rs753862052
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs753862052(-;AT) |
Make rs753862052(AT;AT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 35107439 |
Gene | RAD51D, RAD51L3-RFFL |
is a | snp |
is | mentioned by |
dbSNP | rs753862052 |
dbSNP (classic) | rs753862052 |
ClinGen | rs753862052 |
ebi | rs753862052 |
HLI | rs753862052 |
Exac | rs753862052 |
Gnomad | rs753862052 |
Varsome | rs753862052 |
LitVar | rs753862052 |
Map | rs753862052 |
PheGenI | rs753862052 |
Biobank | rs753862052 |
1000 genomes | rs753862052 |
hgdp | rs753862052 |
ensembl | rs753862052 |
geneview | rs753862052 |
scholar | rs753862052 |
rs753862052 | |
pharmgkb | rs753862052 |
gwascentral | rs753862052 |
openSNP | rs753862052 |
23andMe | rs753862052 |
SNPshot | rs753862052 |
SNPdbe | rs753862052 |
MSV3d | rs753862052 |
GWAS Ctlg | rs753862052 |
Max Magnitude | 0 |
Mentioned as a pathogenic/likely pathogenic mutation associated with cancer predisposition in [PMID 26681312]
ClinVar | |
---|---|
Risk | rs753862052(TA;TA) |
Alt | rs753862052(TA;TA) |
Reference | Rs753862052(-;-) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer |
Variation | info |
Gene | RAD51D RAD51L3-RFFL |
CLNDBN | Breast-ovarian cancer, familial 4 |
Reversed | 0 |
HGVS | NC_000017.10:g.33434459_33434460dupTA |
CLNSRC | |
CLNACC | RCV000226442.2, |