rs376280361
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;G) | 5.8 | STK11 gene mutation associated with Peutz-Jeghers syndrome |
(G;G) | 0 | common in clinvar |
Make rs376280361(A;A) |
Make rs376280361(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 1221997 |
Gene | STK11 |
is a | snp |
is | mentioned by |
dbSNP | rs376280361 |
dbSNP (classic) | rs376280361 |
ClinGen | rs376280361 |
ebi | rs376280361 |
HLI | rs376280361 |
Exac | rs376280361 |
Gnomad | rs376280361 |
Varsome | rs376280361 |
LitVar | rs376280361 |
Map | rs376280361 |
PheGenI | rs376280361 |
Biobank | rs376280361 |
1000 genomes | rs376280361 |
hgdp | rs376280361 |
ensembl | rs376280361 |
geneview | rs376280361 |
scholar | rs376280361 |
rs376280361 | |
pharmgkb | rs376280361 |
gwascentral | rs376280361 |
openSNP | rs376280361 |
23andMe | rs376280361 |
SNPshot | rs376280361 |
SNPdbe | rs376280361 |
MSV3d | rs376280361 |
GWAS Ctlg | rs376280361 |
Max Magnitude | 5.8 |
c.911G>C (p.Arg304Pro)
23andMe name: i6018851
ClinVar | |
---|---|
Risk | rs376280361(A;A) |
Alt | rs376280361(A;A) |
Reference | Rs376280361(G;G) |
Significance | Pathogenic |
Disease | not specified Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | STK11 |
CLNDBN | not specified Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.1221996G>A; NC_000019.9:g.1221996G>C |
CLNSRC | |
CLNACC | RCV000479636.1, RCV000492320.1, |