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rs80359753

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359753(-;-)
Make rs80359753(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32394701
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359753
ebirs80359753
HLIrs80359753
Exacrs80359753
Varsomers80359753
Maprs80359753
PheGenIrs80359753
hapmaprs80359753
1000 genomesrs80359753
hgdprs80359753
ensemblrs80359753
gopubmedrs80359753
geneviewrs80359753
scholarrs80359753
googlers80359753
pharmgkbrs80359753
gwascentralrs80359753
openSNPrs80359753
23andMers80359753
23andMe allrs80359753
SNP Nexus

SNPshotrs80359753
SNPdbers80359753
MSV3drs80359753
GWAS Ctlgrs80359753
Max Magnitude6
rs80359753, also known as 9497insT, c.9269_9270insT and p.Phe3090?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359753(T;T)
Alt rs80359753(T;T)
Reference rs80359753(;)
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.32968838dupT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045771.2, RCV000114084.2,