Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 2 | NC_000002.12:g.205039410C>G |
GRCh37.p13 chr 2 | NC_000002.11:g.205904133C>G |
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 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 X14 | XM_017003294.1:c. | N/A | Intron Variant |
PARD3B transcript variant X8 | XM_017003289.1:c. | N/A | Genic Upstream Transcript Variant |
PARD3B transcript variant X12 | XM_017003293.1:c. | N/A | Genic Upstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | C=0.974 | G=0.026 |
1000Genomes | American | Sub | 694 | C=0.840 | G=0.160 |
1000Genomes | East Asian | Sub | 1008 | C=0.631 | G=0.369 |
1000Genomes | Europe | Sub | 1006 | C=0.795 | G=0.205 |
1000Genomes | Global | Study-wide | 5008 | C=0.832 | G=0.168 |
1000Genomes | South Asian | Sub | 978 | C=0.880 | G=0.120 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.755 | G=0.245 |
The Genome Aggregation Database | African | Sub | 8726 | C=0.941 | G=0.059 |
The Genome Aggregation Database | American | Sub | 834 | C=0.840 | G=0.160 |
The Genome Aggregation Database | East Asian | Sub | 1604 | C=0.619 | G=0.381 |
The Genome Aggregation Database | Europe | Sub | 18446 | C=0.777 | G=0.222 |
The Genome Aggregation Database | Global | Study-wide | 29912 | C=0.819 | G=0.180 |
The Genome Aggregation Database | Other | Sub | 302 | C=0.860 | G=0.140 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | C=0.830 | G=0.169 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.767 | G=0.233 |
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 |
---|---|---|---|
rs2082622 | 0.000489 | 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 | 205882688 | 205882879 | E067 | -21254 |
chr2 | 205888314 | 205888384 | E067 | -15749 |
chr2 | 205890482 | 205890571 | E067 | -13562 |
chr2 | 205890656 | 205890814 | E067 | -13319 |
chr2 | 205877605 | 205877729 | E068 | -26404 |
chr2 | 205882688 | 205882879 | E068 | -21254 |
chr2 | 205890656 | 205890814 | E068 | -13319 |
chr2 | 205951054 | 205951247 | E068 | 46921 |
chr2 | 205951534 | 205951604 | E068 | 47401 |
chr2 | 205888314 | 205888384 | E069 | -15749 |
chr2 | 205890656 | 205890814 | E069 | -13319 |
chr2 | 205908064 | 205908456 | E069 | 3931 |
chr2 | 205887007 | 205887086 | E071 | -17047 |
chr2 | 205888314 | 205888384 | E071 | -15749 |
chr2 | 205951054 | 205951247 | E071 | 46921 |
chr2 | 205951534 | 205951604 | E071 | 47401 |
chr2 | 205882688 | 205882879 | E072 | -21254 |
chr2 | 205887562 | 205888110 | E072 | -16023 |
chr2 | 205890656 | 205890814 | E072 | -13319 |
chr2 | 205890341 | 205890404 | E073 | -13729 |
chr2 | 205890482 | 205890571 | E073 | -13562 |
chr2 | 205875003 | 205875069 | E074 | -29064 |
chr2 | 205882688 | 205882879 | E074 | -21254 |
chr2 | 205888314 | 205888384 | E074 | -15749 |
chr2 | 205898809 | 205898869 | E074 | -5264 |
chr2 | 205898887 | 205899042 | E074 | -5091 |
chr2 | 205908064 | 205908456 | E074 | 3931 |
chr2 | 205951054 | 205951247 | E074 | 46921 |
chr2 | 205951534 | 205951604 | E074 | 47401 |
chr2 | 205890341 | 205890404 | E081 | -13729 |
chr2 | 205890482 | 205890571 | E081 | -13562 |
chr2 | 205887562 | 205888110 | E082 | -16023 |