rs587782187
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 6.3 | PTEN hamartoma tumor syndrome |
(G;T) | 6.3 | Cowden syndrome (PTEN hamartoma tumor syndrome) |
(T;T) | 0 | common in clinvar |
Make rs587782187(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 10 |
Position | 87864517 |
Gene | KLLN, PTEN |
is a | snp |
is | mentioned by |
dbSNP | rs587782187 |
dbSNP (classic) | rs587782187 |
ClinGen | rs587782187 |
ebi | rs587782187 |
HLI | rs587782187 |
Exac | rs587782187 |
Gnomad | rs587782187 |
Varsome | rs587782187 |
LitVar | rs587782187 |
Map | rs587782187 |
PheGenI | rs587782187 |
Biobank | rs587782187 |
1000 genomes | rs587782187 |
hgdp | rs587782187 |
ensembl | rs587782187 |
geneview | rs587782187 |
scholar | rs587782187 |
rs587782187 | |
pharmgkb | rs587782187 |
gwascentral | rs587782187 |
openSNP | rs587782187 |
23andMe | rs587782187 |
SNPshot | rs587782187 |
SNPdbe | rs587782187 |
MSV3d | rs587782187 |
GWAS Ctlg | rs587782187 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs587782187(A;A) rs587782187(C;C) |
Alt | rs587782187(A;A) rs587782187(C;C) |
Reference | Rs587782187(T;T) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome not provided PTEN hamartoma tumor syndrome not specified |
Variation | info |
Gene | PTEN LOC101929706 KLLN |
CLNDBN | Hereditary cancer-predisposing syndrome not provided PTEN hamartoma tumor syndrome not specified |
Reversed | 0 |
HGVS | NC_000010.10:g.89624274T>A; NC_000010.10:g.89624274T>C |
CLNSRC | |
CLNACC | RCV000130817.4, RCV000212878.1, RCV000477134.1, RCV000196280.1, RCV000429131.1, |