rs397507490
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AAGACCATATCA;AAGACCATATCA) | 0 | common in clinvar |
(ACCATATCAAAG;ACCATATCAAAG) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs397507490(-;-) |
Make rs397507490(-;ACCATATCAAAG) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 119277825 |
Gene | CBL |
is a | snp |
is | mentioned by |
dbSNP | rs397507490 |
dbSNP (classic) | rs397507490 |
ClinGen | rs397507490 |
ebi | rs397507490 |
HLI | rs397507490 |
Exac | rs397507490 |
Gnomad | rs397507490 |
Varsome | rs397507490 |
LitVar | rs397507490 |
Map | rs397507490 |
PheGenI | rs397507490 |
Biobank | rs397507490 |
1000 genomes | rs397507490 |
hgdp | rs397507490 |
ensembl | rs397507490 |
geneview | rs397507490 |
scholar | rs397507490 |
rs397507490 | |
pharmgkb | rs397507490 |
gwascentral | rs397507490 |
openSNP | rs397507490 |
23andMe | rs397507490 |
SNPshot | rs397507490 |
SNPdbe | rs397507490 |
MSV3d | rs397507490 |
GWAS Ctlg | rs397507490 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397507490(-;-) |
Alt | rs397507490(-;-) |
Reference | Rs397507490(AAGACCATATCA;AAGACCATATCA) |
Significance | Pathogenic |
Disease | Rasopathy |
Variation | info |
Gene | CBL |
CLNDBN | Rasopathy |
Reversed | 0 |
HGVS | NC_000011.9:g.119148535_119148546delACCATATCAAAG |
CLNSRC | ClinVar |
CLNACC | RCV000033351.4, |