rs786202998
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs786202998(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 43091030 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs786202998 |
dbSNP (classic) | rs786202998 |
ClinGen | rs786202998 |
ebi | rs786202998 |
HLI | rs786202998 |
Exac | rs786202998 |
Gnomad | rs786202998 |
Varsome | rs786202998 |
LitVar | rs786202998 |
Map | rs786202998 |
PheGenI | rs786202998 |
Biobank | rs786202998 |
1000 genomes | rs786202998 |
hgdp | rs786202998 |
ensembl | rs786202998 |
geneview | rs786202998 |
scholar | rs786202998 |
rs786202998 | |
pharmgkb | rs786202998 |
gwascentral | rs786202998 |
openSNP | rs786202998 |
23andMe | rs786202998 |
SNPshot | rs786202998 |
SNPdbe | rs786202998 |
MSV3d | rs786202998 |
GWAS Ctlg | rs786202998 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs786202998(A;A) rs786202998(T;T) |
Alt | rs786202998(A;A) rs786202998(T;T) |
Reference | Rs786202998(G;G) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Breast-ovarian cancer not specified |
Variation | info |
Gene | BRCA1 |
CLNDBN | Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1 not specified |
Reversed | 1 |
HGVS | NC_000017.10:g.41243047C>A; NC_000017.10:g.41243047C>T |
CLNSRC | |
CLNACC | RCV000166099.1, RCV000241336.1, RCV000235899.1, |