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rs80359580

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359580(-;-)
Make rs80359580(T;T)
ReferenceGRCh38 38.1/142
Chromosome13
Position32340746
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359580
ebirs80359580
HLIrs80359580
Exacrs80359580
Varsomers80359580
Maprs80359580
PheGenIrs80359580
hapmaprs80359580
1000 genomesrs80359580
hgdprs80359580
ensemblrs80359580
gopubmedrs80359580
geneviewrs80359580
scholarrs80359580
googlers80359580
pharmgkbrs80359580
gwascentralrs80359580
openSNPrs80359580
23andMers80359580
23andMe allrs80359580
SNP Nexus

SNPshotrs80359580
SNPdbers80359580
MSV3drs80359580
GWAS Ctlgrs80359580
Max Magnitude6
rs80359580, also known as 6619insT, c.6391_6392insT and p.Lys2131?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359580(T;T)
Alt rs80359580(T;T)
Reference rs80359580(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32914883_32914884insT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113581.1,