Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 2 | NC_000002.12:g.45979613T>A |
GRCh38.p7 chr 2 | NC_000002.12:g.45979613T>G |
GRCh37.p13 chr 2 | NC_000002.11:g.46206752T>A |
GRCh37.p13 chr 2 | NC_000002.11:g.46206752T>G |
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 X14 | XM_005264431.3: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 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 X15 | XM_017004492.1:c. | N/A | Intron Variant |
PRKCE transcript variant X19 | XM_006712050.3:c. | N/A | Genic Upstream Transcript Variant |
PRKCE transcript variant X20 | XM_011532983.2:c. | N/A | Genic Upstream Transcript Variant |
PRKCE transcript variant X19 | XR_001738846.1:n. | N/A | Intron Variant |
PRKCE transcript variant X18 | XR_939695.2:n. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | T=0.971 | G=0.029 |
1000Genomes | American | Sub | 694 | T=0.590 | G=0.410 |
1000Genomes | East Asian | Sub | 1008 | T=0.408 | G=0.592 |
1000Genomes | Europe | Sub | 1006 | T=0.786 | G=0.214 |
1000Genomes | Global | Study-wide | 5008 | T=0.736 | G=0.264 |
1000Genomes | South Asian | Sub | 978 | T=0.800 | G=0.200 |
The Genome Aggregation Database | African | Sub | 8722 | T=0.935 | G=0.065 |
The Genome Aggregation Database | American | Sub | 838 | T=0.510 | G=0.490 |
The Genome Aggregation Database | East Asian | Sub | 1618 | T=0.453 | G=0.547 |
The Genome Aggregation Database | Europe | Sub | 18462 | T=0.755 | G=0.244 |
The Genome Aggregation Database | Global | Study-wide | 29942 | T=0.785 | G=0.214 |
The Genome Aggregation Database | Other | Sub | 302 | T=0.840 | G=0.160 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29116 | T=0.828 | G=0.171 |
PMID | Title | Author | Journal |
---|---|---|---|
17158188 | Novel genes identified in a high-density genome wide association study for nicotine dependence. | Bierut LJ | Hum Mol Genet |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs2595211 | 0.000902 | nicotine dependence | 17158188 |
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 | 130197005 | 130197635 | E070 | -4351 |
chr2 | 130248271 | 130248515 | E071 | 46285 |
chr2 | 130248798 | 130248888 | E071 | 46812 |
chr2 | 130185920 | 130186058 | E081 | -15928 |
chr2 | 130194530 | 130194810 | E081 | -7176 |
chr2 | 130195124 | 130195211 | E081 | -6775 |
chr2 | 130195420 | 130195691 | E081 | -6295 |
chr2 | 130195925 | 130196610 | E081 | -5376 |
chr2 | 130197005 | 130197635 | E081 | -4351 |
chr2 | 130201651 | 130201724 | E081 | -262 |
chr2 | 130202067 | 130202132 | E081 | 81 |
chr2 | 130227521 | 130227727 | E081 | 25535 |
chr2 | 130236485 | 130237093 | E081 | 34499 |
chr2 | 130237339 | 130237412 | E081 | 35353 |
chr2 | 130237562 | 130237687 | E081 | 35576 |
chr2 | 130248271 | 130248515 | E081 | 46285 |
chr2 | 130248798 | 130248888 | E081 | 46812 |
chr2 | 130250250 | 130250419 | E081 | 48264 |
chr2 | 130154789 | 130155073 | E082 | -46913 |
chr2 | 130158519 | 130158674 | E082 | -43312 |
chr2 | 130158744 | 130158864 | E082 | -43122 |
chr2 | 130185920 | 130186058 | E082 | -15928 |
chr2 | 130194530 | 130194810 | E082 | -7176 |
chr2 | 130195124 | 130195211 | E082 | -6775 |
chr2 | 130195420 | 130195691 | E082 | -6295 |
chr2 | 130195925 | 130196610 | E082 | -5376 |
chr2 | 130197005 | 130197635 | E082 | -4351 |
chr2 | 130201651 | 130201724 | E082 | -262 |
chr2 | 130202067 | 130202132 | E082 | 81 |
chr2 | 130227521 | 130227727 | E082 | 25535 |
chr2 | 130236485 | 130237093 | E082 | 34499 |
chr2 | 130237339 | 130237412 | E082 | 35353 |
chr2 | 130237562 | 130237687 | E082 | 35576 |
chr2 | 130248271 | 130248515 | E082 | 46285 |
chr2 | 130250250 | 130250419 | E082 | 48264 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr2 | 130201045 | 130201125 | E068 | -861 |