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rs80359368

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359368(-;-)
Make rs80359368(A;A)
ReferenceGRCh38 38.1/142
Chromosome13
Position32337422
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359368
ebirs80359368
HLIrs80359368
Exacrs80359368
Varsomers80359368
Maprs80359368
PheGenIrs80359368
hapmaprs80359368
1000 genomesrs80359368
hgdprs80359368
ensemblrs80359368
gopubmedrs80359368
geneviewrs80359368
scholarrs80359368
googlers80359368
pharmgkbrs80359368
gwascentralrs80359368
openSNPrs80359368
23andMers80359368
23andMe allrs80359368
SNP Nexus

SNPshotrs80359368
SNPdbers80359368
MSV3drs80359368
GWAS Ctlgrs80359368
Max Magnitude6
rs80359368, also known as 3295insA, c.3067_3068insA and p.Asn1023?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359368(A;A)
Alt rs80359368(A;A)
Reference rs80359368(;)
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.32911560dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044110.2, RCV000113129.1,