rs1060501954
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TT;TT) | 0 | common in clinvar |
Make rs1060501954(-;-) |
Make rs1060501954(-;TT) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 5 |
Position | 132589638 |
Gene | RAD50 |
is a | snp |
is | mentioned by |
dbSNP | rs1060501954 |
dbSNP (classic) | rs1060501954 |
ClinGen | rs1060501954 |
ebi | rs1060501954 |
HLI | rs1060501954 |
Exac | rs1060501954 |
Gnomad | rs1060501954 |
Varsome | rs1060501954 |
LitVar | rs1060501954 |
Map | rs1060501954 |
PheGenI | rs1060501954 |
Biobank | rs1060501954 |
1000 genomes | rs1060501954 |
hgdp | rs1060501954 |
ensembl | rs1060501954 |
geneview | rs1060501954 |
scholar | rs1060501954 |
rs1060501954 | |
pharmgkb | rs1060501954 |
gwascentral | rs1060501954 |
openSNP | rs1060501954 |
23andMe | rs1060501954 |
SNPshot | rs1060501954 |
SNPdbe | rs1060501954 |
MSV3d | rs1060501954 |
GWAS Ctlg | rs1060501954 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060501954(-;-) |
Alt | rs1060501954(-;-) |
Reference | Rs1060501954(TT;TT) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | RAD50 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000005.9:g.131925330_131925331delTT |
CLNSRC | |
CLNACC | RCV000457032.1, |