rs587781454
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(A;A) | 0 | common in clinvar |
Make rs587781454(-;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 132595768 |
Gene | RAD50 |
is a | snp |
is | mentioned by |
dbSNP | rs587781454 |
dbSNP (classic) | rs587781454 |
ClinGen | rs587781454 |
ebi | rs587781454 |
HLI | rs587781454 |
Exac | rs587781454 |
Gnomad | rs587781454 |
Varsome | rs587781454 |
LitVar | rs587781454 |
Map | rs587781454 |
PheGenI | rs587781454 |
Biobank | rs587781454 |
1000 genomes | rs587781454 |
hgdp | rs587781454 |
ensembl | rs587781454 |
geneview | rs587781454 |
scholar | rs587781454 |
rs587781454 | |
pharmgkb | rs587781454 |
gwascentral | rs587781454 |
openSNP | rs587781454 |
23andMe | rs587781454 |
SNPshot | rs587781454 |
SNPdbe | rs587781454 |
MSV3d | rs587781454 |
GWAS Ctlg | rs587781454 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587781454(A;A) rs587781454(T;T) |
Alt | Rs587781454(A;A) rs587781454(T;T) |
Reference | Rs587781454(-;-) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | RAD50 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000005.9:g.131931460_131931461insT; NC_000005.9:g.131931460dupA |
CLNSRC | |
CLNACC | RCV000469803.1, RCV000129381.7, |