rs878853247
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 |
Make rs878853247(G;T) |
Make rs878853247(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 1220692 |
Gene | STK11 |
is a | snp |
is | mentioned by |
dbSNP | rs878853247 |
dbSNP (classic) | rs878853247 |
ClinGen | rs878853247 |
ebi | rs878853247 |
HLI | rs878853247 |
Exac | rs878853247 |
Gnomad | rs878853247 |
Varsome | rs878853247 |
LitVar | rs878853247 |
Map | rs878853247 |
PheGenI | rs878853247 |
Biobank | rs878853247 |
1000 genomes | rs878853247 |
hgdp | rs878853247 |
ensembl | rs878853247 |
geneview | rs878853247 |
scholar | rs878853247 |
rs878853247 | |
pharmgkb | rs878853247 |
gwascentral | rs878853247 |
openSNP | rs878853247 |
23andMe | rs878853247 |
SNPshot | rs878853247 |
SNPdbe | rs878853247 |
MSV3d | rs878853247 |
GWAS Ctlg | rs878853247 |
Max Magnitude | 5.8 |
ClinVar | |
---|---|
Risk | rs878853247(T;T) |
Alt | rs878853247(T;T) |
Reference | Rs878853247(G;G) |
Significance | Probable-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.1220691G>C; NC_000019.9:g.1220691G>T |
CLNSRC | |
CLNACC | RCV000492258.1, RCV000225068.1, |