rs121913344
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 7 | Li-Fraumeni Syndrome (predicted) |
Make rs121913344(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 7673704 |
Gene | TP53 |
is a | snp |
is | mentioned by |
dbSNP | rs121913344 |
dbSNP (classic) | rs121913344 |
ClinGen | rs121913344 |
ebi | rs121913344 |
HLI | rs121913344 |
Exac | rs121913344 |
Gnomad | rs121913344 |
Varsome | rs121913344 |
LitVar | rs121913344 |
Map | rs121913344 |
PheGenI | rs121913344 |
Biobank | rs121913344 |
1000 genomes | rs121913344 |
hgdp | rs121913344 |
ensembl | rs121913344 |
geneview | rs121913344 |
scholar | rs121913344 |
rs121913344 | |
pharmgkb | rs121913344 |
gwascentral | rs121913344 |
openSNP | rs121913344 |
23andMe | rs121913344 |
SNPshot | rs121913344 |
SNPdbe | rs121913344 |
MSV3d | rs121913344 |
GWAS Ctlg | rs121913344 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs121913344(T;T) |
Alt | rs121913344(T;T) |
Reference | Rs121913344(C;C) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome not provided Head and Neck Neoplasms Colorectal Neoplasms |
Variation | info |
Gene | TP53 |
CLNDBN | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome not provided Head and Neck Neoplasms Colorectal Neoplasms |
Reversed | 1 |
HGVS | NC_000017.10:g.7577022G>A |
CLNSRC | Ambry Genetics ClinVar |
CLNACC | RCV000130997.4, RCV000232963.2, RCV000356380.1, RCV000422102.1, RCV000428901.1, |