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rs80359542

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359542(-;-)
Make rs80359542(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340191
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359542
ebirs80359542
HLIrs80359542
Exacrs80359542
Varsomers80359542
Maprs80359542
PheGenIrs80359542
hapmaprs80359542
1000 genomesrs80359542
hgdprs80359542
ensemblrs80359542
gopubmedrs80359542
geneviewrs80359542
scholarrs80359542
googlers80359542
pharmgkbrs80359542
gwascentralrs80359542
openSNPrs80359542
23andMers80359542
23andMe allrs80359542
SNP Nexus

SNPshotrs80359542
SNPdbers80359542
MSV3drs80359542
GWAS Ctlgrs80359542
Max Magnitude6
rs80359542, also known as 6064insA, c.5836_5837insA and p.Ser1946?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359542(A;A)
Alt rs80359542(A;A)
Reference rs80359542(;)
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.32914328_32914329insA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044771.2, RCV000113491.1,