rs786202134
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 5.8 | STK11 gene mutation associated with Peutz-Jeghers syndrome |
(C;C) | 0 | common in clinvar |
Make rs786202134(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 19 |
Position | 1220490 |
Gene | STK11 |
is a | snp |
is | mentioned by |
dbSNP | rs786202134 |
dbSNP (classic) | rs786202134 |
ClinGen | rs786202134 |
ebi | rs786202134 |
HLI | rs786202134 |
Exac | rs786202134 |
Gnomad | rs786202134 |
Varsome | rs786202134 |
LitVar | rs786202134 |
Map | rs786202134 |
PheGenI | rs786202134 |
Biobank | rs786202134 |
1000 genomes | rs786202134 |
hgdp | rs786202134 |
ensembl | rs786202134 |
geneview | rs786202134 |
scholar | rs786202134 |
rs786202134 | |
pharmgkb | rs786202134 |
gwascentral | rs786202134 |
openSNP | rs786202134 |
23andMe | rs786202134 |
SNPshot | rs786202134 |
SNPdbe | rs786202134 |
MSV3d | rs786202134 |
GWAS Ctlg | rs786202134 |
Max Magnitude | 5.8 |
ClinVar | |
---|---|
Risk | rs786202134(A;A) rs786202134(G;G) rs786202134(T;T) |
Alt | rs786202134(A;A) rs786202134(G;G) rs786202134(T;T) |
Reference | Rs786202134(C;C) |
Significance | Probable-Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Pancreatic Neoplasms |
Variation | info |
Gene | STK11 |
CLNDBN | Hereditary cancer-predisposing syndrome Pancreatic Neoplasms |
Reversed | 0 |
HGVS | NC_000019.9:g.1220489C>A; NC_000019.9:g.1220489C>G |
CLNSRC | |
CLNACC | RCV000164794.1, RCV000437423.1, RCV000418459.1, |