rs67284603
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs67284603(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43094522 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs67284603 |
dbSNP (classic) | rs67284603 |
ClinGen | rs67284603 |
ebi | rs67284603 |
HLI | rs67284603 |
Exac | rs67284603 |
Gnomad | rs67284603 |
Varsome | rs67284603 |
LitVar | rs67284603 |
Map | rs67284603 |
PheGenI | rs67284603 |
Biobank | rs67284603 |
1000 genomes | rs67284603 |
hgdp | rs67284603 |
ensembl | rs67284603 |
geneview | rs67284603 |
scholar | rs67284603 |
rs67284603 | |
pharmgkb | rs67284603 |
gwascentral | rs67284603 |
openSNP | rs67284603 |
23andMe | rs67284603 |
SNPshot | rs67284603 |
SNPdbe | rs67284603 |
MSV3d | rs67284603 |
GWAS Ctlg | rs67284603 |
Max Magnitude | 6 |
rs67284603, also known as 1127insA, c.1008_1009insA and p.Thr336_Glu337?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs67284603(T;T) |
Alt | rs67284603(T;T) |
Reference | Rs67284603(-;-) |
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 | 0 |
HGVS | NC_000017.10:g.41246540dupT |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000047307.2, RCV000111528.3, |