rs864622707
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;T) | 5.8 | STK11 gene mutation associated with Peutz-Jeghers syndrome |
(T;T) | 0 | common in clinvar |
Make rs864622707(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 19 |
Position | 1219343 |
Gene | STK11 |
is a | snp |
is | mentioned by |
dbSNP | rs864622707 |
dbSNP (classic) | rs864622707 |
ClinGen | rs864622707 |
ebi | rs864622707 |
HLI | rs864622707 |
Exac | rs864622707 |
Gnomad | rs864622707 |
Varsome | rs864622707 |
LitVar | rs864622707 |
Map | rs864622707 |
PheGenI | rs864622707 |
Biobank | rs864622707 |
1000 genomes | rs864622707 |
hgdp | rs864622707 |
ensembl | rs864622707 |
geneview | rs864622707 |
scholar | rs864622707 |
rs864622707 | |
pharmgkb | rs864622707 |
gwascentral | rs864622707 |
openSNP | rs864622707 |
23andMe | rs864622707 |
SNPshot | rs864622707 |
SNPdbe | rs864622707 |
MSV3d | rs864622707 |
GWAS Ctlg | rs864622707 |
Max Magnitude | 5.8 |
c.394delT (p.Cys132Alafs)
23andMe name: i723234
ClinVar | |
---|---|
Risk | rs864622707(-;-) |
Alt | rs864622707(-;-) |
Reference | Rs864622707(T;T) |
Significance | Pathogenic |
Disease | Peutz-Jeghers syndrome |
Variation | info |
Gene | STK11 |
CLNDBN | Peutz-Jeghers syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.1219342delT |
CLNSRC | |
CLNACC | RCV000205945.1, |