Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 15 | NC_000015.10:g.33849304G>T |
GRCh37.p13 chr 15 | NC_000015.9:g.34141505G>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
RYR3 transcript variant 1 | NM_001036.4:c. | N/A | Intron Variant |
RYR3 transcript variant 2 | NM_001243996.2:c. | N/A | Intron Variant |
RYR3 transcript variant X9 | XM_011521880.2:c. | N/A | Intron Variant |
RYR3 transcript variant X1 | XM_017022468.1:c. | N/A | Intron Variant |
RYR3 transcript variant X2 | XM_017022469.1:c. | N/A | Intron Variant |
RYR3 transcript variant X3 | XM_017022470.1:c. | N/A | Intron Variant |
RYR3 transcript variant X4 | XM_017022471.1:c. | N/A | Intron Variant |
RYR3 transcript variant X5 | XM_017022472.1:c. | N/A | Intron Variant |
RYR3 transcript variant X7 | XM_017022473.1:c. | N/A | Intron Variant |
RYR3 transcript variant X8 | XM_017022474.1:c. | N/A | Intron Variant |
RYR3 transcript variant X10 | XM_017022475.1:c. | N/A | Intron Variant |
RYR3 transcript variant X11 | XM_017022476.1:c. | N/A | Intron Variant |
RYR3 transcript variant X13 | XM_017022477.1:c. | N/A | Genic Downstream Transcript Variant |
RYR3 transcript variant X12 | XR_001751369.1:n. | N/A | Intron Variant |
RYR3 transcript variant X14 | XR_001751370.1:n. | N/A | Genic Downstream Transcript Variant |
RYR3 transcript variant X14 | XR_001751371.1:n. | N/A | Genic Downstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | G=0.746 | T=0.254 |
1000Genomes | American | Sub | 694 | G=0.980 | T=0.020 |
1000Genomes | East Asian | Sub | 1008 | G=1.000 | T=0.000 |
1000Genomes | Europe | Sub | 1006 | G=0.990 | T=0.010 |
1000Genomes | Global | Study-wide | 5008 | G=0.898 | T=0.102 |
1000Genomes | South Asian | Sub | 978 | G=0.850 | T=0.150 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.997 | T=0.003 |
The Genome Aggregation Database | African | Sub | 8716 | G=0.807 | T=0.193 |
The Genome Aggregation Database | American | Sub | 838 | G=0.990 | T=0.010 |
The Genome Aggregation Database | East Asian | Sub | 1622 | G=0.999 | T=0.001 |
The Genome Aggregation Database | Europe | Sub | 18488 | G=0.997 | T=0.002 |
The Genome Aggregation Database | Global | Study-wide | 29966 | G=0.942 | T=0.058 |
The Genome Aggregation Database | Other | Sub | 302 | G=0.980 | T=0.020 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.909 | T=0.090 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.998 | T=0.002 |
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 |
---|---|---|---|
rs7172406 | 1.32E-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 ) |
---|---|---|---|---|
chr15 | 34164210 | 34164403 | E067 | 22705 |
chr15 | 34164425 | 34164720 | E067 | 22920 |
chr15 | 34157643 | 34158208 | E068 | 16138 |
chr15 | 34158261 | 34158889 | E068 | 16756 |
chr15 | 34164210 | 34164403 | E068 | 22705 |
chr15 | 34164425 | 34164720 | E068 | 22920 |
chr15 | 34164768 | 34164895 | E068 | 23263 |
chr15 | 34185943 | 34185993 | E068 | 44438 |
chr15 | 34185996 | 34186078 | E068 | 44491 |
chr15 | 34164210 | 34164403 | E069 | 22705 |
chr15 | 34164425 | 34164720 | E069 | 22920 |
chr15 | 34164768 | 34164895 | E069 | 23263 |
chr15 | 34118464 | 34118546 | E070 | -22959 |
chr15 | 34118619 | 34118810 | E070 | -22695 |
chr15 | 34164210 | 34164403 | E071 | 22705 |
chr15 | 34164425 | 34164720 | E071 | 22920 |
chr15 | 34164768 | 34164895 | E071 | 23263 |
chr15 | 34164210 | 34164403 | E072 | 22705 |
chr15 | 34164425 | 34164720 | E072 | 22920 |
chr15 | 34164768 | 34164895 | E072 | 23263 |
chr15 | 34164210 | 34164403 | E074 | 22705 |
chr15 | 34164425 | 34164720 | E074 | 22920 |
chr15 | 34164768 | 34164895 | E074 | 23263 |
chr15 | 34185943 | 34185993 | E074 | 44438 |
chr15 | 34185996 | 34186078 | E074 | 44491 |