rs587782424
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;TG) | 5.8 | STK11 gene mutation associated with Peutz-Jeghers syndrome |
(GT;GT) | 0 | common in clinvar |
Make rs587782424(-;-) |
Make rs587782424(-;GT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 1219346 |
Gene | STK11 |
is a | snp |
is | mentioned by |
dbSNP | rs587782424 |
dbSNP (classic) | rs587782424 |
ClinGen | rs587782424 |
ebi | rs587782424 |
HLI | rs587782424 |
Exac | rs587782424 |
Gnomad | rs587782424 |
Varsome | rs587782424 |
LitVar | rs587782424 |
Map | rs587782424 |
PheGenI | rs587782424 |
Biobank | rs587782424 |
1000 genomes | rs587782424 |
hgdp | rs587782424 |
ensembl | rs587782424 |
geneview | rs587782424 |
scholar | rs587782424 |
rs587782424 | |
pharmgkb | rs587782424 |
gwascentral | rs587782424 |
openSNP | rs587782424 |
23andMe | rs587782424 |
SNPshot | rs587782424 |
SNPdbe | rs587782424 |
MSV3d | rs587782424 |
GWAS Ctlg | rs587782424 |
Merged from | Rs730881985 |
Max Magnitude | 5.8 |
ClinVar | |
---|---|
Risk | rs587782424(-;-) rs587782424(TG;TG) |
Alt | rs587782424(-;-) rs587782424(TG;TG) |
Reference | Rs587782424(GT;GT) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | STK11 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.1219350_1219351delTG |
CLNSRC | |
CLNACC | RCV000161008.2, |