rs397516810
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs397516810(G;G) |
Make rs397516810(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 112477652 |
Gene | PTPN11 |
is a | snp |
is | mentioned by |
dbSNP | rs397516810 |
dbSNP (classic) | rs397516810 |
ClinGen | rs397516810 |
ebi | rs397516810 |
HLI | rs397516810 |
Exac | rs397516810 |
Gnomad | rs397516810 |
Varsome | rs397516810 |
LitVar | rs397516810 |
Map | rs397516810 |
PheGenI | rs397516810 |
Biobank | rs397516810 |
1000 genomes | rs397516810 |
hgdp | rs397516810 |
ensembl | rs397516810 |
geneview | rs397516810 |
scholar | rs397516810 |
rs397516810 | |
pharmgkb | rs397516810 |
gwascentral | rs397516810 |
openSNP | rs397516810 |
23andMe | rs397516810 |
SNPshot | rs397516810 |
SNPdbe | rs397516810 |
MSV3d | rs397516810 |
GWAS Ctlg | rs397516810 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516810(G;G) |
Alt | rs397516810(G;G) |
Reference | Rs397516810(T;T) |
Significance | Pathogenic |
Disease | Noonan syndrome not provided |
Variation | info |
Gene | PTPN11 |
CLNDBN | Noonan syndrome not provided |
Reversed | 0 |
HGVS | NC_000012.11:g.112915456T>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000037665.2, RCV000159052.3, |