rs587776656
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;G) | 5.8 | STK11 gene mutation associated with Peutz-Jeghers syndrome |
(G;G) | 0 | common in clinvar |
Make rs587776656(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 19 |
Position | 1221321 |
Gene | STK11 |
is a | snp |
is | mentioned by |
dbSNP | rs587776656 |
dbSNP (classic) | rs587776656 |
ClinGen | rs587776656 |
ebi | rs587776656 |
HLI | rs587776656 |
Exac | rs587776656 |
Gnomad | rs587776656 |
Varsome | rs587776656 |
LitVar | rs587776656 |
Map | rs587776656 |
PheGenI | rs587776656 |
Biobank | rs587776656 |
1000 genomes | rs587776656 |
hgdp | rs587776656 |
ensembl | rs587776656 |
geneview | rs587776656 |
scholar | rs587776656 |
rs587776656 | |
pharmgkb | rs587776656 |
gwascentral | rs587776656 |
openSNP | rs587776656 |
23andMe | rs587776656 |
SNPshot | rs587776656 |
SNPdbe | rs587776656 |
MSV3d | rs587776656 |
GWAS Ctlg | rs587776656 |
Max Magnitude | 5.8 |
c.843delG (p.Leu282Serfs)
ClinVar | |
---|---|
Risk | rs587776656(-;-) |
Alt | rs587776656(-;-) |
Reference | Rs587776656(G;G) |
Significance | Pathogenic |
Disease | Peutz-Jeghers syndrome |
Variation | info |
Gene | STK11 |
CLNDBN | Peutz-Jeghers syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.1221320delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007866.3, |