Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 3 | NC_000003.12:g.51440166G>A |
GRCh37.p13 chr 3 fix patch HG186_PATCH | NW_003315910.1:g.61489G>A |
GRCh37.p13 chr 3 | NC_000003.11:g.51474182G>A |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
DCAF1 transcript variant 2 | NM_001171904.1:c. | N/A | Intron Variant |
DCAF1 transcript variant 1 | NM_014703.2:c. | N/A | Intron Variant |
VPRBP transcript variant X10 | XM_005276753.4:c. | N/A | Intron Variant |
VPRBP transcript variant X9 | XM_005276755.4:c. | N/A | Intron Variant |
VPRBP transcript variant X3 | XM_011534273.2:c. | N/A | Intron Variant |
VPRBP transcript variant X2 | XM_011534274.2:c. | N/A | Intron Variant |
VPRBP transcript variant X7 | XM_011534275.2:c. | N/A | Intron Variant |
VPRBP transcript variant X6 | XM_011534276.2:c. | N/A | Intron Variant |
VPRBP transcript variant X1 | XM_011534277.2:c. | N/A | Intron Variant |
VPRBP transcript variant X4 | XM_017007546.1:c. | N/A | Intron Variant |
VPRBP transcript variant X5 | XM_017007547.1:c. | N/A | Intron Variant |
VPRBP transcript variant X8 | XM_017007548.1:c. | N/A | Intron Variant |
VPRBP transcript variant X11 | XM_017007549.1:c. | N/A | Intron Variant |
VPRBP transcript variant X12 | XM_017007550.1:c. | N/A | Intron Variant |
VPRBP transcript variant X16 | XM_017007551.1:c. | N/A | Intron Variant |
VPRBP transcript variant X13 | XR_001740385.1:n. | N/A | Intron Variant |
VPRBP transcript variant X14 | XR_001740386.1:n. | N/A | Intron Variant |
VPRBP transcript variant X15 | XR_001740387.1:n. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | G=0.885 | A=0.115 |
1000Genomes | American | Sub | 694 | G=0.760 | A=0.240 |
1000Genomes | East Asian | Sub | 1008 | G=0.647 | A=0.353 |
1000Genomes | Europe | Sub | 1006 | G=0.980 | A=0.020 |
1000Genomes | Global | Study-wide | 5008 | G=0.852 | A=0.148 |
1000Genomes | South Asian | Sub | 978 | G=0.960 | A=0.040 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.981 | A=0.019 |
The Exome Aggregation Consortium | American | Sub | 20804 | G=0.738 | A=0.261 |
The Exome Aggregation Consortium | Asian | Sub | 24396 | G=0.858 | A=0.141 |
The Exome Aggregation Consortium | Europe | Sub | 71478 | G=0.979 | A=0.020 |
The Exome Aggregation Consortium | Global | Study-wide | 117546 | G=0.911 | A=0.088 |
The Exome Aggregation Consortium | Other | Sub | 868 | G=0.940 | A=0.060 |
The Genome Aggregation Database | African | Sub | 8728 | G=0.908 | A=0.092 |
The Genome Aggregation Database | American | Sub | 838 | G=0.640 | A=0.360 |
The Genome Aggregation Database | East Asian | Sub | 1604 | G=0.658 | A=0.342 |
The Genome Aggregation Database | Europe | Sub | 18484 | G=0.977 | A=0.023 |
The Genome Aggregation Database | Global | Study-wide | 29956 | G=0.930 | A=0.069 |
The Genome Aggregation Database | Other | Sub | 302 | G=0.980 | A=0.020 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.916 | A=0.083 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.986 | A=0.014 |
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 |
---|---|---|---|
rs17712228 | 0.000137 | 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 ) |
---|---|---|---|---|
chr3 | 104810 | 105451 | E067 | 43321 |
chr3 | 104810 | 105451 | E069 | 43321 |
chr3 | 105525 | 105633 | E069 | 44036 |
chr3 | 104810 | 105451 | E071 | 43321 |
chr3 | 105525 | 105633 | E071 | 44036 |
chr3 | 105525 | 105633 | E072 | 44036 |
chr3 | 84315 | 84369 | E081 | 22826 |
chr3 | 86105 | 86168 | E081 | 24616 |
chr3 | 104810 | 105451 | E081 | 43321 |
chr3 | 105525 | 105633 | E081 | 44036 |
chr3 | 84315 | 84369 | E082 | 22826 |
chr3 | 104810 | 105451 | E082 | 43321 |
chr3 | 105525 | 105633 | E082 | 44036 |