rs45444999
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(C;C) | 0 | |
(G;G) | 0 | common in clinvar |
Make rs45444999(A;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 43063882 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs45444999 |
dbSNP (classic) | rs45444999 |
ClinGen | rs45444999 |
ebi | rs45444999 |
HLI | rs45444999 |
Exac | rs45444999 |
Gnomad | rs45444999 |
Varsome | rs45444999 |
LitVar | rs45444999 |
Map | rs45444999 |
PheGenI | rs45444999 |
Biobank | rs45444999 |
1000 genomes | rs45444999 |
hgdp | rs45444999 |
ensembl | rs45444999 |
geneview | rs45444999 |
scholar | rs45444999 |
rs45444999 | |
pharmgkb | rs45444999 |
gwascentral | rs45444999 |
openSNP | rs45444999 |
23andMe | rs45444999 |
SNPshot | rs45444999 |
SNPdbe | rs45444999 |
MSV3d | rs45444999 |
GWAS Ctlg | rs45444999 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs45444999(A;A) rs45444999(T;T) |
Alt | rs45444999(A;A) rs45444999(T;T) |
Reference | Rs45444999(G;G) |
Significance | Untested |
Disease | not specified Familial cancer of breast Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | not specified Familial cancer of breast Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41215899C>A; NC_000017.10:g.41215899C>T |
CLNSRC | ClinVar |
CLNACC | RCV000479434.1, RCV000048812.2, RCV000112507.1, |