rs113994158
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs113994158(-;ACCG) |
Make rs113994158(ACCG;ACCG) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 89776860 |
Gene | MESP2 |
is a | snp |
is | mentioned by |
dbSNP | rs113994158 |
dbSNP (classic) | rs113994158 |
ClinGen | rs113994158 |
ebi | rs113994158 |
HLI | rs113994158 |
Exac | rs113994158 |
Gnomad | rs113994158 |
Varsome | rs113994158 |
LitVar | rs113994158 |
Map | rs113994158 |
PheGenI | rs113994158 |
Biobank | rs113994158 |
1000 genomes | rs113994158 |
hgdp | rs113994158 |
ensembl | rs113994158 |
geneview | rs113994158 |
scholar | rs113994158 |
rs113994158 | |
pharmgkb | rs113994158 |
gwascentral | rs113994158 |
openSNP | rs113994158 |
23andMe | rs113994158 |
SNPshot | rs113994158 |
SNPdbe | rs113994158 |
MSV3d | rs113994158 |
GWAS Ctlg | rs113994158 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113994158(CCGA;CCGA) |
Alt | rs113994158(CCGA;CCGA) |
Reference | Rs113994158(-;-) |
Significance | Pathogenic |
Disease | Spondylocostal dysostosis 2 |
Variation | info |
Gene | MESP2 |
CLNDBN | Spondylocostal dysostosis 2 |
Reversed | 0 |
HGVS | NC_000015.9:g.90320088_90320091dupACCG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005492.5, |