rs1064792930
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(ACACCCCCGCCCG;ACACCCCCGCCCG) | 0 | common in clinvar |
Chromosome | 17 |
Position | 7675152 |
Gene | TP53 |
is a | snp |
is | mentioned by |
dbSNP | rs1064792930 |
dbSNP (classic) | rs1064792930 |
ClinGen | rs1064792930 |
ebi | rs1064792930 |
HLI | rs1064792930 |
Exac | rs1064792930 |
Gnomad | rs1064792930 |
Varsome | rs1064792930 |
LitVar | rs1064792930 |
Map | rs1064792930 |
PheGenI | rs1064792930 |
Biobank | rs1064792930 |
1000 genomes | rs1064792930 |
hgdp | rs1064792930 |
ensembl | rs1064792930 |
geneview | rs1064792930 |
scholar | rs1064792930 |
rs1064792930 | |
pharmgkb | rs1064792930 |
gwascentral | rs1064792930 |
openSNP | rs1064792930 |
23andMe | rs1064792930 |
SNPshot | rs1064792930 |
SNPdbe | rs1064792930 |
MSV3d | rs1064792930 |
GWAS Ctlg | rs1064792930 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1064792930(-;-) |
Alt | rs1064792930(-;-) |
Reference | Rs1064792930(ACACCCCCGCCCG;ACACCCCCGCCCG) |
Significance | Pathogenic |
Disease | Li-Fraumeni syndrome |
Variation | info |
Gene | TP53 |
CLNDBN | Li-Fraumeni syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.7578470_7578482delCGGGCGGGGGTGT |
CLNSRC | |
CLNACC | RCV000475282.1, |