rs730881959
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;GCAGGAGGGCCGT) | 5.8 | STK11 gene mutation associated with Peutz-Jeghers syndrome |
(GCAGGAGGGCCGT;GCAGGAGGGCCGT) | 0 | common/normal |
(GTGCAGGAGGGCC;GTGCAGGAGGGCC) | 0 | common in clinvar |
Make rs730881959(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 1207131 |
Gene | STK11 |
is a | snp |
is | mentioned by |
dbSNP | rs730881959 |
dbSNP (classic) | rs730881959 |
ClinGen | rs730881959 |
ebi | rs730881959 |
HLI | rs730881959 |
Exac | rs730881959 |
Gnomad | rs730881959 |
Varsome | rs730881959 |
LitVar | rs730881959 |
Map | rs730881959 |
PheGenI | rs730881959 |
Biobank | rs730881959 |
1000 genomes | rs730881959 |
hgdp | rs730881959 |
ensembl | rs730881959 |
geneview | rs730881959 |
scholar | rs730881959 |
rs730881959 | |
pharmgkb | rs730881959 |
gwascentral | rs730881959 |
openSNP | rs730881959 |
23andMe | rs730881959 |
SNPshot | rs730881959 |
SNPdbe | rs730881959 |
MSV3d | rs730881959 |
GWAS Ctlg | rs730881959 |
Max Magnitude | 5.8 |
ClinVar | |
---|---|
Risk | rs730881959(-;-) |
Alt | rs730881959(-;-) |
Reference | Rs730881959(GTGCAGGAGGGCC;GTGCAGGAGGGCC) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | STK11 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.1207130_1207142delGCAGGAGGGCCGT |
CLNSRC | |
CLNACC | RCV000160968.1, |