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rs80359222

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359222(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32394913
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359222
ebirs80359222
HLIrs80359222
Exacrs80359222
Varsomers80359222
Maprs80359222
PheGenIrs80359222
hapmaprs80359222
1000 genomesrs80359222
hgdprs80359222
ensemblrs80359222
gopubmedrs80359222
geneviewrs80359222
scholarrs80359222
googlers80359222
pharmgkbrs80359222
gwascentralrs80359222
openSNPrs80359222
23andMers80359222
23andMe allrs80359222
SNP Nexus

SNPshotrs80359222
SNPdbers80359222
MSV3drs80359222
GWAS Ctlgrs80359222
Max Magnitude6
rs80359222, also known as K3161X, c.9481A>T and p.Lys3161Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359222(T;T)
Alt rs80359222(T;T)
Reference Rs80359222(A;A)
Significance Pathogenic
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.32969050A>T
CLNSRC ClinVar
CLNACC RCV000045832.2, RCV000114117.3,