rs768248216
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs768248216(A;A) |
Make rs768248216(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 14 |
Position | 95126651 |
Gene | DICER1 |
is a | snp |
is | mentioned by |
dbSNP | rs768248216 |
dbSNP (classic) | rs768248216 |
ClinGen | rs768248216 |
ebi | rs768248216 |
HLI | rs768248216 |
Exac | rs768248216 |
Gnomad | rs768248216 |
Varsome | rs768248216 |
LitVar | rs768248216 |
Map | rs768248216 |
PheGenI | rs768248216 |
Biobank | rs768248216 |
1000 genomes | rs768248216 |
hgdp | rs768248216 |
ensembl | rs768248216 |
geneview | rs768248216 |
scholar | rs768248216 |
rs768248216 | |
pharmgkb | rs768248216 |
gwascentral | rs768248216 |
openSNP | rs768248216 |
23andMe | rs768248216 |
SNPshot | rs768248216 |
SNPdbe | rs768248216 |
MSV3d | rs768248216 |
GWAS Ctlg | rs768248216 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs768248216(A;A) |
Alt | rs768248216(A;A) |
Reference | Rs768248216(G;G) |
Significance | Pathogenic |
Disease | DICER1-related pleuropulmonary blastoma cancer predisposition syndrome |
Variation | info |
Gene | DICER1 |
CLNDBN | DICER1-related pleuropulmonary blastoma cancer predisposition syndrome |
Reversed | 0 |
HGVS | NC_000014.8:g.95592988G>A |
CLNSRC | Children's Hospitals and Clinics of Minnesota |
CLNACC | RCV000240941.1, |