rs797044986
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;A) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs797044986(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 13 |
Position | 32337945 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs797044986 |
dbSNP (classic) | rs797044986 |
ClinGen | rs797044986 |
ebi | rs797044986 |
HLI | rs797044986 |
Exac | rs797044986 |
Gnomad | rs797044986 |
Varsome | rs797044986 |
LitVar | rs797044986 |
Map | rs797044986 |
PheGenI | rs797044986 |
Biobank | rs797044986 |
1000 genomes | rs797044986 |
hgdp | rs797044986 |
ensembl | rs797044986 |
geneview | rs797044986 |
scholar | rs797044986 |
rs797044986 | |
pharmgkb | rs797044986 |
gwascentral | rs797044986 |
openSNP | rs797044986 |
23andMe | rs797044986 |
SNPshot | rs797044986 |
SNPdbe | rs797044986 |
MSV3d | rs797044986 |
GWAS Ctlg | rs797044986 |
Merged from | Rs886038088 |
Max Magnitude | 6 |
This appears to be a historic SNP, present in earlier versions of dbSNP but not more recent ones, where it has been replaced by rs397507677.
ClinVar | |
---|---|
Risk | rs797044986(A;A) |
Alt | rs797044986(A;A) |
Reference | Rs797044986(-;-) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32912085dupA |
CLNSRC | |
CLNACC | RCV000190456.1, RCV000241184.2, |