rs137853077
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 5.8 | STK11 gene mutation associated with Peutz-Jeghers syndrome |
(T;T) | 0 | common in clinvar |
Make rs137853077(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 1207113 |
Gene | STK11 |
is a | snp |
is | mentioned by |
dbSNP | rs137853077 |
dbSNP (classic) | rs137853077 |
ClinGen | rs137853077 |
ebi | rs137853077 |
HLI | rs137853077 |
Exac | rs137853077 |
Gnomad | rs137853077 |
Varsome | rs137853077 |
LitVar | rs137853077 |
Map | rs137853077 |
PheGenI | rs137853077 |
Biobank | rs137853077 |
1000 genomes | rs137853077 |
hgdp | rs137853077 |
ensembl | rs137853077 |
geneview | rs137853077 |
scholar | rs137853077 |
rs137853077 | |
pharmgkb | rs137853077 |
gwascentral | rs137853077 |
openSNP | rs137853077 |
23andMe | rs137853077 |
SNPshot | rs137853077 |
SNPdbe | rs137853077 |
MSV3d | rs137853077 |
GWAS Ctlg | rs137853077 |
Max Magnitude | 5.8 |
c.200T>C (p.Leu67Pro)
23andMe name: i5006534
ClinVar | |
---|---|
Risk | rs137853077(C;C) |
Alt | rs137853077(C;C) |
Reference | Rs137853077(T;T) |
Significance | Other |
Disease | Peutz-Jeghers syndrome not provided Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | STK11 |
CLNDBN | Peutz-Jeghers syndrome not provided Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.1207112T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007871.5, RCV000440305.1, RCV000492681.1, |