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rs80359370

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
(A;A) 0 common in clinvar


Make rs80359370(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337501
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359370
ebirs80359370
HLIrs80359370
Exacrs80359370
Varsomers80359370
Maprs80359370
PheGenIrs80359370
hapmaprs80359370
1000 genomesrs80359370
hgdprs80359370
ensemblrs80359370
gopubmedrs80359370
geneviewrs80359370
scholarrs80359370
googlers80359370
pharmgkbrs80359370
gwascentralrs80359370
openSNPrs80359370
23andMers80359370
23andMe allrs80359370
SNP Nexus

SNPshotrs80359370
SNPdbers80359370
MSV3drs80359370
GWAS Ctlgrs80359370
Max Magnitude6
rs80359370, also known as 3374delA, c.3146_3146delA and p.Asn1049Ilefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359370(;)
Alt rs80359370(;)
Reference rs80359370(A;A)
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.32911638delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044125.2, RCV000113140.1,