rs878854940
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;AT) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(AT;AT) | 0 | common in clinvar |
Make rs878854940(-;-) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 43092618 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs878854940 |
dbSNP (classic) | rs878854940 |
ClinGen | rs878854940 |
ebi | rs878854940 |
HLI | rs878854940 |
Exac | rs878854940 |
Gnomad | rs878854940 |
Varsome | rs878854940 |
LitVar | rs878854940 |
Map | rs878854940 |
PheGenI | rs878854940 |
Biobank | rs878854940 |
1000 genomes | rs878854940 |
hgdp | rs878854940 |
ensembl | rs878854940 |
geneview | rs878854940 |
scholar | rs878854940 |
rs878854940 | |
pharmgkb | rs878854940 |
gwascentral | rs878854940 |
openSNP | rs878854940 |
23andMe | rs878854940 |
SNPshot | rs878854940 |
SNPdbe | rs878854940 |
MSV3d | rs878854940 |
GWAS Ctlg | rs878854940 |
Max Magnitude | 6 |
aka c.788-1587_788-1586del
ClinVar | |
---|---|
Risk | rs878854940(-;-) |
Alt | rs878854940(-;-) |
Reference | Rs878854940(AT;AT) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome not provided |
Variation | info |
Gene | BRCA1 |
CLNDBN | Hereditary breast and ovarian cancer syndrome not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.41244635_41244636delAT |
CLNSRC | |
CLNACC | RCV000233519.1, RCV000481177.1, |