rs398122662
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 rs398122662(A;A) |
Make rs398122662(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 17 |
Position | 43092980 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs398122662 |
dbSNP (classic) | rs398122662 |
ClinGen | rs398122662 |
ebi | rs398122662 |
HLI | rs398122662 |
Exac | rs398122662 |
Gnomad | rs398122662 |
Varsome | rs398122662 |
LitVar | rs398122662 |
Map | rs398122662 |
PheGenI | rs398122662 |
Biobank | rs398122662 |
1000 genomes | rs398122662 |
hgdp | rs398122662 |
ensembl | rs398122662 |
geneview | rs398122662 |
scholar | rs398122662 |
rs398122662 | |
pharmgkb | rs398122662 |
gwascentral | rs398122662 |
openSNP | rs398122662 |
23andMe | rs398122662 |
SNPshot | rs398122662 |
SNPdbe | rs398122662 |
MSV3d | rs398122662 |
GWAS Ctlg | rs398122662 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs398122662(A;A) rs398122662(T;T) |
Alt | rs398122662(A;A) rs398122662(T;T) |
Reference | Rs398122662(G;G) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer not specified |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 not specified |
Reversed | 1 |
HGVS | NC_000017.10:g.41244997C>A; NC_000017.10:g.41244997C>T |
CLNSRC | |
CLNACC | RCV000256930.2, RCV000077110.3, RCV000159874.2, |