transcript variant X7 | XM_011537850.2:c. | N/A | Intron Variant |
SLC2A13 transcript variant X4 | XM_017018764.1:c. | N/A | Intron Variant |
SLC2A13 transcript variant X5 | XM_017018765.1:c. | N/A | Intron Variant |
SLC2A13 transcript variant X8 | XM_017018766.1:c. | N/A | Intron Variant |
SLC2A13 transcript variant X2 | XR_001748567.1:n. | N/A | Intron Variant |
SLC2A13 transcript variant X3 | XR_001748568.1:n. | N/A | Intron Variant |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
C12orf40 transcript variant 1 | NM_001031748.3:c. | N/A | Genic Downstream Transcript Variant |
C12orf40 transcript variant 2 | NM_001319247.1:c. | N/A | Genic Downstream Transcript Variant |
C12orf40 transcript variant 3 | NR_135051.1:n. | N/A | Intron Variant |
C12orf40 transcript variant X1 | XM_005268806.3:c. | N/A | Genic Downstream Transcript Variant |
C12orf40 transcript variant X2 | XM_011538231.2:c. | N/A | Genic Downstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | C=0.953 | T=0.047 |
1000Genomes | American | Sub | 694 | C=0.990 | T=0.010 |
1000Genomes | East Asian | Sub | 1008 | C=1.000 | T=0.000 |
1000Genomes | Europe | Sub | 1006 | C=1.000 | T=0.000 |
1000Genomes | Global | Study-wide | 5008 | C=0.987 | T=0.013 |
1000Genomes | South Asian | Sub | 978 | C=1.000 | T=0.000 |
The Genome Aggregation Database | African | Sub | 8730 | C=0.964 | T=0.036 |
The Genome Aggregation Database | American | Sub | 836 | C=0.990 | T=0.010 |
The Genome Aggregation Database | East Asian | Sub | 1618 | C=1.000 | T=0.000 |
The Genome Aggregation Database | Europe | Sub | 18496 | C=1.000 | T=0.000 |
The Genome Aggregation Database | Global | Study-wide | 29982 | C=0.989 | T=0.010 |
The Genome Aggregation Database | Other | Sub | 302 | C=1.000 | T=0.000 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | C=0.982 | T=0.017 |
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 |
---|---|---|---|
rs7135349 | 5.94E-05 | 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 | 40298372 | 40298517 | E067 | 13818 |
chr12 | 40298612 | 40298965 | E067 | 14058 |
chr12 | 40298612 | 40298965 | E068 | 14058 |
chr12 | 40299072 | 40299240 | E068 | 14518 |
chr12 | 40298612 | 40298965 | E069 | 14058 |
chr12 | 40299072 | 40299240 | E069 | 14518 |
chr12 | 40278458 | 40279006 | E070 | -5548 |
chr12 | 40279030 | 40279080 | E070 | -5474 |
chr12 | 40279946 | 40280220 | E070 | -4334 |
chr12 | 40280298 | 40280338 | E070 | -4216 |
chr12 | 40281619 | 40281714 | E070 | -2840 |
chr12 | 40281766 | 40282016 | E070 | -2538 |
chr12 | 40322042 | 40322100 | E070 | 37488 |
chr12 | 40322131 | 40322650 | E070 | 37577 |
chr12 | 40322707 | 40322787 | E070 | 38153 |
chr12 | 40299368 | 40299439 | E071 | 14814 |
chr12 | 40298372 | 40298517 | E072 | 13818 |
chr12 | 40298612 | 40298965 | E072 | 14058 |
chr12 | 40297838 | 40297888 | E073 | 13284 |
chr12 | 40298113 | 40298163 | E073 | 13559 |
chr12 | 40298372 | 40298517 | E073 | 13818 |
chr12 | 40298612 | 40298965 | E073 | 14058 |
chr12 | 40297721 | 40297765 | E081 | 13167 |
chr12 | 40297838 | 40297888 | E081 | 13284 |
chr12 | 40298113 | 40298163 | E081 | 13559 |
chr12 | 40298372 | 40298517 | E081 | 13818 |
chr12 | 40298612 | 40298965 | E081 | 14058 |
chr12 | 40299072 | 40299240 | E081 | 14518 |
chr12 | 40299368 | 40299439 | E081 | 14814 |
chr12 | 40300222 | 40300262 | E081 | 15668 |
chr12 | 40322042 | 40322100 | E081 | 37488 |
chr12 | 40322131 | 40322650 | E081 | 37577 |
chr12 | 40322707 | 40322787 | E081 | 38153 |
chr12 | 40324070 | 40324114 | E081 | 39516 |
chr12 | 40298612 | 40298965 | E082 | 14058 |
chr12 | 40299072 | 40299240 | E082 | 14518 |
chr12 | 40299368 | 40299439 | E082 | 14814 |
chr12 | 40322131 | 40322650 | E082 | 37577 |
chr12 | 40322707 | 40322787 | E082 | 38153 |