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rs80359500

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359500(-;-)
Make rs80359500(T;T)
ReferenceGRCh38 38.1/142
Chromosome13
Position32339594
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359500
ebirs80359500
HLIrs80359500
Exacrs80359500
Varsomers80359500
Maprs80359500
PheGenIrs80359500
hapmaprs80359500
1000 genomesrs80359500
hgdprs80359500
ensemblrs80359500
gopubmedrs80359500
geneviewrs80359500
scholarrs80359500
googlers80359500
pharmgkbrs80359500
gwascentralrs80359500
openSNPrs80359500
23andMers80359500
23andMe allrs80359500
SNP Nexus

SNPshotrs80359500
SNPdbers80359500
MSV3drs80359500
GWAS Ctlgrs80359500
Max Magnitude6
rs80359500, also known as 5467insT, c.5239_5240insT and p.Asn1747?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359500(T;T)
Alt rs80359500(T;T)
Reference rs80359500(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32913731_32913732insT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113409.1,