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rs80359752

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 common/normal
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359752(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32380142
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359752
ebirs80359752
HLIrs80359752
Exacrs80359752
Varsomers80359752
Maprs80359752
PheGenIrs80359752
hapmaprs80359752
1000 genomesrs80359752
hgdprs80359752
ensemblrs80359752
gopubmedrs80359752
geneviewrs80359752
scholarrs80359752
googlers80359752
pharmgkbrs80359752
gwascentralrs80359752
openSNPrs80359752
23andMers80359752
23andMe allrs80359752
SNP Nexus

SNPshotrs80359752
SNPdbers80359752
MSV3drs80359752
GWAS Ctlgrs80359752
Max Magnitude6
rs80359752, also known as 9481insA, c.9253_9254insA and p.Thr3085?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359752(A;A)
Alt rs80359752(A;A)
Reference rs80359752(;)
Significance Other
Disease Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32954279dupA
CLNSRC Breast Cancer Information Core (BRCA2) Inc.
CLNACC RCV000031808.6, RCV000045760.5, RCV000130780.3, RCV000195407.2,