rs483352695
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;C) | 7 | Li-Fraumeni Syndrome (predicted) |
Make rs483352695(A;G) |
Make rs483352695(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 7674227 |
Gene | TP53 |
is a | snp |
is | mentioned by |
dbSNP | rs483352695 |
dbSNP (classic) | rs483352695 |
ClinGen | rs483352695 |
ebi | rs483352695 |
HLI | rs483352695 |
Exac | rs483352695 |
Gnomad | rs483352695 |
Varsome | rs483352695 |
LitVar | rs483352695 |
Map | rs483352695 |
PheGenI | rs483352695 |
Biobank | rs483352695 |
1000 genomes | rs483352695 |
hgdp | rs483352695 |
ensembl | rs483352695 |
geneview | rs483352695 |
scholar | rs483352695 |
rs483352695 | |
pharmgkb | rs483352695 |
gwascentral | rs483352695 |
openSNP | rs483352695 |
23andMe | rs483352695 |
SNPshot | rs483352695 |
SNPdbe | rs483352695 |
MSV3d | rs483352695 |
GWAS Ctlg | rs483352695 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs483352695(C;C) rs483352695(G;G) rs483352695(T;T) |
Alt | rs483352695(C;C) rs483352695(G;G) rs483352695(T;T) |
Reference | Rs483352695(A;A) |
Significance | Pathogenic |
Disease | Li-Fraumeni syndrome not provided Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | TP53 |
CLNDBN | Li-Fraumeni syndrome not provided Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.7577545T>A; NC_000017.10:g.7577545T>C; NC_000017.10:g.7577545T>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000470073.1, RCV000087173.2, RCV000161036.3, RCV000460370.1, RCV000166380.1, |