rs786203624
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;T) | 5.8 | STK11 gene mutation associated with Peutz-Jeghers syndrome |
(T;T) | 0 | common in clinvar |
Make rs786203624(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 19 |
Position | 1221985 |
Gene | STK11 |
is a | snp |
is | mentioned by |
dbSNP | rs786203624 |
dbSNP (classic) | rs786203624 |
ClinGen | rs786203624 |
ebi | rs786203624 |
HLI | rs786203624 |
Exac | rs786203624 |
Gnomad | rs786203624 |
Varsome | rs786203624 |
LitVar | rs786203624 |
Map | rs786203624 |
PheGenI | rs786203624 |
Biobank | rs786203624 |
1000 genomes | rs786203624 |
hgdp | rs786203624 |
ensembl | rs786203624 |
geneview | rs786203624 |
scholar | rs786203624 |
rs786203624 | |
pharmgkb | rs786203624 |
gwascentral | rs786203624 |
openSNP | rs786203624 |
23andMe | rs786203624 |
SNPshot | rs786203624 |
SNPdbe | rs786203624 |
MSV3d | rs786203624 |
GWAS Ctlg | rs786203624 |
Max Magnitude | 5.8 |
c.899delT (p.Ile300Thrfs)
ClinVar | |
---|---|
Risk | rs786203624(-;-) |
Alt | rs786203624(-;-) |
Reference | Rs786203624(T;T) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | STK11 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.1221984delT |
CLNSRC | |
CLNACC | RCV000167017.1, |