Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 15 | NC_000015.10:g.33600096T>C |
GRCh37.p13 chr 15 | NC_000015.9:g.33892297T>C |
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 | Intron Variant |
RYR3 transcript variant X12 | XR_001751369.1:n. | N/A | Intron Variant |
RYR3 transcript variant X14 | XR_001751370.1:n. | N/A | Intron Variant |
RYR3 transcript variant X14 | XR_001751371.1:n. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | T=0.813 | C=0.187 |
1000Genomes | American | Sub | 694 | T=0.900 | C=0.100 |
1000Genomes | East Asian | Sub | 1008 | T=0.414 | C=0.586 |
1000Genomes | Europe | Sub | 1006 | T=0.951 | C=0.049 |
1000Genomes | Global | Study-wide | 5008 | T=0.773 | C=0.227 |
1000Genomes | South Asian | Sub | 978 | T=0.820 | C=0.180 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.961 | C=0.039 |
The Genome Aggregation Database | African | Sub | 8722 | T=0.815 | C=0.185 |
The Genome Aggregation Database | American | Sub | 838 | T=0.880 | C=0.120 |
The Genome Aggregation Database | East Asian | Sub | 1622 | T=0.434 | C=0.566 |
The Genome Aggregation Database | Europe | Sub | 18500 | T=0.943 | C=0.056 |
The Genome Aggregation Database | Global | Study-wide | 29984 | T=0.877 | C=0.123 |
The Genome Aggregation Database | Other | Sub | 302 | T=0.960 | C=0.040 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | T=0.871 | C=0.128 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.962 | C=0.038 |
PMID | Title | Author | Journal |
---|---|---|---|
20201924 | Genome-wide association study of alcohol dependence implicates a region on chromosome 11. | Edenberg HJ | Alcohol Clin Exp Res |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs16973062 | 0.000462 | alcohol dependence | 20201924 |
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 | 33872448 | 33872691 | E067 | -19606 |
chr15 | 33872696 | 33873206 | E067 | -19091 |
chr15 | 33873244 | 33873789 | E067 | -18508 |
chr15 | 33843244 | 33843331 | E068 | -48966 |
chr15 | 33844021 | 33844061 | E068 | -48236 |
chr15 | 33844206 | 33844598 | E068 | -47699 |
chr15 | 33844679 | 33844729 | E068 | -47568 |
chr15 | 33844829 | 33845087 | E068 | -47210 |
chr15 | 33845579 | 33845662 | E068 | -46635 |
chr15 | 33851247 | 33851441 | E068 | -40856 |
chr15 | 33851500 | 33851716 | E068 | -40581 |
chr15 | 33872696 | 33873206 | E068 | -19091 |
chr15 | 33844021 | 33844061 | E070 | -48236 |
chr15 | 33844206 | 33844598 | E070 | -47699 |
chr15 | 33844679 | 33844729 | E070 | -47568 |
chr15 | 33844829 | 33845087 | E070 | -47210 |
chr15 | 33845579 | 33845662 | E070 | -46635 |
chr15 | 33931797 | 33931889 | E070 | 39500 |
chr15 | 33932904 | 33932954 | E070 | 40607 |
chr15 | 33933296 | 33933465 | E070 | 40999 |
chr15 | 33931797 | 33931889 | E081 | 39500 |