Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 16 | NC_000016.10:g.82896123G>A |
GRCh37.p13 chr 16 | NC_000016.9:g.82929728G>A |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
CDH13 transcript variant 2 | NM_001220488.1:c. | N/A | Intron Variant |
CDH13 transcript variant 3 | NM_001220489.1:c. | N/A | Intron Variant |
CDH13 transcript variant 4 | NM_001220490.1:c. | N/A | Intron Variant |
CDH13 transcript variant 5 | NM_001220491.1:c. | N/A | Intron Variant |
CDH13 transcript variant 6 | NM_001220492.1:c. | N/A | Intron Variant |
CDH13 transcript variant 1 | NM_001257.4:c. | N/A | Intron Variant |
CDH13 transcript variant X2 | XM_017022848.1:c. | N/A | Intron Variant |
CDH13 transcript variant X3 | XM_017022849.1:c. | N/A | Intron Variant |
CDH13 transcript variant X1 | XM_011522804.2:c. | N/A | Genic Upstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | G=0.005 | A=0.995 |
1000Genomes | American | Sub | 694 | G=0.080 | A=0.920 |
1000Genomes | East Asian | Sub | 1008 | G=0.125 | A=0.875 |
1000Genomes | Europe | Sub | 1006 | G=0.086 | A=0.914 |
1000Genomes | Global | Study-wide | 5008 | G=0.084 | A=0.916 |
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=0.087 | A=0.913 |
The Genome Aggregation Database | African | Sub | 8726 | G=0.017 | A=0.983 |
The Genome Aggregation Database | American | Sub | 836 | G=0.050 | A=0.950 |
The Genome Aggregation Database | East Asian | Sub | 1618 | G=0.127 | A=0.873 |
The Genome Aggregation Database | Europe | Sub | 18458 | G=0.104 | A=0.895 |
The Genome Aggregation Database | Global | Study-wide | 29940 | G=0.078 | A=0.921 |
The Genome Aggregation Database | Other | Sub | 302 | G=0.120 | A=0.880 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.058 | A=0.941 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.085 | A=0.915 |
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 |
---|---|---|---|
rs11150518 | 0.000101 | 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 ) |
---|---|---|---|---|
chr16 | 82926062 | 82926151 | E067 | -3577 |
chr16 | 82926384 | 82926431 | E067 | -3297 |
chr16 | 82914033 | 82914108 | E070 | -15620 |
chr16 | 82914150 | 82914239 | E070 | -15489 |
chr16 | 82915797 | 82915914 | E070 | -13814 |
chr16 | 82915944 | 82916044 | E070 | -13684 |
chr16 | 82916065 | 82916127 | E070 | -13601 |
chr16 | 82958955 | 82959022 | E070 | 29227 |
chr16 | 82959238 | 82959278 | E070 | 29510 |
chr16 | 82959406 | 82959747 | E070 | 29678 |
chr16 | 82971649 | 82972037 | E070 | 41921 |
chr16 | 82972078 | 82972164 | E070 | 42350 |
chr16 | 82972190 | 82972240 | E070 | 42462 |
chr16 | 82972522 | 82972602 | E070 | 42794 |
chr16 | 82975477 | 82975527 | E070 | 45749 |
chr16 | 82976105 | 82976158 | E070 | 46377 |
chr16 | 82976356 | 82976410 | E070 | 46628 |
chr16 | 82976654 | 82976709 | E070 | 46926 |
chr16 | 82976760 | 82976814 | E070 | 47032 |
chr16 | 82977016 | 82977277 | E070 | 47288 |
chr16 | 82957590 | 82958399 | E071 | 27862 |
chr16 | 82957590 | 82958399 | E072 | 27862 |
chr16 | 82958475 | 82958611 | E072 | 28747 |
chr16 | 82958955 | 82959022 | E072 | 29227 |
chr16 | 82917233 | 82917518 | E073 | -12210 |
chr16 | 82917984 | 82918054 | E073 | -11674 |
chr16 | 82957590 | 82958399 | E074 | 27862 |
chr16 | 82891609 | 82891933 | E081 | -37795 |
chr16 | 82907781 | 82908041 | E081 | -21687 |
chr16 | 82908061 | 82908247 | E081 | -21481 |
chr16 | 82908254 | 82908560 | E081 | -21168 |
chr16 | 82908588 | 82908678 | E081 | -21050 |
chr16 | 82915071 | 82915121 | E081 | -14607 |
chr16 | 82915134 | 82915255 | E081 | -14473 |
chr16 | 82915257 | 82915399 | E081 | -14329 |
chr16 | 82907781 | 82908041 | E082 | -21687 |
chr16 | 82908061 | 82908247 | E082 | -21481 |
chr16 | 82908254 | 82908560 | E082 | -21168 |
chr16 | 82908588 | 82908678 | E082 | -21050 |