rs863224448
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 rs863224448(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 19 |
Position | 1221948 |
Gene | STK11 |
is a | snp |
is | mentioned by |
dbSNP | rs863224448 |
dbSNP (classic) | rs863224448 |
ClinGen | rs863224448 |
ebi | rs863224448 |
HLI | rs863224448 |
Exac | rs863224448 |
Gnomad | rs863224448 |
Varsome | rs863224448 |
LitVar | rs863224448 |
Map | rs863224448 |
PheGenI | rs863224448 |
Biobank | rs863224448 |
1000 genomes | rs863224448 |
hgdp | rs863224448 |
ensembl | rs863224448 |
geneview | rs863224448 |
scholar | rs863224448 |
rs863224448 | |
pharmgkb | rs863224448 |
gwascentral | rs863224448 |
openSNP | rs863224448 |
23andMe | rs863224448 |
SNPshot | rs863224448 |
SNPdbe | rs863224448 |
MSV3d | rs863224448 |
GWAS Ctlg | rs863224448 |
Max Magnitude | 5.8 |
ClinVar | |
---|---|
Risk | rs863224448(A;A) |
Alt | rs863224448(A;A) |
Reference | Rs863224448(G;G) |
Significance | Probable-Pathogenic |
Disease | Peutz-Jeghers syndrome |
Variation | info |
Gene | STK11 |
CLNDBN | Peutz-Jeghers syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.1221947G>A |
CLNSRC | |
CLNACC | RCV000196256.1, |