rs750413473
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CA;CA) | 0 | common in clinvar |
Make rs750413473(-;-) |
Make rs750413473(-;CA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 214728709 |
Gene | BARD1 |
is a | snp |
is | mentioned by |
dbSNP | rs750413473 |
dbSNP (classic) | rs750413473 |
ClinGen | rs750413473 |
ebi | rs750413473 |
HLI | rs750413473 |
Exac | rs750413473 |
Gnomad | rs750413473 |
Varsome | rs750413473 |
LitVar | rs750413473 |
Map | rs750413473 |
PheGenI | rs750413473 |
Biobank | rs750413473 |
1000 genomes | rs750413473 |
hgdp | rs750413473 |
ensembl | rs750413473 |
geneview | rs750413473 |
scholar | rs750413473 |
rs750413473 | |
pharmgkb | rs750413473 |
gwascentral | rs750413473 |
openSNP | rs750413473 |
23andMe | rs750413473 |
SNPshot | rs750413473 |
SNPdbe | rs750413473 |
MSV3d | rs750413473 |
GWAS Ctlg | rs750413473 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs750413473(-;-) |
Alt | rs750413473(-;-) |
Reference | Rs750413473(CA;CA) |
Significance | Probable-Pathogenic |
Disease | Hereditary cancer-predisposing syndrome not specified Familial cancer of breast |
Variation | info |
Gene | BARD1 |
CLNDBN | Hereditary cancer-predisposing syndrome not specified Familial cancer of breast |
Reversed | 0 |
HGVS | NC_000002.11:g.215593433_215593434delCA |
CLNSRC | |
CLNACC | RCV000213123.1, RCV000308990.1, RCV000476131.1, |