rs730881979
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5.8 | STK11 gene mutation associated with Peutz-Jeghers syndrome |
(G;G) | 0 | common in clinvar |
Make rs730881979(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 1220434 |
Gene | STK11 |
is a | snp |
is | mentioned by |
dbSNP | rs730881979 |
dbSNP (classic) | rs730881979 |
ClinGen | rs730881979 |
ebi | rs730881979 |
HLI | rs730881979 |
Exac | rs730881979 |
Gnomad | rs730881979 |
Varsome | rs730881979 |
LitVar | rs730881979 |
Map | rs730881979 |
PheGenI | rs730881979 |
Biobank | rs730881979 |
1000 genomes | rs730881979 |
hgdp | rs730881979 |
ensembl | rs730881979 |
geneview | rs730881979 |
scholar | rs730881979 |
rs730881979 | |
pharmgkb | rs730881979 |
gwascentral | rs730881979 |
openSNP | rs730881979 |
23andMe | rs730881979 |
SNPshot | rs730881979 |
SNPdbe | rs730881979 |
MSV3d | rs730881979 |
GWAS Ctlg | rs730881979 |
Max Magnitude | 5.8 |
ClinVar | |
---|---|
Risk | rs730881979(A;A) |
Alt | rs730881979(A;A) |
Reference | Rs730881979(G;G) |
Significance | Probable-Pathogenic |
Disease | Peutz-Jeghers syndrome |
Variation | info |
Gene | STK11 |
CLNDBN | Peutz-Jeghers syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.1220433G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000429467.1, |