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rs80359314

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359314(-;-)
Make rs80359314(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333366
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359314
ebirs80359314
HLIrs80359314
Exacrs80359314
Varsomers80359314
Maprs80359314
PheGenIrs80359314
hapmaprs80359314
1000 genomesrs80359314
hgdprs80359314
ensemblrs80359314
gopubmedrs80359314
geneviewrs80359314
scholarrs80359314
googlers80359314
pharmgkbrs80359314
gwascentralrs80359314
openSNPrs80359314
23andMers80359314
23andMe allrs80359314
SNP Nexus

SNPshotrs80359314
SNPdbers80359314
MSV3drs80359314
GWAS Ctlgrs80359314
Max Magnitude6
rs80359314, also known as 2116insA, c.1888_1889insA and p.Thr630?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359314(A;A)
Alt rs80359314(A;A)
Reference rs80359314(;)
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.32907503dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043916.2, RCV000077671.3,