Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 15 | NC_000015.10:g.33502351A>G |
GRCh37.p13 chr 15 | NC_000015.9:g.33794552A>G |
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 | A=0.596 | G=0.404 |
1000Genomes | American | Sub | 694 | A=0.880 | G=0.120 |
1000Genomes | East Asian | Sub | 1008 | A=0.714 | G=0.286 |
1000Genomes | Europe | Sub | 1006 | A=0.855 | G=0.145 |
1000Genomes | Global | Study-wide | 5008 | A=0.753 | G=0.247 |
1000Genomes | South Asian | Sub | 978 | A=0.810 | G=0.190 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.886 | G=0.114 |
The Genome Aggregation Database | African | Sub | 8716 | A=0.633 | G=0.367 |
The Genome Aggregation Database | American | Sub | 834 | A=0.880 | G=0.120 |
The Genome Aggregation Database | East Asian | Sub | 1616 | A=0.689 | G=0.311 |
The Genome Aggregation Database | Europe | Sub | 18486 | A=0.884 | G=0.115 |
The Genome Aggregation Database | Global | Study-wide | 29954 | A=0.800 | G=0.199 |
The Genome Aggregation Database | Other | Sub | 302 | A=0.810 | G=0.190 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | A=0.758 | G=0.241 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.878 | G=0.122 |
PMID | Title | Author | Journal |
---|---|---|---|
19581569 | Genome-wide association study of alcohol dependence. | Treutlein J | Arch Gen Psychiatry |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs4144333 | 1.96E-05 | alcohol dependence | 19581569 |
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 | 33745850 | 33745930 | E067 | -48622 |
chr15 | 33746084 | 33746181 | E067 | -48371 |
chr15 | 33746342 | 33746386 | E067 | -48166 |
chr15 | 33785216 | 33785332 | E067 | -9220 |
chr15 | 33746084 | 33746181 | E068 | -48371 |
chr15 | 33746342 | 33746386 | E068 | -48166 |
chr15 | 33746571 | 33746682 | E068 | -47870 |
chr15 | 33748848 | 33748962 | E068 | -45590 |
chr15 | 33760709 | 33760823 | E068 | -33729 |
chr15 | 33784802 | 33784902 | E068 | -9650 |
chr15 | 33784950 | 33785149 | E068 | -9403 |
chr15 | 33807495 | 33807578 | E068 | 12943 |
chr15 | 33807781 | 33807860 | E068 | 13229 |
chr15 | 33808160 | 33808242 | E068 | 13608 |
chr15 | 33812945 | 33813036 | E068 | 18393 |
chr15 | 33813470 | 33813520 | E068 | 18918 |
chr15 | 33813853 | 33813893 | E068 | 19301 |
chr15 | 33836275 | 33836388 | E068 | 41723 |
chr15 | 33843244 | 33843331 | E068 | 48692 |
chr15 | 33844021 | 33844061 | E068 | 49469 |
chr15 | 33784802 | 33784902 | E069 | -9650 |
chr15 | 33784950 | 33785149 | E069 | -9403 |
chr15 | 33785216 | 33785332 | E069 | -9220 |
chr15 | 33798817 | 33799051 | E070 | 4265 |
chr15 | 33799081 | 33799329 | E070 | 4529 |
chr15 | 33844021 | 33844061 | E070 | 49469 |
chr15 | 33760709 | 33760823 | E071 | -33729 |
chr15 | 33761097 | 33761258 | E071 | -33294 |
chr15 | 33784802 | 33784902 | E071 | -9650 |
chr15 | 33784802 | 33784902 | E073 | -9650 |
chr15 | 33784950 | 33785149 | E073 | -9403 |
chr15 | 33832568 | 33832650 | E073 | 38016 |
chr15 | 33840122 | 33840548 | E073 | 45570 |
chr15 | 33784950 | 33785149 | E074 | -9403 |
chr15 | 33785216 | 33785332 | E074 | -9220 |
chr15 | 33810228 | 33810493 | E074 | 15676 |
chr15 | 33810745 | 33810855 | E074 | 16193 |
chr15 | 33810972 | 33811236 | E074 | 16420 |
chr15 | 33813470 | 33813520 | E074 | 18918 |
chr15 | 33832568 | 33832650 | E074 | 38016 |
chr15 | 33760709 | 33760823 | E082 | -33729 |
chr15 | 33761097 | 33761258 | E082 | -33294 |
chr15 | 33783422 | 33783628 | E082 | -10924 |