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rs80359299

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359299(-;-)
Make rs80359299(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32319179
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359299
ebirs80359299
HLIrs80359299
Exacrs80359299
Varsomers80359299
Maprs80359299
PheGenIrs80359299
hapmaprs80359299
1000 genomesrs80359299
hgdprs80359299
ensemblrs80359299
gopubmedrs80359299
geneviewrs80359299
scholarrs80359299
googlers80359299
pharmgkbrs80359299
gwascentralrs80359299
openSNPrs80359299
23andMers80359299
23andMe allrs80359299
SNP Nexus

SNPshotrs80359299
SNPdbers80359299
MSV3drs80359299
GWAS Ctlgrs80359299
Max Magnitude6
rs80359299, also known as 398insA, c.170_171insA and p.Tyr57?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359299(A;A)
Alt rs80359299(A;A)
Reference rs80359299(;)
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.32893316dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043865.2, RCV000113215.1,