rs786201090
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 5.8 | STK11 gene mutation associated with Peutz-Jeghers syndrome |
Make rs786201090(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 19 |
Position | 1221996 |
Gene | STK11 |
is a | snp |
is | mentioned by |
dbSNP | rs786201090 |
dbSNP (classic) | rs786201090 |
ClinGen | rs786201090 |
ebi | rs786201090 |
HLI | rs786201090 |
Exac | rs786201090 |
Gnomad | rs786201090 |
Varsome | rs786201090 |
LitVar | rs786201090 |
Map | rs786201090 |
PheGenI | rs786201090 |
Biobank | rs786201090 |
1000 genomes | rs786201090 |
hgdp | rs786201090 |
ensembl | rs786201090 |
geneview | rs786201090 |
scholar | rs786201090 |
rs786201090 | |
pharmgkb | rs786201090 |
gwascentral | rs786201090 |
openSNP | rs786201090 |
23andMe | rs786201090 |
SNPshot | rs786201090 |
SNPdbe | rs786201090 |
MSV3d | rs786201090 |
GWAS Ctlg | rs786201090 |
Max Magnitude | 5.8 |
c.910C>T (p.Arg304Trp)
23andMe name: i6018846
ClinVar | |
---|---|
Risk | rs786201090(T;T) |
Alt | rs786201090(T;T) |
Reference | Rs786201090(C;C) |
Significance | Other |
Disease | Hereditary cancer-predisposing syndrome not provided Peutz-Jeghers syndrome |
Variation | info |
Gene | STK11 |
CLNDBN | Hereditary cancer-predisposing syndrome not provided Peutz-Jeghers syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.1221995C>T |
CLNSRC | |
CLNACC | RCV000162596.3, RCV000256082.2, RCV000435642.1, |