rs113994157
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs113994157(A;T) |
Make rs113994157(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 89776742 |
Gene | MESP2 |
is a | snp |
is | mentioned by |
dbSNP | rs113994157 |
dbSNP (classic) | rs113994157 |
ClinGen | rs113994157 |
ebi | rs113994157 |
HLI | rs113994157 |
Exac | rs113994157 |
Gnomad | rs113994157 |
Varsome | rs113994157 |
LitVar | rs113994157 |
Map | rs113994157 |
PheGenI | rs113994157 |
Biobank | rs113994157 |
1000 genomes | rs113994157 |
hgdp | rs113994157 |
ensembl | rs113994157 |
geneview | rs113994157 |
scholar | rs113994157 |
rs113994157 | |
pharmgkb | rs113994157 |
gwascentral | rs113994157 |
openSNP | rs113994157 |
23andMe | rs113994157 |
SNPshot | rs113994157 |
SNPdbe | rs113994157 |
MSV3d | rs113994157 |
GWAS Ctlg | rs113994157 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113994157(G;G) rs113994157(T;T) |
Alt | rs113994157(G;G) rs113994157(T;T) |
Reference | Rs113994157(A;A) |
Significance | Pathogenic |
Disease | Spondylocostal dysostosis 2 |
Variation | info |
Gene | MESP2 |
CLNDBN | Spondylocostal dysostosis 2 |
Reversed | 0 |
HGVS | NC_000015.9:g.90319973A>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000032157.1, |