Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 2 | NC_000002.12:g.46093741C>T |
GRCh37.p13 chr 2 | NC_000002.11:g.46320880C>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
PRKCE transcript | NM_005400.2:c. | N/A | Intron Variant |
PRKCE transcript variant X1 | XM_005264428.1:c. | N/A | Intron Variant |
PRKCE transcript variant X19 | XM_006712050.3:c. | N/A | Intron Variant |
PRKCE transcript variant X3 | XM_011532971.2:c. | N/A | Intron Variant |
PRKCE transcript variant X4 | XM_011532975.2:c. | N/A | Intron Variant |
PRKCE transcript variant X6 | XM_011532978.1:c. | N/A | Intron Variant |
PRKCE transcript variant X10 | XM_011532980.2:c. | N/A | Intron Variant |
PRKCE transcript variant X12 | XM_011532981.2:c. | N/A | Intron Variant |
PRKCE transcript variant X13 | XM_011532982.1:c. | N/A | Intron Variant |
PRKCE transcript variant X20 | XM_011532983.2:c. | N/A | Intron Variant |
PRKCE transcript variant X2 | XM_017004486.1:c. | N/A | Intron Variant |
PRKCE transcript variant X5 | XM_017004487.1:c. | N/A | Intron Variant |
PRKCE transcript variant X7 | XM_017004488.1:c. | N/A | Intron Variant |
PRKCE transcript variant X8 | XM_017004489.1:c. | N/A | Intron Variant |
PRKCE transcript variant X9 | XM_017004490.1:c. | N/A | Intron Variant |
PRKCE transcript variant X11 | XM_017004491.1:c. | N/A | Intron Variant |
PRKCE transcript variant X14 | XM_005264431.3:c. | N/A | Genic Downstream Transcript Variant |
PRKCE transcript variant X15 | XM_017004492.1:c. | N/A | Genic Downstream Transcript Variant |
PRKCE transcript variant X19 | XR_001738846.1:n. | N/A | Genic Downstream Transcript Variant |
PRKCE transcript variant X18 | XR_939695.2:n. | N/A | Genic Downstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | C=0.528 | T=0.472 |
1000Genomes | American | Sub | 694 | C=0.250 | T=0.750 |
1000Genomes | East Asian | Sub | 1008 | C=0.155 | T=0.845 |
1000Genomes | Europe | Sub | 1006 | C=0.191 | T=0.809 |
1000Genomes | Global | Study-wide | 5008 | C=0.297 | T=0.703 |
1000Genomes | South Asian | Sub | 978 | C=0.280 | T=0.720 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.207 | T=0.793 |
The Genome Aggregation Database | African | Sub | 8648 | C=0.475 | T=0.525 |
The Genome Aggregation Database | American | Sub | 836 | C=0.160 | T=0.840 |
The Genome Aggregation Database | East Asian | Sub | 1608 | C=0.159 | T=0.841 |
The Genome Aggregation Database | Europe | Sub | 18400 | C=0.189 | T=0.810 |
The Genome Aggregation Database | Global | Study-wide | 29792 | C=0.270 | T=0.729 |
The Genome Aggregation Database | Other | Sub | 300 | C=0.290 | T=0.710 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29116 | C=0.313 | T=0.686 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.201 | T=0.799 |
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 |
---|---|---|---|
rs2345955 | 0.00082 | nicotine smoking | 19268276 |
Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue |
---|---|---|---|---|---|---|
Chr2:46320880 | SRBD1 | ENSG00000068784.8 | C>T | 6.4017e-3 | 481576 | Nucleus_accumbens_basal_ganglia |
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 | 46290121 | 46290514 | E067 | -30366 |
chr2 | 46369822 | 46369992 | E067 | 48942 |
chr2 | 46370110 | 46370281 | E067 | 49230 |
chr2 | 46370381 | 46370741 | E067 | 49501 |
chr2 | 46285274 | 46285324 | E068 | -35556 |
chr2 | 46300404 | 46301187 | E068 | -19693 |
chr2 | 46325738 | 46326159 | E068 | 4858 |
chr2 | 46369822 | 46369992 | E068 | 48942 |
chr2 | 46370110 | 46370281 | E068 | 49230 |
chr2 | 46370381 | 46370741 | E068 | 49501 |
chr2 | 46290121 | 46290514 | E069 | -30366 |
chr2 | 46290566 | 46290710 | E069 | -30170 |
chr2 | 46324713 | 46325421 | E069 | 3833 |
chr2 | 46370110 | 46370281 | E069 | 49230 |
chr2 | 46370381 | 46370741 | E069 | 49501 |
chr2 | 46289518 | 46289654 | E071 | -31226 |
chr2 | 46289715 | 46289775 | E071 | -31105 |
chr2 | 46290121 | 46290514 | E071 | -30366 |
chr2 | 46290566 | 46290710 | E071 | -30170 |
chr2 | 46300404 | 46301187 | E071 | -19693 |
chr2 | 46342342 | 46342472 | E071 | 21462 |
chr2 | 46346103 | 46346943 | E071 | 25223 |
chr2 | 46369608 | 46369760 | E071 | 48728 |
chr2 | 46369822 | 46369992 | E071 | 48942 |
chr2 | 46370110 | 46370281 | E071 | 49230 |
chr2 | 46370381 | 46370741 | E071 | 49501 |
chr2 | 46285274 | 46285324 | E072 | -35556 |
chr2 | 46285443 | 46285524 | E072 | -35356 |
chr2 | 46369608 | 46369760 | E072 | 48728 |
chr2 | 46369822 | 46369992 | E072 | 48942 |
chr2 | 46370110 | 46370281 | E072 | 49230 |
chr2 | 46370381 | 46370741 | E072 | 49501 |
chr2 | 46285274 | 46285324 | E073 | -35556 |
chr2 | 46285443 | 46285524 | E073 | -35356 |
chr2 | 46299647 | 46299942 | E073 | -20938 |
chr2 | 46300404 | 46301187 | E073 | -19693 |
chr2 | 46361570 | 46362099 | E073 | 40690 |
chr2 | 46370110 | 46370281 | E073 | 49230 |
chr2 | 46370381 | 46370741 | E073 | 49501 |
chr2 | 46285274 | 46285324 | E074 | -35556 |
chr2 | 46285443 | 46285524 | E074 | -35356 |
chr2 | 46290121 | 46290514 | E074 | -30366 |
chr2 | 46310391 | 46310501 | E074 | -10379 |
chr2 | 46325738 | 46326159 | E074 | 4858 |
chr2 | 46326457 | 46326511 | E074 | 5577 |
chr2 | 46342342 | 46342472 | E074 | 21462 |
chr2 | 46369608 | 46369760 | E074 | 48728 |
chr2 | 46369822 | 46369992 | E074 | 48942 |
chr2 | 46370110 | 46370281 | E074 | 49230 |
chr2 | 46370381 | 46370741 | E074 | 49501 |
chr2 | 46343516 | 46343733 | E081 | 22636 |
chr2 | 46343738 | 46343920 | E081 | 22858 |
chr2 | 46343971 | 46344048 | E081 | 23091 |
chr2 | 46356873 | 46356923 | E081 | 35993 |