rs1057520379
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 5.8 | STK11 gene mutation associated with Peutz-Jeghers syndrome |
Make rs1057520379(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 1220694 |
Gene | STK11 |
is a | snp |
is | mentioned by |
dbSNP | rs1057520379 |
dbSNP (classic) | rs1057520379 |
ClinGen | rs1057520379 |
ebi | rs1057520379 |
HLI | rs1057520379 |
Exac | rs1057520379 |
Gnomad | rs1057520379 |
Varsome | rs1057520379 |
LitVar | rs1057520379 |
Map | rs1057520379 |
PheGenI | rs1057520379 |
Biobank | rs1057520379 |
1000 genomes | rs1057520379 |
hgdp | rs1057520379 |
ensembl | rs1057520379 |
geneview | rs1057520379 |
scholar | rs1057520379 |
rs1057520379 | |
pharmgkb | rs1057520379 |
gwascentral | rs1057520379 |
openSNP | rs1057520379 |
23andMe | rs1057520379 |
SNPshot | rs1057520379 |
SNPdbe | rs1057520379 |
MSV3d | rs1057520379 |
GWAS Ctlg | rs1057520379 |
Max Magnitude | 5.8 |
ClinVar | |
---|---|
Risk | rs1057520379(G;G) |
Alt | rs1057520379(G;G) |
Reference | Rs1057520379(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | STK11 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000019.9:g.1220693C>G |
CLNSRC | |
CLNACC | RCV000444772.1, |