rs397517076
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397517076(C;C) |
Make rs397517076(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 119278165 |
Gene | CBL |
is a | snp |
is | mentioned by |
dbSNP | rs397517076 |
dbSNP (classic) | rs397517076 |
ClinGen | rs397517076 |
ebi | rs397517076 |
HLI | rs397517076 |
Exac | rs397517076 |
Gnomad | rs397517076 |
Varsome | rs397517076 |
LitVar | rs397517076 |
Map | rs397517076 |
PheGenI | rs397517076 |
Biobank | rs397517076 |
1000 genomes | rs397517076 |
hgdp | rs397517076 |
ensembl | rs397517076 |
geneview | rs397517076 |
scholar | rs397517076 |
rs397517076 | |
pharmgkb | rs397517076 |
gwascentral | rs397517076 |
openSNP | rs397517076 |
23andMe | rs397517076 |
SNPshot | rs397517076 |
SNPdbe | rs397517076 |
MSV3d | rs397517076 |
GWAS Ctlg | rs397517076 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397517076(C;C) rs397517076(T;T) |
Alt | rs397517076(C;C) rs397517076(T;T) |
Reference | Rs397517076(G;G) |
Significance | Pathogenic |
Disease | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia not provided |
Variation | info |
Gene | CBL |
CLNDBN | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.119148875G>C; NC_000011.9:g.119148875G>T |
CLNSRC | ClinVar |
CLNACC | RCV000038346.2, RCV000157858.2, RCV000217231.1, |