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rs80358523

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358523(C;T)
Make rs80358523(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome13
Position32336961
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358523
dbSNP (classic)rs80358523
ClinGenrs80358523
ebirs80358523
HLIrs80358523
Exacrs80358523
Gnomadrs80358523
Varsomers80358523
LitVarrs80358523
Maprs80358523
PheGenIrs80358523
Biobankrs80358523
1000 genomesrs80358523
hgdprs80358523
ensemblrs80358523
geneviewrs80358523
scholarrs80358523
googlers80358523
pharmgkbrs80358523
gwascentralrs80358523
openSNPrs80358523
23andMers80358523
SNPshotrs80358523
SNPdbers80358523
MSV3drs80358523
GWAS Ctlgrs80358523
Max Magnitude6
ClinVar
Risk rs80358523(G;G) rs80358523(T;T)
Alt rs80358523(G;G) rs80358523(T;T)
Reference Rs80358523(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32911098C>G; NC_000013.10:g.32911098C>T
CLNSRC
CLNACC RCV000238628.2, RCV000459261.1, RCV000044025.2, RCV000113070.1, RCV000163028.1,