rs137854584
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 5.8 | STK11 gene mutation associated with Peutz-Jeghers syndrome |
Make rs137854584(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 1207082 |
Gene | STK11 |
is a | snp |
is | mentioned by |
dbSNP | rs137854584 |
dbSNP (classic) | rs137854584 |
ClinGen | rs137854584 |
ebi | rs137854584 |
HLI | rs137854584 |
Exac | rs137854584 |
Gnomad | rs137854584 |
Varsome | rs137854584 |
LitVar | rs137854584 |
Map | rs137854584 |
PheGenI | rs137854584 |
Biobank | rs137854584 |
1000 genomes | rs137854584 |
hgdp | rs137854584 |
ensembl | rs137854584 |
geneview | rs137854584 |
scholar | rs137854584 |
rs137854584 | |
pharmgkb | rs137854584 |
gwascentral | rs137854584 |
openSNP | rs137854584 |
23andMe | rs137854584 |
SNPshot | rs137854584 |
SNPdbe | rs137854584 |
MSV3d | rs137854584 |
GWAS Ctlg | rs137854584 |
Max Magnitude | 5.8 |
c.169G>T (p.Glu57Ter)
23andMe name: i5006535
ClinVar | |
---|---|
Risk | rs137854584(T;T) |
Alt | rs137854584(T;T) |
Reference | Rs137854584(G;G) |
Significance | Pathogenic |
Disease | Peutz-Jeghers syndrome |
Variation | info |
Gene | STK11 |
CLNDBN | Peutz-Jeghers syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.1207081G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007873.4, |