rs587783058
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;A) | 6.3 | Cowden syndrome |
Make rs587783058(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 10 |
Position | 87961060 |
Gene | PTEN |
is a | snp |
is | mentioned by |
dbSNP | rs587783058 |
dbSNP (classic) | rs587783058 |
ClinGen | rs587783058 |
ebi | rs587783058 |
HLI | rs587783058 |
Exac | rs587783058 |
Gnomad | rs587783058 |
Varsome | rs587783058 |
LitVar | rs587783058 |
Map | rs587783058 |
PheGenI | rs587783058 |
Biobank | rs587783058 |
1000 genomes | rs587783058 |
hgdp | rs587783058 |
ensembl | rs587783058 |
geneview | rs587783058 |
scholar | rs587783058 |
rs587783058 | |
pharmgkb | rs587783058 |
gwascentral | rs587783058 |
openSNP | rs587783058 |
23andMe | rs587783058 |
SNPshot | rs587783058 |
SNPdbe | rs587783058 |
MSV3d | rs587783058 |
GWAS Ctlg | rs587783058 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs587783058(A;A) |
Alt | rs587783058(A;A) |
Reference | Rs587783058(-;-) |
Significance | Pathogenic |
Disease | Cowden syndrome 1 not provided |
Variation | info |
Gene | PTEN |
CLNDBN | Cowden syndrome 1 not provided |
Reversed | 0 |
HGVS | NC_000010.10:g.89720817dupA |
CLNSRC | |
CLNACC | RCV000144658.1, RCV000479366.1, |