rs864622488
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 |
(G;T) | 5.8 | STK11 gene mutation associated with Peutz-Jeghers syndrome |
Make rs864622488(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 19 |
Position | 1222987 |
Gene | STK11 |
is a | snp |
is | mentioned by |
dbSNP | rs864622488 |
dbSNP (classic) | rs864622488 |
ClinGen | rs864622488 |
ebi | rs864622488 |
HLI | rs864622488 |
Exac | rs864622488 |
Gnomad | rs864622488 |
Varsome | rs864622488 |
LitVar | rs864622488 |
Map | rs864622488 |
PheGenI | rs864622488 |
Biobank | rs864622488 |
1000 genomes | rs864622488 |
hgdp | rs864622488 |
ensembl | rs864622488 |
geneview | rs864622488 |
scholar | rs864622488 |
rs864622488 | |
pharmgkb | rs864622488 |
gwascentral | rs864622488 |
openSNP | rs864622488 |
23andMe | rs864622488 |
SNPshot | rs864622488 |
SNPdbe | rs864622488 |
MSV3d | rs864622488 |
GWAS Ctlg | rs864622488 |
Max Magnitude | 5.8 |
ClinVar | |
---|---|
Risk | rs864622488(T;T) |
Alt | rs864622488(T;T) |
Reference | Rs864622488(G;G) |
Significance | Probable-Pathogenic |
Disease | Peutz-Jeghers syndrome |
Variation | info |
Gene | STK11 |
CLNDBN | Peutz-Jeghers syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.1222986G>T |
CLNSRC | |
CLNACC | RCV000205568.1, |