rs786204172
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;AATC) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(AATC;AATC) | 0 | common in clinvar |
Make rs786204172(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 13 |
Position | 32339997 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs786204172 |
dbSNP (classic) | rs786204172 |
ClinGen | rs786204172 |
ebi | rs786204172 |
HLI | rs786204172 |
Exac | rs786204172 |
Gnomad | rs786204172 |
Varsome | rs786204172 |
LitVar | rs786204172 |
Map | rs786204172 |
PheGenI | rs786204172 |
Biobank | rs786204172 |
1000 genomes | rs786204172 |
hgdp | rs786204172 |
ensembl | rs786204172 |
geneview | rs786204172 |
scholar | rs786204172 |
rs786204172 | |
pharmgkb | rs786204172 |
gwascentral | rs786204172 |
openSNP | rs786204172 |
23andMe | rs786204172 |
SNPshot | rs786204172 |
SNPdbe | rs786204172 |
MSV3d | rs786204172 |
GWAS Ctlg | rs786204172 |
Merged from | Rs886038127 |
Max Magnitude | 6 |
rs786204172 appears to have been merged into rs1555284326
ClinVar | |
---|---|
Risk | rs786204172(-;-) rs786204172(TCAA;TCAA) |
Alt | rs786204172(-;-) rs786204172(TCAA;TCAA) |
Reference | Rs786204172(AATC;AATC) |
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.32914136_32914139delTCAA |
CLNSRC | |
CLNACC | RCV000168198.2, RCV000241102.1, |