Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 3 | NC_000003.12:g.55921186G>A |
GRCh37.p13 chr 3 | NC_000003.11:g.55955214G>A |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
ERC2 transcript variant 1 | NM_015576.2:c. | N/A | Intron Variant |
ERC2 transcript variant 2 | NR_132749.1:n. | N/A | Intron Variant |
ERC2 transcript variant X1 | XM_017006138.1:c. | N/A | Intron Variant |
ERC2 transcript variant X2 | XM_017006139.1:c. | N/A | Intron Variant |
ERC2 transcript variant X3 | XM_017006140.1:c. | N/A | Intron Variant |
ERC2 transcript variant X4 | XM_017006141.1:c. | N/A | Intron Variant |
ERC2 transcript variant X6 | XM_017006142.1:c. | N/A | Intron Variant |
ERC2 transcript variant X7 | XM_017006143.1:c. | N/A | Intron Variant |
ERC2 transcript variant X8 | XM_017006144.1:c. | N/A | Intron Variant |
ERC2 transcript variant X9 | XM_017006145.1:c. | N/A | Intron Variant |
ERC2 transcript variant X10 | XM_017006146.1:c. | N/A | Intron Variant |
ERC2 transcript variant X11 | XM_017006147.1:c. | N/A | Intron Variant |
ERC2 transcript variant X12 | XM_017006148.1:c. | N/A | Intron Variant |
ERC2 transcript variant X13 | XM_017006149.1:c. | N/A | Intron Variant |
ERC2 transcript variant X14 | XM_017006150.1:c. | N/A | Intron Variant |
ERC2 transcript variant X15 | XM_017006151.1:c. | N/A | Intron Variant |
ERC2 transcript variant X16 | XM_017006152.1:c. | N/A | Intron Variant |
ERC2 transcript variant X17 | XM_017006153.1:c. | N/A | Intron Variant |
ERC2 transcript variant X18 | XM_017006154.1:c. | N/A | Intron Variant |
ERC2 transcript variant X19 | XM_017006155.1:c. | N/A | Intron Variant |
ERC2 transcript variant X20 | XM_017006156.1:c. | N/A | Intron Variant |
ERC2 transcript variant X21 | XM_017006157.1:c. | N/A | Intron Variant |
ERC2 transcript variant X22 | XM_017006158.1:c. | N/A | Intron Variant |
ERC2 transcript variant X23 | XM_017006159.1:c. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | G=0.836 | A=0.164 |
1000Genomes | American | Sub | 694 | G=0.700 | A=0.300 |
1000Genomes | East Asian | Sub | 1008 | G=0.759 | A=0.241 |
1000Genomes | Europe | Sub | 1006 | G=0.614 | A=0.386 |
1000Genomes | Global | Study-wide | 5008 | G=0.720 | A=0.280 |
1000Genomes | South Asian | Sub | 978 | G=0.650 | A=0.350 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.658 | A=0.342 |
The Genome Aggregation Database | African | Sub | 8712 | G=0.820 | A=0.180 |
The Genome Aggregation Database | American | Sub | 836 | G=0.730 | A=0.270 |
The Genome Aggregation Database | East Asian | Sub | 1584 | G=0.772 | A=0.228 |
The Genome Aggregation Database | Europe | Sub | 18470 | G=0.597 | A=0.402 |
The Genome Aggregation Database | Global | Study-wide | 29900 | G=0.675 | A=0.324 |
The Genome Aggregation Database | Other | Sub | 298 | G=0.630 | A=0.370 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.722 | A=0.277 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.659 | A=0.341 |
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 |
---|---|---|---|
rs17288603 | 0.000782 | 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 | 55922479 | 55922547 | E067 | -32667 |
chr3 | 55922624 | 55922734 | E067 | -32480 |
chr3 | 55922479 | 55922547 | E068 | -32667 |
chr3 | 55922624 | 55922734 | E068 | -32480 |
chr3 | 55923631 | 55923681 | E068 | -31533 |
chr3 | 55922479 | 55922547 | E069 | -32667 |
chr3 | 55922624 | 55922734 | E069 | -32480 |
chr3 | 55930370 | 55930478 | E070 | -24736 |
chr3 | 55930982 | 55931056 | E070 | -24158 |
chr3 | 55931059 | 55931318 | E070 | -23896 |
chr3 | 55931509 | 55931646 | E070 | -23568 |
chr3 | 55931708 | 55931925 | E070 | -23289 |
chr3 | 55932119 | 55932213 | E070 | -23001 |
chr3 | 55941240 | 55941426 | E070 | -13788 |
chr3 | 55941707 | 55942178 | E070 | -13036 |
chr3 | 55922479 | 55922547 | E071 | -32667 |
chr3 | 55922624 | 55922734 | E071 | -32480 |
chr3 | 55923631 | 55923681 | E071 | -31533 |
chr3 | 55922479 | 55922547 | E073 | -32667 |
chr3 | 55922624 | 55922734 | E073 | -32480 |
chr3 | 55921955 | 55921995 | E074 | -33219 |
chr3 | 55922479 | 55922547 | E074 | -32667 |
chr3 | 55922624 | 55922734 | E074 | -32480 |
chr3 | 55909206 | 55909481 | E081 | -45733 |
chr3 | 55909776 | 55909853 | E081 | -45361 |