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rs80359482

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359482(-;-)
Make rs80359482(A;A)
ReferenceGRCh38 38.1/142
Chromosome13
Position32339429
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359482
ebirs80359482
HLIrs80359482
Exacrs80359482
Varsomers80359482
Maprs80359482
PheGenIrs80359482
hapmaprs80359482
1000 genomesrs80359482
hgdprs80359482
ensemblrs80359482
gopubmedrs80359482
geneviewrs80359482
scholarrs80359482
googlers80359482
pharmgkbrs80359482
gwascentralrs80359482
openSNPrs80359482
23andMers80359482
23andMe allrs80359482
SNP Nexus

SNPshotrs80359482
SNPdbers80359482
MSV3drs80359482
GWAS Ctlgrs80359482
Max Magnitude6
rs80359482, also known as 5302insA, c.5074_5075insA and p.Trp1692?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359482(A;A)
Alt rs80359482(A;A)
Reference rs80359482(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32913566_32913567insA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113376.1,