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rs80358979

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 5 BRCA2 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar


Make rs80358979(C;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position32356521
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358979
ebirs80358979
HLIrs80358979
Exacrs80358979
Varsomers80358979
Maprs80358979
PheGenIrs80358979
hapmaprs80358979
1000 genomesrs80358979
hgdprs80358979
ensemblrs80358979
gopubmedrs80358979
geneviewrs80358979
scholarrs80358979
googlers80358979
pharmgkbrs80358979
gwascentralrs80358979
openSNPrs80358979
23andMers80358979
23andMe allrs80358979
SNP Nexus

SNPshotrs80358979
SNPdbers80358979
MSV3drs80358979
GWAS Ctlgrs80358979
Max Magnitude5
OMIM600185
Desc
Variant0030
Relatedalso
ClinVar
Risk rs80358979(C;C)
Alt rs80358979(C;C)
Reference rs80358979(T;T)
Significance Pathogenic
Disease Fanconi anemia Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Fanconi anemia, complementation group D1 Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32930658T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009936.6, RCV000045238.2, RCV000113772.1,