rs730881970
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 5.8 | STK11 gene mutation associated with Peutz-Jeghers syndrome |
Make rs730881970(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 1219358 |
Gene | STK11 |
is a | snp |
is | mentioned by |
dbSNP | rs730881970 |
dbSNP (classic) | rs730881970 |
ClinGen | rs730881970 |
ebi | rs730881970 |
HLI | rs730881970 |
Exac | rs730881970 |
Gnomad | rs730881970 |
Varsome | rs730881970 |
LitVar | rs730881970 |
Map | rs730881970 |
PheGenI | rs730881970 |
Biobank | rs730881970 |
1000 genomes | rs730881970 |
hgdp | rs730881970 |
ensembl | rs730881970 |
geneview | rs730881970 |
scholar | rs730881970 |
rs730881970 | |
pharmgkb | rs730881970 |
gwascentral | rs730881970 |
openSNP | rs730881970 |
23andMe | rs730881970 |
SNPshot | rs730881970 |
SNPdbe | rs730881970 |
MSV3d | rs730881970 |
GWAS Ctlg | rs730881970 |
Max Magnitude | 5.8 |
c.409C>T (p.Gln137Ter)
23andMe name: i6018866
ClinVar | |
---|---|
Risk | rs730881970(A;A) rs730881970(T;T) |
Alt | rs730881970(A;A) rs730881970(T;T) |
Reference | Rs730881970(C;C) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | STK11 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.1219357C>A; NC_000019.9:g.1219357C>T |
CLNSRC | |
CLNACC | RCV000164582.1, RCV000492356.1, |