rs869312780
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;AG) | 6.3 | Cowden syndrome |
(AG;AG) | 0 | common in clinvar |
Make rs869312780(-;-) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 10 |
Position | 87957985 |
Gene | PTEN |
is a | snp |
is | mentioned by |
dbSNP | rs869312780 |
dbSNP (classic) | rs869312780 |
ClinGen | rs869312780 |
ebi | rs869312780 |
HLI | rs869312780 |
Exac | rs869312780 |
Gnomad | rs869312780 |
Varsome | rs869312780 |
LitVar | rs869312780 |
Map | rs869312780 |
PheGenI | rs869312780 |
Biobank | rs869312780 |
1000 genomes | rs869312780 |
hgdp | rs869312780 |
ensembl | rs869312780 |
geneview | rs869312780 |
scholar | rs869312780 |
rs869312780 | |
pharmgkb | rs869312780 |
gwascentral | rs869312780 |
openSNP | rs869312780 |
23andMe | rs869312780 |
SNPshot | rs869312780 |
SNPdbe | rs869312780 |
MSV3d | rs869312780 |
GWAS Ctlg | rs869312780 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs869312780(-;-) |
Alt | rs869312780(-;-) |
Reference | Rs869312780(AG;AG) |
Significance | Pathogenic |
Disease | Cowden syndrome |
Variation | info |
Gene | PTEN |
CLNDBN | Cowden syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.89717742_89717743delAG |
CLNSRC | |
CLNACC | RCV000210138.1, |