rs587776671
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;A) | 6.3 | Cowden syndrome |
Make rs587776671(A;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 87864509 |
Gene | KLLN, PTEN |
is a | snp |
is | mentioned by |
dbSNP | rs587776671 |
dbSNP (classic) | rs587776671 |
ClinGen | rs587776671 |
ebi | rs587776671 |
HLI | rs587776671 |
Exac | rs587776671 |
Gnomad | rs587776671 |
Varsome | rs587776671 |
LitVar | rs587776671 |
Map | rs587776671 |
PheGenI | rs587776671 |
Biobank | rs587776671 |
1000 genomes | rs587776671 |
hgdp | rs587776671 |
ensembl | rs587776671 |
geneview | rs587776671 |
scholar | rs587776671 |
rs587776671 | |
pharmgkb | rs587776671 |
gwascentral | rs587776671 |
openSNP | rs587776671 |
23andMe | rs587776671 |
SNPshot | rs587776671 |
SNPdbe | rs587776671 |
MSV3d | rs587776671 |
GWAS Ctlg | rs587776671 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs587776671(A;A) |
Alt | rs587776671(A;A) |
Reference | Rs587776671(-;-) |
Significance | Pathogenic |
Disease | Cowden syndrome 1 |
Variation | info |
Gene | PTEN LOC101929706 KLLN |
CLNDBN | Cowden syndrome 1 |
Reversed | 0 |
HGVS | NC_000010.10:g.89624266dupA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008282.3, |