rs1060501195
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1060501195(C;C) |
Make rs1060501195(C;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 7676056 |
Gene | TP53 |
is a | snp |
is | mentioned by |
dbSNP | rs1060501195 |
dbSNP (classic) | rs1060501195 |
ClinGen | rs1060501195 |
ebi | rs1060501195 |
HLI | rs1060501195 |
Exac | rs1060501195 |
Gnomad | rs1060501195 |
Varsome | rs1060501195 |
LitVar | rs1060501195 |
Map | rs1060501195 |
PheGenI | rs1060501195 |
Biobank | rs1060501195 |
1000 genomes | rs1060501195 |
hgdp | rs1060501195 |
ensembl | rs1060501195 |
geneview | rs1060501195 |
scholar | rs1060501195 |
rs1060501195 | |
pharmgkb | rs1060501195 |
gwascentral | rs1060501195 |
openSNP | rs1060501195 |
23andMe | rs1060501195 |
SNPshot | rs1060501195 |
SNPdbe | rs1060501195 |
MSV3d | rs1060501195 |
GWAS Ctlg | rs1060501195 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060501195(C;C) |
Alt | rs1060501195(C;C) |
Reference | Rs1060501195(G;G) |
Significance | Probable-Pathogenic |
Disease | Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | TP53 |
CLNDBN | Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.7579374C>G; NC_000017.10:g.7579374C>T |
CLNSRC | |
CLNACC | RCV000475325.1, RCV000492606.1, RCV000492331.1, |