rs397518440
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;C) | 5.8 | STK11 gene mutation associated with Peutz-Jeghers syndrome |
(C;C) | 0 | common in clinvar |
Make rs397518440(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 1219367 |
Gene | STK11 |
is a | snp |
is | mentioned by |
dbSNP | rs397518440 |
dbSNP (classic) | rs397518440 |
ClinGen | rs397518440 |
ebi | rs397518440 |
HLI | rs397518440 |
Exac | rs397518440 |
Gnomad | rs397518440 |
Varsome | rs397518440 |
LitVar | rs397518440 |
Map | rs397518440 |
PheGenI | rs397518440 |
Biobank | rs397518440 |
1000 genomes | rs397518440 |
hgdp | rs397518440 |
ensembl | rs397518440 |
geneview | rs397518440 |
scholar | rs397518440 |
rs397518440 | |
pharmgkb | rs397518440 |
gwascentral | rs397518440 |
openSNP | rs397518440 |
23andMe | rs397518440 |
SNPshot | rs397518440 |
SNPdbe | rs397518440 |
MSV3d | rs397518440 |
GWAS Ctlg | rs397518440 |
Max Magnitude | 5.8 |
c.418delC (p.Leu140Trpfs)
ClinVar | |
---|---|
Risk | rs397518440(-;-) |
Alt | rs397518440(-;-) |
Reference | Rs397518440(C;C) |
Significance | Pathogenic |
Disease | Peutz-Jeghers syndrome Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | STK11 |
CLNDBN | Peutz-Jeghers syndrome Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.1219366delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007875.5, RCV000492134.1, |