rs730881468
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(T;T) | 0 | common in clinvar |
Make rs730881468(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 43094662 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs730881468 |
dbSNP (classic) | rs730881468 |
ClinGen | rs730881468 |
ebi | rs730881468 |
HLI | rs730881468 |
Exac | rs730881468 |
Gnomad | rs730881468 |
Varsome | rs730881468 |
LitVar | rs730881468 |
Map | rs730881468 |
PheGenI | rs730881468 |
Biobank | rs730881468 |
1000 genomes | rs730881468 |
hgdp | rs730881468 |
ensembl | rs730881468 |
geneview | rs730881468 |
scholar | rs730881468 |
rs730881468 | |
pharmgkb | rs730881468 |
gwascentral | rs730881468 |
openSNP | rs730881468 |
23andMe | rs730881468 |
SNPshot | rs730881468 |
SNPdbe | rs730881468 |
MSV3d | rs730881468 |
GWAS Ctlg | rs730881468 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs730881468(A;A) rs730881468(G;G) |
Alt | rs730881468(A;A) rs730881468(G;G) |
Reference | Rs730881468(T;T) |
Significance | Pathogenic |
Disease | not provided Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | not provided Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41246679A>C; NC_000017.10:g.41246679A>T |
CLNSRC | |
CLNACC | RCV000159946.1, RCV000241503.1, RCV000410713.1, |