rs587776898
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(G;G) | 0 | common in clinvar |
Make rs587776898(C;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 78997248 |
Gene | CANT1 |
is a | snp |
is | mentioned by |
dbSNP | rs587776898 |
dbSNP (classic) | rs587776898 |
ClinGen | rs587776898 |
ebi | rs587776898 |
HLI | rs587776898 |
Exac | rs587776898 |
Gnomad | rs587776898 |
Varsome | rs587776898 |
LitVar | rs587776898 |
Map | rs587776898 |
PheGenI | rs587776898 |
Biobank | rs587776898 |
1000 genomes | rs587776898 |
hgdp | rs587776898 |
ensembl | rs587776898 |
geneview | rs587776898 |
scholar | rs587776898 |
rs587776898 | |
pharmgkb | rs587776898 |
gwascentral | rs587776898 |
openSNP | rs587776898 |
23andMe | rs587776898 |
SNPshot | rs587776898 |
SNPdbe | rs587776898 |
MSV3d | rs587776898 |
GWAS Ctlg | rs587776898 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587776898(C;C) |
Alt | Rs587776898(C;C) |
Reference | Rs587776898(G;G) |
Significance | Pathogenic |
Disease | Desbuquois dysplasia 1 |
Variation | info |
Gene | CANT1 |
CLNDBN | Desbuquois dysplasia 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.76993330C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000024009.5, |