rs397507508
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GTGA;GTGA) | 0 | common in clinvar |
Make rs397507508(GTGA;T) |
Make rs397507508(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 112450359 |
Gene | PTPN11 |
is a | snp |
is | mentioned by |
dbSNP | rs397507508 |
dbSNP (classic) | rs397507508 |
ClinGen | rs397507508 |
ebi | rs397507508 |
HLI | rs397507508 |
Exac | rs397507508 |
Gnomad | rs397507508 |
Varsome | rs397507508 |
LitVar | rs397507508 |
Map | rs397507508 |
PheGenI | rs397507508 |
Biobank | rs397507508 |
1000 genomes | rs397507508 |
hgdp | rs397507508 |
ensembl | rs397507508 |
geneview | rs397507508 |
scholar | rs397507508 |
rs397507508 | |
pharmgkb | rs397507508 |
gwascentral | rs397507508 |
openSNP | rs397507508 |
23andMe | rs397507508 |
SNPshot | rs397507508 |
SNPdbe | rs397507508 |
MSV3d | rs397507508 |
GWAS Ctlg | rs397507508 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397507508(T;T) |
Alt | rs397507508(T;T) |
Reference | Rs397507508(GTGA;GTGA) |
Significance | Pathogenic |
Disease | Rasopathy |
Variation | info |
Gene | PTPN11 |
CLNDBN | Rasopathy |
Reversed | 0 |
HGVS | NC_000012.11:g.112888163_112888166delGTGAinsT |
CLNSRC | ClinVar |
CLNACC | RCV000033460.2, |