rs767601069
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs767601069(-;-) |
Make rs767601069(-;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 78997345 |
Gene | CANT1 |
is a | snp |
is | mentioned by |
dbSNP | rs767601069 |
dbSNP (classic) | rs767601069 |
ClinGen | rs767601069 |
ebi | rs767601069 |
HLI | rs767601069 |
Exac | rs767601069 |
Gnomad | rs767601069 |
Varsome | rs767601069 |
LitVar | rs767601069 |
Map | rs767601069 |
PheGenI | rs767601069 |
Biobank | rs767601069 |
1000 genomes | rs767601069 |
hgdp | rs767601069 |
ensembl | rs767601069 |
geneview | rs767601069 |
scholar | rs767601069 |
rs767601069 | |
pharmgkb | rs767601069 |
gwascentral | rs767601069 |
openSNP | rs767601069 |
23andMe | rs767601069 |
SNPshot | rs767601069 |
SNPdbe | rs767601069 |
MSV3d | rs767601069 |
GWAS Ctlg | rs767601069 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs767601069(-;-) |
Alt | rs767601069(-;-) |
Reference | Rs767601069(A;A) |
Significance | Pathogenic |
Disease | Desbuquois dysplasia 1 |
Variation | info |
Gene | CANT1 |
CLNDBN | Desbuquois dysplasia 1 |
Reversed | 0 |
HGVS | NC_000017.10:g.76993427delA |
CLNSRC | |
CLNACC | RCV000175968.1, |