rs727504504
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs727504504(A;A) |
Make rs727504504(A;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 119278169 |
Gene | CBL |
is a | snp |
is | mentioned by |
dbSNP | rs727504504 |
dbSNP (classic) | rs727504504 |
ClinGen | rs727504504 |
ebi | rs727504504 |
HLI | rs727504504 |
Exac | rs727504504 |
Gnomad | rs727504504 |
Varsome | rs727504504 |
LitVar | rs727504504 |
Map | rs727504504 |
PheGenI | rs727504504 |
Biobank | rs727504504 |
1000 genomes | rs727504504 |
hgdp | rs727504504 |
ensembl | rs727504504 |
geneview | rs727504504 |
scholar | rs727504504 |
rs727504504 | |
pharmgkb | rs727504504 |
gwascentral | rs727504504 |
openSNP | rs727504504 |
23andMe | rs727504504 |
SNPshot | rs727504504 |
SNPdbe | rs727504504 |
MSV3d | rs727504504 |
GWAS Ctlg | rs727504504 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727504504(A;A) |
Alt | rs727504504(A;A) |
Reference | Rs727504504(C;C) |
Significance | Probable-Pathogenic |
Disease | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia |
Variation | info |
Gene | CBL |
CLNDBN | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia |
Reversed | 0 |
HGVS | NC_000011.9:g.119148879C>A |
CLNSRC | |
CLNACC | RCV000155642.2, |