rs730881999
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs730881999(C;T) |
Make rs730881999(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 7675232 |
Gene | TP53 |
is a | snp |
is | mentioned by |
dbSNP | rs730881999 |
dbSNP (classic) | rs730881999 |
ClinGen | rs730881999 |
ebi | rs730881999 |
HLI | rs730881999 |
Exac | rs730881999 |
Gnomad | rs730881999 |
Varsome | rs730881999 |
LitVar | rs730881999 |
Map | rs730881999 |
PheGenI | rs730881999 |
Biobank | rs730881999 |
1000 genomes | rs730881999 |
hgdp | rs730881999 |
ensembl | rs730881999 |
geneview | rs730881999 |
scholar | rs730881999 |
rs730881999 | |
pharmgkb | rs730881999 |
gwascentral | rs730881999 |
openSNP | rs730881999 |
23andMe | rs730881999 |
SNPshot | rs730881999 |
SNPdbe | rs730881999 |
MSV3d | rs730881999 |
GWAS Ctlg | rs730881999 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730881999(G;G) rs730881999(T;T) |
Alt | rs730881999(G;G) rs730881999(T;T) |
Reference | Rs730881999(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided Li-Fraumeni syndrome |
Variation | info |
Gene | TP53 |
CLNDBN | not provided Li-Fraumeni syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.7578550G>A; NC_000017.10:g.7578550G>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000161024.2, RCV000205404.1, |