Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 2 | NC_000002.12:g.205231812C>A |
GRCh38.p7 chr 2 | NC_000002.12:g.205231812C>T |
GRCh37.p13 chr 2 | NC_000002.11:g.206096536C>A |
GRCh37.p13 chr 2 | NC_000002.11:g.206096536C>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
PARD3B transcript variant 1 | NM_001302769.1:c. | N/A | Intron Variant |
PARD3B transcript variant 3 | NM_057177.6:c. | N/A | Intron Variant |
PARD3B transcript variant 2 | NM_152526.5:c. | N/A | Intron Variant |
PARD3B transcript variant 4 | NM_205863.3:c. | N/A | Intron Variant |
PARD3B transcript variant X1 | XM_011510552.2:c. | N/A | Intron Variant |
PARD3B transcript variant X13 | XM_011510553.2:c. | N/A | Intron Variant |
PARD3B transcript variant X2 | XM_017003283.1:c. | N/A | Intron Variant |
PARD3B transcript variant X3 | XM_017003284.1:c. | N/A | Intron Variant |
PARD3B transcript variant X4 | XM_017003285.1:c. | N/A | Intron Variant |
PARD3B transcript variant X5 | XM_017003286.1:c. | N/A | Intron Variant |
PARD3B transcript variant X6 | XM_017003287.1:c. | N/A | Intron Variant |
PARD3B transcript variant X7 | XM_017003288.1:c. | N/A | Intron Variant |
PARD3B transcript variant X8 | XM_017003289.1:c. | N/A | Intron Variant |
PARD3B transcript variant X9 | XM_017003290.1:c. | N/A | Intron Variant |
PARD3B transcript variant X10 | XM_017003291.1:c. | N/A | Intron Variant |
PARD3B transcript variant X11 | XM_017003292.1:c. | N/A | Intron Variant |
PARD3B transcript variant X12 | XM_017003293.1:c. | N/A | Intron Variant |
PARD3B transcript variant X14 | XM_017003294.1:c. | N/A | Genic Downstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | C=0.744 | A=0.256 |
1000Genomes | American | Sub | 694 | C=0.850 | A=0.150 |
1000Genomes | East Asian | Sub | 1008 | C=0.681 | A=0.319 |
1000Genomes | Europe | Sub | 1006 | C=0.841 | A=0.159 |
1000Genomes | Global | Study-wide | 5008 | C=0.785 | A=0.215 |
1000Genomes | South Asian | Sub | 978 | C=0.840 | A=0.160 |
The Genome Aggregation Database | African | Sub | 8704 | C=0.742 | T=0.000 |
The Genome Aggregation Database | American | Sub | 838 | C=0.860 | T=0.00, |
The Genome Aggregation Database | East Asian | Sub | 1618 | C=0.683 | T=0.000 |
The Genome Aggregation Database | Europe | Sub | 18466 | C=0.829 | T=0.000 |
The Genome Aggregation Database | Global | Study-wide | 29928 | C=0.797 | T=0.000 |
The Genome Aggregation Database | Other | Sub | 302 | C=0.830 | T=0.00, |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | C=0.798 | A=0.201 |
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 |
---|---|---|---|
rs11888554 | 0.000307 | 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 ) |
---|---|---|---|---|
chr2 | 71651018 | 71651221 | E067 | -6400 |
chr2 | 71694657 | 71694753 | E067 | 37036 |
chr2 | 71649879 | 71650251 | E069 | -7370 |
chr2 | 71651018 | 71651221 | E069 | -6400 |
chr2 | 71682483 | 71682852 | E069 | 24862 |
chr2 | 71628565 | 71628702 | E071 | -28919 |
chr2 | 71649879 | 71650251 | E071 | -7370 |
chr2 | 71651018 | 71651221 | E071 | -6400 |
chr2 | 71649879 | 71650251 | E072 | -7370 |
chr2 | 71651018 | 71651221 | E072 | -6400 |
chr2 | 71651018 | 71651221 | E073 | -6400 |
chr2 | 71682198 | 71682334 | E073 | 24577 |
chr2 | 71682483 | 71682852 | E073 | 24862 |
chr2 | 71682911 | 71683683 | E073 | 25290 |
chr2 | 71649879 | 71650251 | E074 | -7370 |
chr2 | 71651018 | 71651221 | E074 | -6400 |
chr2 | 71651018 | 71651221 | E082 | -6400 |
chr2 | 71680115 | 71680203 | E082 | 22494 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr2 | 71616537 | 71616605 | E067 | -41016 |
chr2 | 71616667 | 71616794 | E067 | -40827 |
chr2 | 71616952 | 71617070 | E067 | -40551 |
chr2 | 71680410 | 71682031 | E067 | 22789 |
chr2 | 71693253 | 71694425 | E067 | 35632 |
chr2 | 71694484 | 71694601 | E067 | 36863 |
chr2 | 71680410 | 71682031 | E068 | 22789 |
chr2 | 71693253 | 71694425 | E068 | 35632 |
chr2 | 71694484 | 71694601 | E068 | 36863 |
chr2 | 71616952 | 71617070 | E069 | -40551 |
chr2 | 71680410 | 71682031 | E069 | 22789 |
chr2 | 71693129 | 71693233 | E069 | 35508 |
chr2 | 71693253 | 71694425 | E069 | 35632 |
chr2 | 71616537 | 71616605 | E071 | -41016 |
chr2 | 71616667 | 71616794 | E071 | -40827 |
chr2 | 71616952 | 71617070 | E071 | -40551 |
chr2 | 71693253 | 71694425 | E071 | 35632 |
chr2 | 71694484 | 71694601 | E071 | 36863 |
chr2 | 71693253 | 71694425 | E072 | 35632 |
chr2 | 71680410 | 71682031 | E073 | 22789 |
chr2 | 71693253 | 71694425 | E073 | 35632 |
chr2 | 71694484 | 71694601 | E073 | 36863 |
chr2 | 71616537 | 71616605 | E074 | -41016 |
chr2 | 71616667 | 71616794 | E074 | -40827 |
chr2 | 71616952 | 71617070 | E074 | -40551 |
chr2 | 71693129 | 71693233 | E074 | 35508 |
chr2 | 71693253 | 71694425 | E074 | 35632 |
chr2 | 71694484 | 71694601 | E074 | 36863 |