rs375338359
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs375338359(C;T) |
Make rs375338359(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 7670684 |
Gene | TP53 |
is a | snp |
is | mentioned by |
dbSNP | rs375338359 |
dbSNP (classic) | rs375338359 |
ClinGen | rs375338359 |
ebi | rs375338359 |
HLI | rs375338359 |
Exac | rs375338359 |
Gnomad | rs375338359 |
Varsome | rs375338359 |
LitVar | rs375338359 |
Map | rs375338359 |
PheGenI | rs375338359 |
Biobank | rs375338359 |
1000 genomes | rs375338359 |
hgdp | rs375338359 |
ensembl | rs375338359 |
geneview | rs375338359 |
scholar | rs375338359 |
rs375338359 | |
pharmgkb | rs375338359 |
gwascentral | rs375338359 |
openSNP | rs375338359 |
23andMe | rs375338359 |
SNPshot | rs375338359 |
SNPdbe | rs375338359 |
MSV3d | rs375338359 |
GWAS Ctlg | rs375338359 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs375338359(G;G) rs375338359(T;T) |
Alt | rs375338359(G;G) rs375338359(T;T) |
Reference | Rs375338359(C;C) |
Significance | Probable-Pathogenic |
Disease | Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome not specified |
Variation | info |
Gene | TP53 |
CLNDBN | Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome not specified |
Reversed | 0 |
HGVS | NC_000017.10:g.7574002C>G; NC_000017.10:g.7574002C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000198319.1, RCV000213216.1, RCV000213668.1, RCV000478259.1, |