rs730881462
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;TATTAATGAA) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(TATTAATGAA;TATTAATGAA) | 0 | common in clinvar |
Make rs730881462(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 43092393 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs730881462 |
dbSNP (classic) | rs730881462 |
ClinGen | rs730881462 |
ebi | rs730881462 |
HLI | rs730881462 |
Exac | rs730881462 |
Gnomad | rs730881462 |
Varsome | rs730881462 |
LitVar | rs730881462 |
Map | rs730881462 |
PheGenI | rs730881462 |
Biobank | rs730881462 |
1000 genomes | rs730881462 |
hgdp | rs730881462 |
ensembl | rs730881462 |
geneview | rs730881462 |
scholar | rs730881462 |
rs730881462 | |
pharmgkb | rs730881462 |
gwascentral | rs730881462 |
openSNP | rs730881462 |
23andMe | rs730881462 |
SNPshot | rs730881462 |
SNPdbe | rs730881462 |
MSV3d | rs730881462 |
GWAS Ctlg | rs730881462 |
Max Magnitude | 6 |
BRCA1, c.3129_3138delTATTAATGAA (p.Asn1043Lysfs)
ClinVar | |
---|---|
Risk | rs730881462(-;-) |
Alt | rs730881462(-;-) |
Reference | Rs730881462(TATTAATGAA;TATTAATGAA) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41244410_41244419delTTCATTAATA |
CLNSRC | |
CLNACC | RCV000159915.1, RCV000241132.2, |