rs864622387
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;TAAAGACAAA) | 6.3 | PTEN hamartoma tumor syndrome |
Make rs864622387(TAAAGACAAA;TAAAGACAAA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 87961088 |
Gene | PTEN |
is a | snp |
is | mentioned by |
dbSNP | rs864622387 |
dbSNP (classic) | rs864622387 |
ClinGen | rs864622387 |
ebi | rs864622387 |
HLI | rs864622387 |
Exac | rs864622387 |
Gnomad | rs864622387 |
Varsome | rs864622387 |
LitVar | rs864622387 |
Map | rs864622387 |
PheGenI | rs864622387 |
Biobank | rs864622387 |
1000 genomes | rs864622387 |
hgdp | rs864622387 |
ensembl | rs864622387 |
geneview | rs864622387 |
scholar | rs864622387 |
rs864622387 | |
pharmgkb | rs864622387 |
gwascentral | rs864622387 |
openSNP | rs864622387 |
23andMe | rs864622387 |
SNPshot | rs864622387 |
SNPdbe | rs864622387 |
MSV3d | rs864622387 |
GWAS Ctlg | rs864622387 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs864622387(CAAATAAAGA;CAAATAAAGA) |
Alt | rs864622387(CAAATAAAGA;CAAATAAAGA) |
Reference | Rs864622387(-;-) |
Significance | Pathogenic |
Disease | PTEN hamartoma tumor syndrome |
Variation | info |
Gene | PTEN |
CLNDBN | PTEN hamartoma tumor syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.89720836_89720845dupTAAAGACAAA |
CLNSRC | |
CLNACC | RCV000206864.1, |