Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 1 | NC_000001.11:g.220763226G>A |
GRCh37.p13 chr 1 | NC_000001.10:g.220936568G>A |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
MARC2 transcript variant 1 | NM_001317338.1:c. | N/A | Intron Variant |
MARC2 transcript variant 2 | NM_017898.4:c. | N/A | Intron Variant |
MARC2 transcript variant X6 | XM_006711407.2:c. | N/A | Intron Variant |
MARC2 transcript variant X2 | XM_011509684.1:c. | N/A | Intron Variant |
MARC2 transcript variant X4 | XM_017001581.1:c. | N/A | Intron Variant |
MARC2 transcript variant X1 | XR_001737257.1:n. | N/A | Intron Variant |
MARC2 transcript variant X3 | XR_001737258.1:n. | N/A | Intron Variant |
MARC2 transcript variant X2 | XR_247029.4:n. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | G=0.495 | A=0.505 |
1000Genomes | American | Sub | 694 | G=0.590 | A=0.410 |
1000Genomes | East Asian | Sub | 1008 | G=0.255 | A=0.745 |
1000Genomes | Europe | Sub | 1006 | G=0.781 | A=0.219 |
1000Genomes | Global | Study-wide | 5008 | G=0.541 | A=0.459 |
1000Genomes | South Asian | Sub | 978 | G=0.610 | A=0.390 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.820 | A=0.180 |
The Genome Aggregation Database | African | Sub | 8684 | G=0.527 | A=0.473 |
The Genome Aggregation Database | American | Sub | 838 | G=0.610 | A=0.390 |
The Genome Aggregation Database | East Asian | Sub | 1614 | G=0.233 | A=0.767 |
The Genome Aggregation Database | Europe | Sub | 18446 | G=0.776 | A=0.223 |
The Genome Aggregation Database | Global | Study-wide | 29884 | G=0.669 | A=0.331 |
The Genome Aggregation Database | Other | Sub | 302 | G=0.710 | A=0.290 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29116 | G=0.636 | A=0.363 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.804 | A=0.196 |
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 |
---|---|---|---|
rs11118597 | 0.000446 | alcohol dependence | 20201924 |
Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue |
---|---|---|---|---|---|---|
Chr1:220936568 | 3/2/2018 12:00:00 AM | ENSG00000117791.11 | G>A | 5.6644e-5 | 15001 | Cerebellum |
Chr1:220936568 | 3/2/2018 12:00:00 AM | ENSG00000117791.11 | G>A | 1.6577e-3 | 15001 | Cerebellar_Hemisphere |
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 | 220905971 | 220906038 | E067 | -30530 |
chr1 | 220906086 | 220907026 | E067 | -29542 |
chr1 | 220924196 | 220924295 | E067 | -12273 |
chr1 | 220924566 | 220924756 | E067 | -11812 |
chr1 | 220924760 | 220924925 | E067 | -11643 |
chr1 | 220924968 | 220925018 | E067 | -11550 |
chr1 | 220905971 | 220906038 | E068 | -30530 |
chr1 | 220924002 | 220924069 | E068 | -12499 |
chr1 | 220924196 | 220924295 | E068 | -12273 |
chr1 | 220924566 | 220924756 | E068 | -11812 |
chr1 | 220924760 | 220924925 | E068 | -11643 |
chr1 | 220949983 | 220950398 | E068 | 13415 |
chr1 | 220964957 | 220965020 | E068 | 28389 |
chr1 | 220924002 | 220924069 | E069 | -12499 |
chr1 | 220924196 | 220924295 | E069 | -12273 |
chr1 | 220924566 | 220924756 | E069 | -11812 |
chr1 | 220924760 | 220924925 | E069 | -11643 |
chr1 | 220924968 | 220925018 | E069 | -11550 |
chr1 | 220925119 | 220925171 | E069 | -11397 |
chr1 | 220948707 | 220948824 | E069 | 12139 |
chr1 | 220959223 | 220959339 | E069 | 22655 |
chr1 | 220923190 | 220923886 | E070 | -12682 |
chr1 | 220924002 | 220924069 | E070 | -12499 |
chr1 | 220924196 | 220924295 | E070 | -12273 |
chr1 | 220924566 | 220924756 | E070 | -11812 |
chr1 | 220924760 | 220924925 | E070 | -11643 |
chr1 | 220959223 | 220959339 | E070 | 22655 |
chr1 | 220961418 | 220961855 | E070 | 24850 |
chr1 | 220905971 | 220906038 | E071 | -30530 |
chr1 | 220924002 | 220924069 | E071 | -12499 |
chr1 | 220924196 | 220924295 | E071 | -12273 |
chr1 | 220924566 | 220924756 | E071 | -11812 |
chr1 | 220981535 | 220981750 | E071 | 44967 |
chr1 | 220949983 | 220950398 | E072 | 13415 |
chr1 | 220961418 | 220961855 | E072 | 24850 |
chr1 | 220964754 | 220964899 | E072 | 28186 |
chr1 | 220964957 | 220965020 | E072 | 28389 |
chr1 | 220906086 | 220907026 | E073 | -29542 |
chr1 | 220924002 | 220924069 | E073 | -12499 |
chr1 | 220924196 | 220924295 | E073 | -12273 |
chr1 | 220924566 | 220924756 | E073 | -11812 |
chr1 | 220924760 | 220924925 | E073 | -11643 |
chr1 | 220924968 | 220925018 | E073 | -11550 |
chr1 | 220925119 | 220925171 | E073 | -11397 |
chr1 | 220964754 | 220964899 | E073 | 28186 |
chr1 | 220964957 | 220965020 | E073 | 28389 |
chr1 | 220959223 | 220959339 | E074 | 22655 |
chr1 | 220905971 | 220906038 | E081 | -30530 |
chr1 | 220924196 | 220924295 | E081 | -12273 |
chr1 | 220924566 | 220924756 | E081 | -11812 |
chr1 | 220924760 | 220924925 | E081 | -11643 |
chr1 | 220924968 | 220925018 | E081 | -11550 |
chr1 | 220925119 | 220925171 | E081 | -11397 |
chr1 | 220925374 | 220925452 | E081 | -11116 |
chr1 | 220949983 | 220950398 | E081 | 13415 |
chr1 | 220950424 | 220950489 | E081 | 13856 |
chr1 | 220959223 | 220959339 | E081 | 22655 |
chr1 | 220961418 | 220961855 | E081 | 24850 |
chr1 | 220964365 | 220964585 | E081 | 27797 |
chr1 | 220964754 | 220964899 | E081 | 28186 |
chr1 | 220964957 | 220965020 | E081 | 28389 |
chr1 | 220920704 | 220920768 | E082 | -15800 |
chr1 | 220924566 | 220924756 | E082 | -11812 |
chr1 | 220924760 | 220924925 | E082 | -11643 |
chr1 | 220924968 | 220925018 | E082 | -11550 |
chr1 | 220925119 | 220925171 | E082 | -11397 |
chr1 | 220925374 | 220925452 | E082 | -11116 |
chr1 | 220958994 | 220959094 | E082 | 22426 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr1 | 220920901 | 220922731 | E067 | -13837 |
chr1 | 220959444 | 220961072 | E067 | 22876 |
chr1 | 220920901 | 220922731 | E068 | -13837 |
chr1 | 220959444 | 220961072 | E068 | 22876 |
chr1 | 220920901 | 220922731 | E069 | -13837 |
chr1 | 220959444 | 220961072 | E069 | 22876 |
chr1 | 220920901 | 220922731 | E070 | -13837 |
chr1 | 220959444 | 220961072 | E070 | 22876 |
chr1 | 220920901 | 220922731 | E071 | -13837 |
chr1 | 220959444 | 220961072 | E071 | 22876 |
chr1 | 220920901 | 220922731 | E072 | -13837 |
chr1 | 220959444 | 220961072 | E072 | 22876 |
chr1 | 220920901 | 220922731 | E073 | -13837 |
chr1 | 220959444 | 220961072 | E073 | 22876 |
chr1 | 220920901 | 220922731 | E074 | -13837 |
chr1 | 220959444 | 220961072 | E074 | 22876 |
chr1 | 220920901 | 220922731 | E082 | -13837 |
chr1 | 220959444 | 220961072 | E082 | 22876 |