rs1064792948
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TCAAGAAGAT;TCAAGAAGAT) | 0 | common in clinvar |
Chromosome | 5 |
Position | 132579425 |
Gene | RAD50 |
is a | snp |
is | mentioned by |
dbSNP | rs1064792948 |
dbSNP (classic) | rs1064792948 |
ClinGen | rs1064792948 |
ebi | rs1064792948 |
HLI | rs1064792948 |
Exac | rs1064792948 |
Gnomad | rs1064792948 |
Varsome | rs1064792948 |
LitVar | rs1064792948 |
Map | rs1064792948 |
PheGenI | rs1064792948 |
Biobank | rs1064792948 |
1000 genomes | rs1064792948 |
hgdp | rs1064792948 |
ensembl | rs1064792948 |
geneview | rs1064792948 |
scholar | rs1064792948 |
rs1064792948 | |
pharmgkb | rs1064792948 |
gwascentral | rs1064792948 |
openSNP | rs1064792948 |
23andMe | rs1064792948 |
SNPshot | rs1064792948 |
SNPdbe | rs1064792948 |
MSV3d | rs1064792948 |
GWAS Ctlg | rs1064792948 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1064792948(AA;AA) |
Alt | rs1064792948(AA;AA) |
Reference | Rs1064792948(TCAAGAAGAT;TCAAGAAGAT) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | RAD50 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000005.9:g.131915117_131915126delTCAAGAAGATinsAA |
CLNSRC | |
CLNACC | RCV000472391.1, |