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rs80359199

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359199(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32394718
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359199
ebirs80359199
HLIrs80359199
Exacrs80359199
Varsomers80359199
Maprs80359199
PheGenIrs80359199
hapmaprs80359199
1000 genomesrs80359199
hgdprs80359199
ensemblrs80359199
gopubmedrs80359199
geneviewrs80359199
scholarrs80359199
googlers80359199
pharmgkbrs80359199
gwascentralrs80359199
openSNPrs80359199
23andMers80359199
23andMe allrs80359199
SNP Nexus

SNPshotrs80359199
SNPdbers80359199
MSV3drs80359199
GWAS Ctlgrs80359199
Max Magnitude6
rs80359199, also known as E3096X, c.9286G>T and p.Glu3096Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359199(A,T;A,T)
Alt rs80359199(A,T;A,T)
Reference rs80359199(G;G)
Significance Pathogenic
Disease not specified Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN not specified Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32968855G>A; NC_000013.10:g.32968855G>T
CLNSRC ClinVar
CLNACC RCV000074561.4, RCV000045780.2, RCV000114086.1,