rs398123405
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 5.8 | STK11 gene mutation associated with Peutz-Jeghers syndrome |
Make rs398123405(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 1221963 |
Gene | STK11 |
is a | snp |
is | mentioned by |
dbSNP | rs398123405 |
dbSNP (classic) | rs398123405 |
ClinGen | rs398123405 |
ebi | rs398123405 |
HLI | rs398123405 |
Exac | rs398123405 |
Gnomad | rs398123405 |
Varsome | rs398123405 |
LitVar | rs398123405 |
Map | rs398123405 |
PheGenI | rs398123405 |
Biobank | rs398123405 |
1000 genomes | rs398123405 |
hgdp | rs398123405 |
ensembl | rs398123405 |
geneview | rs398123405 |
scholar | rs398123405 |
rs398123405 | |
pharmgkb | rs398123405 |
gwascentral | rs398123405 |
openSNP | rs398123405 |
23andMe | rs398123405 |
SNPshot | rs398123405 |
SNPdbe | rs398123405 |
MSV3d | rs398123405 |
GWAS Ctlg | rs398123405 |
Max Magnitude | 5.8 |
ClinVar | |
---|---|
Risk | rs398123405(A;A) rs398123405(T;T) |
Alt | rs398123405(A;A) rs398123405(T;T) |
Reference | Rs398123405(G;G) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome |
Variation | info |
Gene | STK11 |
CLNDBN | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.1221962G>A; NC_000019.9:g.1221962G>T |
CLNSRC | Ambry Genetics ClinVar Emory University |
CLNACC | RCV000131978.2, RCV000078913.4, |