rs869025574
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TGA;TGA) | 0 | common in clinvar |
Make rs869025574(-;-) |
Make rs869025574(-;GAT) |
Make rs869025574(GAT;GAT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 112450361 |
Gene | PTPN11 |
is a | snp |
is | mentioned by |
dbSNP | rs869025574 |
dbSNP (classic) | rs869025574 |
ClinGen | rs869025574 |
ebi | rs869025574 |
HLI | rs869025574 |
Exac | rs869025574 |
Gnomad | rs869025574 |
Varsome | rs869025574 |
LitVar | rs869025574 |
Map | rs869025574 |
PheGenI | rs869025574 |
Biobank | rs869025574 |
1000 genomes | rs869025574 |
hgdp | rs869025574 |
ensembl | rs869025574 |
geneview | rs869025574 |
scholar | rs869025574 |
rs869025574 | |
pharmgkb | rs869025574 |
gwascentral | rs869025574 |
openSNP | rs869025574 |
23andMe | rs869025574 |
SNPshot | rs869025574 |
SNPdbe | rs869025574 |
MSV3d | rs869025574 |
GWAS Ctlg | rs869025574 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869025574(-;-) |
Alt | rs869025574(-;-) |
Reference | Rs869025574(TGA;TGA) |
Significance | Pathogenic |
Disease | Noonan syndrome 1 |
Variation | info |
Gene | PTPN11 |
CLNDBN | Noonan syndrome 1 |
Reversed | 0 |
HGVS | NC_000012.11:g.112888165_112888167delGAT |
CLNSRC | |
CLNACC | RCV000208567.1, |