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rs80359306

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359306(-;-)
Make rs80359306(A;A)
ReferenceGRCh38 38.1/142
Chromosome13
Position32333284
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359306
ebirs80359306
HLIrs80359306
Exacrs80359306
Varsomers80359306
Maprs80359306
PheGenIrs80359306
hapmaprs80359306
1000 genomesrs80359306
hgdprs80359306
ensemblrs80359306
gopubmedrs80359306
geneviewrs80359306
scholarrs80359306
googlers80359306
pharmgkbrs80359306
gwascentralrs80359306
openSNPrs80359306
23andMers80359306
23andMe allrs80359306
SNP Nexus

SNPshotrs80359306
SNPdbers80359306
MSV3drs80359306
GWAS Ctlgrs80359306
Max Magnitude6
rs80359306, also known as 2034insA, c.1806_1807insA and p.Gly602_Lys603?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359306(A;A)
Alt rs80359306(A;A)
Reference rs80359306(;)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32907428dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031343.11, RCV000043897.6, RCV000131453.2, RCV000160269.2,