rs587782018
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;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 rs587782018(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 1220718 |
Gene | STK11 |
is a | snp |
is | mentioned by |
dbSNP | rs587782018 |
dbSNP (classic) | rs587782018 |
ClinGen | rs587782018 |
ebi | rs587782018 |
HLI | rs587782018 |
Exac | rs587782018 |
Gnomad | rs587782018 |
Varsome | rs587782018 |
LitVar | rs587782018 |
Map | rs587782018 |
PheGenI | rs587782018 |
Biobank | rs587782018 |
1000 genomes | rs587782018 |
hgdp | rs587782018 |
ensembl | rs587782018 |
geneview | rs587782018 |
scholar | rs587782018 |
rs587782018 | |
pharmgkb | rs587782018 |
gwascentral | rs587782018 |
openSNP | rs587782018 |
23andMe | rs587782018 |
SNPshot | rs587782018 |
SNPdbe | rs587782018 |
MSV3d | rs587782018 |
GWAS Ctlg | rs587782018 |
Max Magnitude | 5.8 |
ClinVar | |
---|---|
Risk | rs587782018(T;T) |
Alt | rs587782018(T;T) |
Reference | Rs587782018(G;G) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | STK11 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.1220717G>C; NC_000019.9:g.1220717G>T |
CLNSRC | |
CLNACC | RCV000492482.1, RCV000130447.2, |