rs398123324
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs398123324(G;T) |
Make rs398123324(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 10 |
Position | 87864513 |
Gene | KLLN, PTEN |
is a | snp |
is | mentioned by |
dbSNP | rs398123324 |
dbSNP (classic) | rs398123324 |
ClinGen | rs398123324 |
ebi | rs398123324 |
HLI | rs398123324 |
Exac | rs398123324 |
Gnomad | rs398123324 |
Varsome | rs398123324 |
LitVar | rs398123324 |
Map | rs398123324 |
PheGenI | rs398123324 |
Biobank | rs398123324 |
1000 genomes | rs398123324 |
hgdp | rs398123324 |
ensembl | rs398123324 |
geneview | rs398123324 |
scholar | rs398123324 |
rs398123324 | |
pharmgkb | rs398123324 |
gwascentral | rs398123324 |
openSNP | rs398123324 |
23andMe | rs398123324 |
SNPshot | rs398123324 |
SNPdbe | rs398123324 |
MSV3d | rs398123324 |
GWAS Ctlg | rs398123324 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123324(A;A) rs398123324(C;C) rs398123324(T;T) |
Alt | rs398123324(A;A) rs398123324(C;C) rs398123324(T;T) |
Reference | Rs398123324(G;G) |
Significance | Probable-Pathogenic |
Disease | PTEN hamartoma tumor syndrome not provided Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | PTEN LOC101929706 KLLN |
CLNDBN | PTEN hamartoma tumor syndrome not provided Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.89624270G>A; NC_000010.10:g.89624270G>C; NC_000010.10:g.89624270G>T |
CLNSRC | |
CLNACC | RCV000462758.1, RCV000480861.1, RCV000491951.1, RCV000078618.3, |