rs71647806
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs71647806(C;G) |
Make rs71647806(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 89776730 |
Gene | MESP2 |
is a | snp |
is | mentioned by |
dbSNP | rs71647806 |
dbSNP (classic) | rs71647806 |
ClinGen | rs71647806 |
ebi | rs71647806 |
HLI | rs71647806 |
Exac | rs71647806 |
Gnomad | rs71647806 |
Varsome | rs71647806 |
LitVar | rs71647806 |
Map | rs71647806 |
PheGenI | rs71647806 |
Biobank | rs71647806 |
1000 genomes | rs71647806 |
hgdp | rs71647806 |
ensembl | rs71647806 |
geneview | rs71647806 |
scholar | rs71647806 |
rs71647806 | |
pharmgkb | rs71647806 |
gwascentral | rs71647806 |
openSNP | rs71647806 |
23andMe | rs71647806 |
SNPshot | rs71647806 |
SNPdbe | rs71647806 |
MSV3d | rs71647806 |
GWAS Ctlg | rs71647806 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs71647806(G;G) |
Alt | rs71647806(G;G) |
Reference | Rs71647806(C;C) |
Significance | Pathogenic |
Disease | Spondylocostal dysostosis 2 |
Variation | info |
Gene | MESP2 |
CLNDBN | Spondylocostal dysostosis 2 |
Reversed | 0 |
HGVS | NC_000015.9:g.90319961C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005494.6, |
[PMID 23274712] Genetic polymorphisms and the risk of myocardial infarction in patients under 45 years of age.