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rs80359747

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359747(-;-)
Make rs80359747(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32379894
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359747
ebirs80359747
HLIrs80359747
Exacrs80359747
Varsomers80359747
Maprs80359747
PheGenIrs80359747
hapmaprs80359747
1000 genomesrs80359747
hgdprs80359747
ensemblrs80359747
gopubmedrs80359747
geneviewrs80359747
scholarrs80359747
googlers80359747
pharmgkbrs80359747
gwascentralrs80359747
openSNPrs80359747
23andMers80359747
23andMe allrs80359747
SNP Nexus

SNPshotrs80359747
SNPdbers80359747
MSV3drs80359747
GWAS Ctlgrs80359747
Max Magnitude6
rs80359747, also known as 9326insA, c.9098_9099insA and p.Thr3033?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359747(CA,CC;CA,CC)
Alt rs80359747(CA,CC;CA,CC)
Reference rs80359747(C;C)
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.32954031_32954032insA; NC_000013.10:g.32954031dupC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045712.2, RCV000114044.1, RCV000114045.1,