Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 2 | NC_000002.12:g.98244594C>T |
GRCh37.p13 chr 2 | NC_000002.11:g.98861057C>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
VWA3B transcript variant 1 | NM_144992.4:c. | N/A | Intron Variant |
VWA3B transcript variant X1 | XM_005263897.2:c. | N/A | Intron Variant |
VWA3B transcript variant X7 | XM_006712357.2:c. | N/A | Intron Variant |
VWA3B transcript variant X13 | XM_006712359.3:c. | N/A | Intron Variant |
VWA3B transcript variant X15 | XM_006712360.3:c. | N/A | Intron Variant |
VWA3B transcript variant X4 | XM_011510770.1:c. | N/A | Intron Variant |
VWA3B transcript variant X5 | XM_011510771.2:c. | N/A | Intron Variant |
VWA3B transcript variant X6 | XM_011510772.1:c. | N/A | Intron Variant |
VWA3B transcript variant X8 | XM_017003560.1:c. | N/A | Intron Variant |
VWA3B transcript variant X9 | XM_017003561.1:c. | N/A | Intron Variant |
VWA3B transcript variant X10 | XM_017003562.1:c. | N/A | Intron Variant |
VWA3B transcript variant X11 | XM_017003563.1:c. | N/A | Intron Variant |
VWA3B transcript variant X11 | XM_017003564.1:c. | N/A | Intron Variant |
VWA3B transcript variant X12 | XM_011510774.1:c. | N/A | Genic Downstream Transcript Variant |
VWA3B transcript variant X14 | XM_011510775.2:c. | N/A | Genic Downstream Transcript Variant |
VWA3B transcript variant X16 | XR_244881.1:n. | N/A | Intron Variant |
VWA3B transcript variant X2 | XR_922884.1:n. | N/A | Intron Variant |
VWA3B transcript variant X3 | XR_922885.2:n. | N/A | Intron Variant |
VWA3B transcript variant X15 | XR_922887.1:n. | N/A | Genic Downstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | C=0.365 | T=0.635 |
1000Genomes | American | Sub | 694 | C=0.500 | T=0.500 |
1000Genomes | East Asian | Sub | 1008 | C=0.202 | T=0.798 |
1000Genomes | Europe | Sub | 1006 | C=0.456 | T=0.544 |
1000Genomes | Global | Study-wide | 5008 | C=0.330 | T=0.670 |
1000Genomes | South Asian | Sub | 978 | C=0.160 | T=0.840 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.470 | T=0.530 |
The Genome Aggregation Database | African | Sub | 8678 | C=0.375 | T=0.625 |
The Genome Aggregation Database | American | Sub | 830 | C=0.520 | T=0.480 |
The Genome Aggregation Database | East Asian | Sub | 1614 | C=0.205 | T=0.795 |
The Genome Aggregation Database | Europe | Sub | 18452 | C=0.476 | T=0.523 |
The Genome Aggregation Database | Global | Study-wide | 29876 | C=0.432 | T=0.568 |
The Genome Aggregation Database | Other | Sub | 302 | C=0.330 | T=0.670 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.456 | T=0.544 |
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 |
---|---|---|---|
rs4608580 | 7.91E-05 | 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 | 98869934 | 98870260 | E067 | 8877 |
chr2 | 98857396 | 98857796 | E068 | -3261 |
chr2 | 98857396 | 98857796 | E069 | -3261 |
chr2 | 98828656 | 98828708 | E070 | -32349 |
chr2 | 98857396 | 98857796 | E070 | -3261 |
chr2 | 98868910 | 98869148 | E070 | 7853 |
chr2 | 98869934 | 98870260 | E070 | 8877 |
chr2 | 98893710 | 98894215 | E070 | 32653 |
chr2 | 98857396 | 98857796 | E071 | -3261 |
chr2 | 98850742 | 98850851 | E072 | -10206 |
chr2 | 98851381 | 98851518 | E072 | -9539 |
chr2 | 98857396 | 98857796 | E072 | -3261 |
chr2 | 98850742 | 98850851 | E074 | -10206 |
chr2 | 98828461 | 98828545 | E081 | -32512 |
chr2 | 98828656 | 98828708 | E081 | -32349 |
chr2 | 98868910 | 98869148 | E081 | 7853 |
chr2 | 98869934 | 98870260 | E081 | 8877 |
chr2 | 98828656 | 98828708 | E082 | -32349 |
chr2 | 98868910 | 98869148 | E082 | 7853 |
chr2 | 98869934 | 98870260 | E082 | 8877 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr2 | 98858540 | 98858821 | E067 | -2236 |
chr2 | 98858540 | 98858821 | E068 | -2236 |
chr2 | 98858540 | 98858821 | E069 | -2236 |
chr2 | 98858540 | 98858821 | E071 | -2236 |
chr2 | 98858540 | 98858821 | E072 | -2236 |
chr2 | 98858540 | 98858821 | E074 | -2236 |