Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 2 | NC_000002.12:g.62530420G>A |
GRCh37.p13 chr 2 | NC_000002.11:g.62757555G>A |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
TMEM17 transcript | NM_198276.2:c. | N/A | Genic Upstream Transcript Variant |
TMEM17 transcript variant X1 | XM_017003575.1:c. | N/A | Intron Variant |
TMEM17 transcript variant X3 | XM_011532693.2:c. | N/A | Genic Upstream Transcript Variant |
TMEM17 transcript variant X4 | XM_011532694.2:c. | N/A | Genic Upstream Transcript Variant |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
LOC105374764 transcript variant X1 | XR_001739094.1:n. | N/A | Intron Variant |
LOC105374764 transcript variant X3 | XR_001739095.1:n. | N/A | Genic Downstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | G=0.977 | A=0.023 |
1000Genomes | American | Sub | 694 | G=0.910 | A=0.090 |
1000Genomes | East Asian | Sub | 1008 | G=0.791 | A=0.209 |
1000Genomes | Europe | Sub | 1006 | G=0.880 | A=0.120 |
1000Genomes | Global | Study-wide | 5008 | G=0.888 | A=0.112 |
1000Genomes | South Asian | Sub | 978 | G=0.860 | A=0.140 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.873 | A=0.127 |
The Genome Aggregation Database | African | Sub | 8726 | G=0.960 | A=0.040 |
The Genome Aggregation Database | American | Sub | 838 | G=0.900 | A=0.100 |
The Genome Aggregation Database | East Asian | Sub | 1610 | G=0.779 | A=0.221 |
The Genome Aggregation Database | Europe | Sub | 18488 | G=0.863 | A=0.136 |
The Genome Aggregation Database | Global | Study-wide | 29964 | G=0.888 | A=0.111 |
The Genome Aggregation Database | Other | Sub | 302 | G=0.940 | A=0.060 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29116 | G=0.923 | A=0.076 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.875 | A=0.125 |
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 |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs1997247 | 9.7E-07 | 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 ) |
---|---|---|---|---|
chr2 | 62716134 | 62716649 | E067 | -40906 |
chr2 | 62712869 | 62713852 | E068 | -43703 |
chr2 | 62805015 | 62806761 | E068 | 47460 |
chr2 | 62716134 | 62716649 | E069 | -40906 |
chr2 | 62712869 | 62713852 | E070 | -43703 |
chr2 | 62756861 | 62756911 | E070 | -644 |
chr2 | 62712869 | 62713852 | E071 | -43703 |
chr2 | 62716134 | 62716649 | E071 | -40906 |
chr2 | 62731997 | 62732049 | E071 | -25506 |
chr2 | 62732068 | 62732179 | E071 | -25376 |
chr2 | 62755073 | 62755424 | E071 | -2131 |
chr2 | 62715981 | 62716103 | E072 | -41452 |
chr2 | 62716134 | 62716649 | E072 | -40906 |
chr2 | 62716134 | 62716649 | E074 | -40906 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr2 | 62732213 | 62733986 | E067 | -23569 |
chr2 | 62797988 | 62798117 | E067 | 40433 |
chr2 | 62798127 | 62798669 | E067 | 40572 |
chr2 | 62732213 | 62733986 | E068 | -23569 |
chr2 | 62797988 | 62798117 | E068 | 40433 |
chr2 | 62798127 | 62798669 | E068 | 40572 |
chr2 | 62732213 | 62733986 | E069 | -23569 |
chr2 | 62732213 | 62733986 | E070 | -23569 |
chr2 | 62797988 | 62798117 | E070 | 40433 |
chr2 | 62798127 | 62798669 | E070 | 40572 |
chr2 | 62732213 | 62733986 | E071 | -23569 |
chr2 | 62732213 | 62733986 | E072 | -23569 |
chr2 | 62797988 | 62798117 | E072 | 40433 |
chr2 | 62798127 | 62798669 | E072 | 40572 |
chr2 | 62732213 | 62733986 | E073 | -23569 |
chr2 | 62732213 | 62733986 | E074 | -23569 |
chr2 | 62732213 | 62733986 | E082 | -23569 |
chr2 | 62797988 | 62798117 | E082 | 40433 |
chr2 | 62798127 | 62798669 | E082 | 40572 |