rs267606704
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs267606704(A;C) |
Make rs267606704(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 119278170 |
Gene | CBL |
is a | snp |
is | mentioned by |
dbSNP | rs267606704 |
dbSNP (classic) | rs267606704 |
ClinGen | rs267606704 |
ebi | rs267606704 |
HLI | rs267606704 |
Exac | rs267606704 |
Gnomad | rs267606704 |
Varsome | rs267606704 |
LitVar | rs267606704 |
Map | rs267606704 |
PheGenI | rs267606704 |
Biobank | rs267606704 |
1000 genomes | rs267606704 |
hgdp | rs267606704 |
ensembl | rs267606704 |
geneview | rs267606704 |
scholar | rs267606704 |
rs267606704 | |
pharmgkb | rs267606704 |
gwascentral | rs267606704 |
openSNP | rs267606704 |
23andMe | rs267606704 |
SNPshot | rs267606704 |
SNPdbe | rs267606704 |
MSV3d | rs267606704 |
GWAS Ctlg | rs267606704 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606704(C;C) rs267606704(G;G) |
Alt | rs267606704(C;C) rs267606704(G;G) |
Reference | Rs267606704(A;A) |
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.119148880A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014818.22, RCV000033352.3, |