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rs80359466

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359466(-;-)
Make rs80359466(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339163
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359466
ebirs80359466
HLIrs80359466
Exacrs80359466
Varsomers80359466
Maprs80359466
PheGenIrs80359466
hapmaprs80359466
1000 genomesrs80359466
hgdprs80359466
ensemblrs80359466
gopubmedrs80359466
geneviewrs80359466
scholarrs80359466
googlers80359466
pharmgkbrs80359466
gwascentralrs80359466
openSNPrs80359466
23andMers80359466
23andMe allrs80359466
SNP Nexus

SNPshotrs80359466
SNPdbers80359466
MSV3drs80359466
GWAS Ctlgrs80359466
Max Magnitude6
rs80359466, also known as 5036insA, c.4808_4809insA and p.Asn1603?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359466(A;A)
Alt rs80359466(A;A)
Reference rs80359466(;)
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.32913300dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044497.2, RCV000113345.1,