rs786200991
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;G) | 5.8 | STK11 gene mutation associated with Peutz-Jeghers syndrome |
Make rs786200991(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 19 |
Position | 1223052 |
Gene | STK11 |
is a | snp |
is | mentioned by |
dbSNP | rs786200991 |
dbSNP (classic) | rs786200991 |
ClinGen | rs786200991 |
ebi | rs786200991 |
HLI | rs786200991 |
Exac | rs786200991 |
Gnomad | rs786200991 |
Varsome | rs786200991 |
LitVar | rs786200991 |
Map | rs786200991 |
PheGenI | rs786200991 |
Biobank | rs786200991 |
1000 genomes | rs786200991 |
hgdp | rs786200991 |
ensembl | rs786200991 |
geneview | rs786200991 |
scholar | rs786200991 |
rs786200991 | |
pharmgkb | rs786200991 |
gwascentral | rs786200991 |
openSNP | rs786200991 |
23andMe | rs786200991 |
SNPshot | rs786200991 |
SNPdbe | rs786200991 |
MSV3d | rs786200991 |
GWAS Ctlg | rs786200991 |
Max Magnitude | 5.8 |
ClinVar | |
---|---|
Risk | rs786200991(G;G) |
Alt | rs786200991(G;G) |
Reference | Rs786200991(-;-) |
Significance | Pathogenic |
Disease | Peutz-Jeghers syndrome |
Variation | info |
Gene | STK11 |
CLNDBN | Peutz-Jeghers syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.1223051dupG |
CLNSRC | |
CLNACC | RCV000153995.3, |