rs121913321
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;C) | 5.8 | STK11 gene mutation associated with Peutz-Jeghers syndrome |
(C;C) | 0 | common in clinvar |
Make rs121913321(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 1221320 |
Gene | STK11 |
is a | snp |
is | mentioned by |
dbSNP | rs121913321 |
dbSNP (classic) | rs121913321 |
ClinGen | rs121913321 |
ebi | rs121913321 |
HLI | rs121913321 |
Exac | rs121913321 |
Gnomad | rs121913321 |
Varsome | rs121913321 |
LitVar | rs121913321 |
Map | rs121913321 |
PheGenI | rs121913321 |
Biobank | rs121913321 |
1000 genomes | rs121913321 |
hgdp | rs121913321 |
ensembl | rs121913321 |
geneview | rs121913321 |
scholar | rs121913321 |
rs121913321 | |
pharmgkb | rs121913321 |
gwascentral | rs121913321 |
openSNP | rs121913321 |
23andMe | rs121913321 |
SNPshot | rs121913321 |
SNPdbe | rs121913321 |
MSV3d | rs121913321 |
GWAS Ctlg | rs121913321 |
Max Magnitude | 5.8 |
c.842delC (p.Pro281Argfs)
ClinVar | |
---|---|
Risk | rs121913321(-;-) |
Alt | rs121913321(-;-) |
Reference | Rs121913321(C;C) |
Significance | Pathogenic |
Disease | Peutz-Jeghers syndrome |
Variation | info |
Gene | STK11 |
CLNDBN | Peutz-Jeghers syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.1221319delC |
CLNSRC | |
CLNACC | RCV000172825.3, |