Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 1 | NC_000001.11:g.63653244A>G |
GRCh37.p13 chr 1 | NC_000001.10:g.64118915A>G |
PGM1 RefSeqGene | NG_016966.1:g.64969A>G |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
PGM1 transcript variant 2 | NM_001172818.1:c. | N/A | Intron Variant |
PGM1 transcript variant 3 | NM_001172819.1:c. | N/A | Intron Variant |
PGM1 transcript variant 1 | NM_002633.2:c. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | A=0.607 | G=0.393 |
1000Genomes | American | Sub | 694 | A=0.590 | G=0.410 |
1000Genomes | East Asian | Sub | 1008 | A=0.794 | G=0.206 |
1000Genomes | Europe | Sub | 1006 | A=0.775 | G=0.225 |
1000Genomes | Global | Study-wide | 5008 | A=0.721 | G=0.279 |
1000Genomes | South Asian | Sub | 978 | A=0.830 | G=0.170 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.809 | G=0.191 |
The Genome Aggregation Database | African | Sub | 8714 | A=0.659 | G=0.341 |
The Genome Aggregation Database | American | Sub | 828 | A=0.610 | G=0.390 |
The Genome Aggregation Database | East Asian | Sub | 1610 | A=0.786 | G=0.214 |
The Genome Aggregation Database | Europe | Sub | 18490 | A=0.780 | G=0.219 |
The Genome Aggregation Database | Global | Study-wide | 29944 | A=0.741 | G=0.259 |
The Genome Aggregation Database | Other | Sub | 302 | A=0.780 | G=0.220 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | A=0.735 | G=0.264 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.817 | G=0.183 |
PMID | Title | Author | Journal |
---|---|---|---|
21665994 | Genome-wide association study identifies two loci strongly affecting transferrin glycosylation. | Kutalik Z | Hum Mol Genet |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs2269235 | 3.45E-08 | alcohol consumption | 21665994 |
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 | 64078376 | 64078513 | E067 | -40402 |
chr1 | 64078704 | 64079142 | E067 | -39773 |
chr1 | 64088634 | 64089292 | E067 | -29623 |
chr1 | 64078376 | 64078513 | E068 | -40402 |
chr1 | 64081448 | 64081915 | E068 | -37000 |
chr1 | 64082007 | 64082105 | E068 | -36810 |
chr1 | 64088634 | 64089292 | E068 | -29623 |
chr1 | 64139986 | 64141001 | E068 | 21071 |
chr1 | 64078376 | 64078513 | E069 | -40402 |
chr1 | 64078704 | 64079142 | E069 | -39773 |
chr1 | 64081448 | 64081915 | E069 | -37000 |
chr1 | 64082007 | 64082105 | E069 | -36810 |
chr1 | 64156823 | 64156888 | E069 | 37908 |
chr1 | 64157137 | 64157261 | E069 | 38222 |
chr1 | 64163403 | 64163697 | E069 | 44488 |
chr1 | 64163884 | 64164427 | E069 | 44969 |
chr1 | 64165152 | 64165382 | E069 | 46237 |
chr1 | 64108723 | 64108792 | E070 | -10123 |
chr1 | 64108901 | 64108951 | E070 | -9964 |
chr1 | 64108983 | 64109138 | E070 | -9777 |
chr1 | 64111546 | 64111722 | E070 | -7193 |
chr1 | 64081448 | 64081915 | E071 | -37000 |
chr1 | 64082007 | 64082105 | E071 | -36810 |
chr1 | 64082217 | 64082363 | E071 | -36552 |
chr1 | 64139986 | 64141001 | E071 | 21071 |
chr1 | 64163203 | 64163347 | E071 | 44288 |
chr1 | 64163403 | 64163697 | E071 | 44488 |
chr1 | 64165152 | 64165382 | E071 | 46237 |
chr1 | 64088634 | 64089292 | E072 | -29623 |
chr1 | 64089607 | 64090320 | E072 | -28595 |
chr1 | 64101428 | 64101659 | E072 | -17256 |
chr1 | 64102053 | 64102103 | E072 | -16812 |
chr1 | 64160611 | 64160818 | E072 | 41696 |
chr1 | 64160918 | 64161040 | E072 | 42003 |
chr1 | 64161077 | 64161221 | E072 | 42162 |
chr1 | 64163203 | 64163347 | E072 | 44288 |
chr1 | 64163403 | 64163697 | E072 | 44488 |
chr1 | 64163884 | 64164427 | E072 | 44969 |
chr1 | 64081448 | 64081915 | E073 | -37000 |
chr1 | 64082007 | 64082105 | E073 | -36810 |
chr1 | 64082007 | 64082105 | E074 | -36810 |
chr1 | 64082217 | 64082363 | E074 | -36552 |
chr1 | 64088634 | 64089292 | E074 | -29623 |
chr1 | 64091772 | 64091822 | E074 | -27093 |
chr1 | 64139986 | 64141001 | E074 | 21071 |
chr1 | 64082007 | 64082105 | E081 | -36810 |
chr1 | 64082217 | 64082363 | E081 | -36552 |
chr1 | 64086499 | 64086636 | E081 | -32279 |
chr1 | 64086834 | 64087062 | E081 | -31853 |
chr1 | 64087157 | 64087315 | E081 | -31600 |
chr1 | 64087461 | 64087721 | E081 | -31194 |
chr1 | 64088634 | 64089292 | E081 | -29623 |
chr1 | 64090756 | 64090893 | E081 | -28022 |
chr1 | 64090914 | 64091024 | E081 | -27891 |
chr1 | 64109343 | 64110000 | E081 | -8915 |
chr1 | 64139986 | 64141001 | E081 | 21071 |
chr1 | 64141023 | 64142025 | E081 | 22108 |
chr1 | 64082007 | 64082105 | E082 | -36810 |
chr1 | 64082217 | 64082363 | E082 | -36552 |
chr1 | 64086499 | 64086636 | E082 | -32279 |
chr1 | 64086834 | 64087062 | E082 | -31853 |
chr1 | 64087157 | 64087315 | E082 | -31600 |
chr1 | 64087461 | 64087721 | E082 | -31194 |
chr1 | 64108901 | 64108951 | E082 | -9964 |
chr1 | 64108983 | 64109138 | E082 | -9777 |
chr1 | 64109343 | 64110000 | E082 | -8915 |
chr1 | 64111546 | 64111722 | E082 | -7193 |
chr1 | 64141023 | 64142025 | E082 | 22108 |