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rs80359570

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359570(-;-)
Make rs80359570(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340595
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359570
ebirs80359570
HLIrs80359570
Exacrs80359570
Varsomers80359570
Maprs80359570
PheGenIrs80359570
hapmaprs80359570
1000 genomesrs80359570
hgdprs80359570
ensemblrs80359570
gopubmedrs80359570
geneviewrs80359570
scholarrs80359570
googlers80359570
pharmgkbrs80359570
gwascentralrs80359570
openSNPrs80359570
23andMers80359570
23andMe allrs80359570
SNP Nexus

SNPshotrs80359570
SNPdbers80359570
MSV3drs80359570
GWAS Ctlgrs80359570
Max Magnitude6
rs80359570, also known as 6468insA, c.6240_6241insA and p.Leu2080_Glu2081?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359570(A;A)
Alt rs80359570(A;A)
Reference rs80359570(;)
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.32914732dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044880.2, RCV000113555.2,