rs20572
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs20572(C;C) |
Make rs20572(C;T) |
Make rs20572(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 21 |
Position | 36072675 |
Gene | CBR1, LOC100133286 |
is a | snp |
is | mentioned by |
dbSNP | rs20572 |
dbSNP (classic) | rs20572 |
ClinGen | rs20572 |
ebi | rs20572 |
HLI | rs20572 |
Exac | rs20572 |
Gnomad | rs20572 |
Varsome | rs20572 |
LitVar | rs20572 |
Map | rs20572 |
PheGenI | rs20572 |
Biobank | rs20572 |
1000 genomes | rs20572 |
hgdp | rs20572 |
ensembl | rs20572 |
geneview | rs20572 |
scholar | rs20572 |
rs20572 | |
pharmgkb | rs20572 |
gwascentral | rs20572 |
openSNP | rs20572 |
23andMe | rs20572 |
SNPshot | rs20572 |
SNPdbe | rs20572 |
MSV3d | rs20572 |
GWAS Ctlg | rs20572 |
GMAF | 0.129 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 12958705] Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spine.
[PMID 17267408] Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.
[PMID 17344335] A functional genetic polymorphism on human carbonyl reductase 1 (CBR1 V88I) impacts on catalytic activity and NADPH binding affinity.