rs373428259
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs373428259(C;T) |
Make rs373428259(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 132588872 |
Gene | RAD50 |
is a | snp |
is | mentioned by |
dbSNP | rs373428259 |
dbSNP (classic) | rs373428259 |
ClinGen | rs373428259 |
ebi | rs373428259 |
HLI | rs373428259 |
Exac | rs373428259 |
Gnomad | rs373428259 |
Varsome | rs373428259 |
LitVar | rs373428259 |
Map | rs373428259 |
PheGenI | rs373428259 |
Biobank | rs373428259 |
1000 genomes | rs373428259 |
hgdp | rs373428259 |
ensembl | rs373428259 |
geneview | rs373428259 |
scholar | rs373428259 |
rs373428259 | |
pharmgkb | rs373428259 |
gwascentral | rs373428259 |
openSNP | rs373428259 |
23andMe | rs373428259 |
SNPshot | rs373428259 |
SNPdbe | rs373428259 |
MSV3d | rs373428259 |
GWAS Ctlg | rs373428259 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs373428259(A;A) rs373428259(G;G) rs373428259(T;T) |
Alt | rs373428259(A;A) rs373428259(G;G) rs373428259(T;T) |
Reference | Rs373428259(C;C) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | RAD50 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000005.9:g.131924564C>T |
CLNSRC | |
CLNACC | RCV000163726.1, |