Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 1 | NC_000001.11:g.241100916A>G |
GRCh37.p13 chr 1 | NC_000001.10:g.241264216A>G |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
RGS7 transcript variant 2 | NM_001282773.1:c. | N/A | Intron Variant |
RGS7 transcript variant 3 | NM_001282775.1:c. | N/A | Intron Variant |
RGS7 transcript variant 4 | NM_001282778.1:c. | N/A | Intron Variant |
RGS7 transcript variant 1 | NM_002924.5:c. | N/A | Intron Variant |
RGS7 transcript variant X1 | XM_005273218.3:c. | N/A | Intron Variant |
RGS7 transcript variant X4 | XM_006711800.3:c. | N/A | Intron Variant |
RGS7 transcript variant X5 | XM_011544246.2:c. | N/A | Intron Variant |
RGS7 transcript variant X6 | XM_011544247.2:c. | N/A | Intron Variant |
RGS7 transcript variant X2 | XM_017002001.1:c. | N/A | Intron Variant |
RGS7 transcript variant X3 | XM_017002002.1:c. | N/A | Intron Variant |
RGS7 transcript variant X7 | XM_017002003.1:c. | N/A | Intron Variant |
RGS7 transcript variant X8 | XM_017002004.1:c. | N/A | Intron Variant |
RGS7 transcript variant X9 | XM_017002005.1:c. | N/A | Intron Variant |
RGS7 transcript variant X10 | XM_017002006.1:c. | N/A | Intron Variant |
RGS7 transcript variant X11 | XM_017002007.1:c. | N/A | Intron Variant |
RGS7 transcript variant X12 | XM_017002008.1:c. | N/A | Intron Variant |
RGS7 transcript variant X10 | XM_017002009.1:c. | N/A | Intron Variant |
RGS7 transcript variant X14 | XM_017002010.1:c. | N/A | Intron Variant |
RGS7 transcript variant X15 | XM_017002011.1:c. | N/A | Genic Upstream Transcript Variant |
RGS7 transcript variant X16 | XM_017002012.1:c. | N/A | Genic Upstream Transcript Variant |
RGS7 transcript variant X13 | XM_017002013.1:c. | N/A | Genic Upstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | A=0.823 | G=0.177 |
1000Genomes | American | Sub | 694 | A=0.840 | G=0.160 |
1000Genomes | East Asian | Sub | 1008 | A=0.978 | G=0.022 |
1000Genomes | Europe | Sub | 1006 | A=0.850 | G=0.150 |
1000Genomes | Global | Study-wide | 5008 | A=0.878 | G=0.122 |
1000Genomes | South Asian | Sub | 978 | A=0.900 | G=0.100 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.856 | G=0.144 |
The Genome Aggregation Database | African | Sub | 8708 | A=0.809 | G=0.191 |
The Genome Aggregation Database | American | Sub | 836 | A=0.850 | G=0.150 |
The Genome Aggregation Database | East Asian | Sub | 1622 | A=0.993 | G=0.007 |
The Genome Aggregation Database | Europe | Sub | 18484 | A=0.874 | G=0.125 |
The Genome Aggregation Database | Global | Study-wide | 29952 | A=0.861 | G=0.138 |
The Genome Aggregation Database | Other | Sub | 302 | A=0.870 | G=0.130 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29116 | A=0.845 | G=0.154 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.864 | G=0.136 |
PMID | Title | Author | Journal |
---|---|---|---|
24277619 | ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample. | Quillen EE | Am J Med Genet B Neuropsychiatr Genet |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs12086317 | 0.000853 | alcohol dependence | 24277619 |
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 | 241237918 | 241238117 | E068 | -26099 |
chr1 | 241237918 | 241238117 | E069 | -26099 |
chr1 | 241219505 | 241219675 | E070 | -44541 |
chr1 | 241219899 | 241219947 | E070 | -44269 |
chr1 | 241237918 | 241238117 | E071 | -26099 |
chr1 | 241237918 | 241238117 | E073 | -26099 |
chr1 | 241242355 | 241242698 | E073 | -21518 |
chr1 | 241237918 | 241238117 | E074 | -26099 |
chr1 | 241307188 | 241307332 | E081 | 42972 |