rs1057517830
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5.8 | STK11 gene mutation associated with Peutz-Jeghers syndrome |
(G;G) | 0 | common in clinvar |
Make rs1057517830(A;A) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 1221212 |
Gene | STK11 |
is a | snp |
is | mentioned by |
dbSNP | rs1057517830 |
dbSNP (classic) | rs1057517830 |
ClinGen | rs1057517830 |
ebi | rs1057517830 |
HLI | rs1057517830 |
Exac | rs1057517830 |
Gnomad | rs1057517830 |
Varsome | rs1057517830 |
LitVar | rs1057517830 |
Map | rs1057517830 |
PheGenI | rs1057517830 |
Biobank | rs1057517830 |
1000 genomes | rs1057517830 |
hgdp | rs1057517830 |
ensembl | rs1057517830 |
geneview | rs1057517830 |
scholar | rs1057517830 |
rs1057517830 | |
pharmgkb | rs1057517830 |
gwascentral | rs1057517830 |
openSNP | rs1057517830 |
23andMe | rs1057517830 |
SNPshot | rs1057517830 |
SNPdbe | rs1057517830 |
MSV3d | rs1057517830 |
GWAS Ctlg | rs1057517830 |
Max Magnitude | 5.8 |
ClinVar | |
---|---|
Risk | rs1057517830(A;A) |
Alt | rs1057517830(A;A) |
Reference | Rs1057517830(G;G) |
Significance | Pathogenic |
Disease | not provided Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | STK11 |
CLNDBN | not provided Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.1221211G>A |
CLNSRC | |
CLNACC | RCV000413399.1, RCV000492178.1, |