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rs80358920

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358920(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32346841
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358920
ebirs80358920
HLIrs80358920
Exacrs80358920
Varsomers80358920
Maprs80358920
PheGenIrs80358920
hapmaprs80358920
1000 genomesrs80358920
hgdprs80358920
ensemblrs80358920
gopubmedrs80358920
geneviewrs80358920
scholarrs80358920
googlers80358920
pharmgkbrs80358920
gwascentralrs80358920
openSNPrs80358920
23andMers80358920
23andMe allrs80358920
SNP Nexus

SNPshotrs80358920
SNPdbers80358920
MSV3drs80358920
GWAS Ctlgrs80358920
Max Magnitude6
rs80358920, also known as R2318X, c.6952C>T and p.Arg2318Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358920(T;T)
Alt rs80358920(T;T)
Reference rs80358920(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32920978C>T
CLNSRC ClinVar
CLNACC RCV000031658.5, RCV000045095.5, RCV000212256.1,