Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 1 | NC_000001.11:g.237259689C>T |
GRCh37.p13 chr 1 | NC_000001.10:g.237422989C>T |
RYR2 RefSeqGene | NG_008799.2:g.222288C>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
RYR2 transcript | NM_001035.2:c. | N/A | Intron Variant |
RYR2 transcript variant X1 | XM_006711802.3:c. | N/A | Intron Variant |
RYR2 transcript variant X2 | XM_006711803.3:c. | N/A | Intron Variant |
RYR2 transcript variant X4 | XM_006711804.3:c. | N/A | Intron Variant |
RYR2 transcript variant X5 | XM_006711805.3:c. | N/A | Intron Variant |
RYR2 transcript variant X6 | XM_006711806.3:c. | N/A | Intron Variant |
RYR2 transcript variant X7 | XM_006711807.3:c. | N/A | Intron Variant |
RYR2 transcript variant X8 | XM_006711808.3:c. | N/A | Intron Variant |
RYR2 transcript variant X10 | XM_006711809.3:c. | N/A | Intron Variant |
RYR2 transcript variant X11 | XM_006711810.3:c. | N/A | Intron Variant |
RYR2 transcript variant X3 | XM_017002028.1:c. | N/A | Intron Variant |
RYR2 transcript variant X9 | XR_949152.2:n. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | C=0.191 | T=0.809 |
1000Genomes | American | Sub | 694 | C=0.100 | T=0.900 |
1000Genomes | East Asian | Sub | 1008 | C=0.070 | T=0.930 |
1000Genomes | Europe | Sub | 1006 | C=0.119 | T=0.881 |
1000Genomes | Global | Study-wide | 5008 | C=0.111 | T=0.889 |
1000Genomes | South Asian | Sub | 978 | C=0.050 | T=0.950 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.113 | T=0.887 |
The Genome Aggregation Database | African | Sub | 8720 | C=0.167 | T=0.833 |
The Genome Aggregation Database | American | Sub | 836 | C=0.120 | T=0.880 |
The Genome Aggregation Database | East Asian | Sub | 1614 | C=0.069 | T=0.931 |
The Genome Aggregation Database | Europe | Sub | 18472 | C=0.099 | T=0.900 |
The Genome Aggregation Database | Global | Study-wide | 29944 | C=0.118 | T=0.881 |
The Genome Aggregation Database | Other | Sub | 302 | C=0.140 | T=0.860 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29116 | C=0.141 | T=0.858 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.117 | T=0.883 |
PMID | Title | Author | Journal |
---|---|---|---|
20158304 | A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations. | Lind PA | Twin Res Hum Genet |
19804850 | A common variation in EDAR is a genetic determinant of shovel-shaped incisors. | Kimura R | Am J Hum Genet |
18817904 | Japanese population structure, based on SNP genotypes from 7003 individuals compared to other ethnic groups: effects on population-based association studies. | Yamaguchi-Kabata Y | Am J Hum Genet |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs10495392 | 4.33E-05 | alcohol and nictotine co-dependence | 20158304 |
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 ) |
---|---|---|---|---|
chr1 | 237383151 | 237383277 | E067 | -39712 |
chr1 | 237383438 | 237384003 | E067 | -38986 |
chr1 | 237445409 | 237445961 | E067 | 22420 |
chr1 | 237383151 | 237383277 | E068 | -39712 |
chr1 | 237383438 | 237384003 | E068 | -38986 |
chr1 | 237451297 | 237451645 | E068 | 28308 |
chr1 | 237451747 | 237451798 | E068 | 28758 |
chr1 | 237383438 | 237384003 | E069 | -38986 |
chr1 | 237445409 | 237445961 | E069 | 22420 |
chr1 | 237446186 | 237446246 | E069 | 23197 |
chr1 | 237446655 | 237446705 | E069 | 23666 |
chr1 | 237383151 | 237383277 | E070 | -39712 |
chr1 | 237383438 | 237384003 | E070 | -38986 |
chr1 | 237383151 | 237383277 | E071 | -39712 |
chr1 | 237451297 | 237451645 | E071 | 28308 |
chr1 | 237383151 | 237383277 | E072 | -39712 |
chr1 | 237383438 | 237384003 | E072 | -38986 |
chr1 | 237383151 | 237383277 | E074 | -39712 |
chr1 | 237445409 | 237445961 | E074 | 22420 |
chr1 | 237446186 | 237446246 | E074 | 23197 |
chr1 | 237451297 | 237451645 | E074 | 28308 |
chr1 | 237383151 | 237383277 | E081 | -39712 |
chr1 | 237383438 | 237384003 | E081 | -38986 |
chr1 | 237385280 | 237385368 | E081 | -37621 |
chr1 | 237383151 | 237383277 | E082 | -39712 |
chr1 | 237383438 | 237384003 | E082 | -38986 |
chr1 | 237389531 | 237390034 | E082 | -32955 |
chr1 | 237418071 | 237418225 | E082 | -4764 |
chr1 | 237445409 | 237445961 | E082 | 22420 |