rs786204864
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6.3 | Bannayan-Riley-Ruvalcaba syndrome |
Make rs786204864(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 87952136 |
Gene | PTEN |
is a | snp |
is | mentioned by |
dbSNP | rs786204864 |
dbSNP (classic) | rs786204864 |
ClinGen | rs786204864 |
ebi | rs786204864 |
HLI | rs786204864 |
Exac | rs786204864 |
Gnomad | rs786204864 |
Varsome | rs786204864 |
LitVar | rs786204864 |
Map | rs786204864 |
PheGenI | rs786204864 |
Biobank | rs786204864 |
1000 genomes | rs786204864 |
hgdp | rs786204864 |
ensembl | rs786204864 |
geneview | rs786204864 |
scholar | rs786204864 |
rs786204864 | |
pharmgkb | rs786204864 |
gwascentral | rs786204864 |
openSNP | rs786204864 |
23andMe | rs786204864 |
SNPshot | rs786204864 |
SNPdbe | rs786204864 |
MSV3d | rs786204864 |
GWAS Ctlg | rs786204864 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs786204864(T;T) |
Alt | rs786204864(T;T) |
Reference | Rs786204864(C;C) |
Significance | Pathogenic |
Disease | not provided PTEN hamartoma tumor syndrome Bannayan-Riley-Ruvalcaba syndrome Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | PTEN |
CLNDBN | not provided PTEN hamartoma tumor syndrome Bannayan-Riley-Ruvalcaba syndrome Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.89711893C>T |
CLNSRC | |
CLNACC | RCV000169804.2, RCV000233297.1, RCV000330369.1, RCV000491520.1, |