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rs80358971

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358971(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32356463
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358971
ebirs80358971
HLIrs80358971
Exacrs80358971
Varsomers80358971
Maprs80358971
PheGenIrs80358971
hapmaprs80358971
1000 genomesrs80358971
hgdprs80358971
ensemblrs80358971
gopubmedrs80358971
geneviewrs80358971
scholarrs80358971
googlers80358971
pharmgkbrs80358971
gwascentralrs80358971
openSNPrs80358971
23andMers80358971
23andMe allrs80358971
SNP Nexus

SNPshotrs80358971
SNPdbers80358971
MSV3drs80358971
GWAS Ctlgrs80358971
Max Magnitude6
rs80358971, also known as Q2491X, c.7471C>T and p.Gln2491Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358971(T;T)
Alt rs80358971(T;T)
Reference rs80358971(C;C)
Significance Untested
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32930600C>T
CLNSRC ClinVar
CLNACC RCV000045225.2, RCV000113766.1,