rs397507510
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397507510(C;C) |
Make rs397507510(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 112450361 |
Gene | PTPN11 |
is a | snp |
is | mentioned by |
dbSNP | rs397507510 |
dbSNP (classic) | rs397507510 |
ClinGen | rs397507510 |
ebi | rs397507510 |
HLI | rs397507510 |
Exac | rs397507510 |
Gnomad | rs397507510 |
Varsome | rs397507510 |
LitVar | rs397507510 |
Map | rs397507510 |
PheGenI | rs397507510 |
Biobank | rs397507510 |
1000 genomes | rs397507510 |
hgdp | rs397507510 |
ensembl | rs397507510 |
geneview | rs397507510 |
scholar | rs397507510 |
rs397507510 | |
pharmgkb | rs397507510 |
gwascentral | rs397507510 |
openSNP | rs397507510 |
23andMe | rs397507510 |
SNPshot | rs397507510 |
SNPdbe | rs397507510 |
MSV3d | rs397507510 |
GWAS Ctlg | rs397507510 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397507510(A;A) rs397507510(C;C) rs397507510(T;T) |
Alt | rs397507510(A;A) rs397507510(C;C) rs397507510(T;T) |
Reference | Rs397507510(G;G) |
Significance | Pathogenic |
Disease | Rasopathy not provided Juvenile myelomonocytic leukemia |
Variation | info |
Gene | PTPN11 |
CLNDBN | Rasopathy not provided Juvenile myelomonocytic leukemia |
Reversed | 0 |
HGVS | NC_000012.11:g.112888165G>A; NC_000012.11:g.112888165G>C; NC_000012.11:g.112888165G>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000033463.5, RCV000157678.1, RCV000033462.4, RCV000215649.1, |