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rs80357287

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357287(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43124096
GeneBRCA1, NBR2
is asnp
is mentioned by
dbSNPrs80357287
ebirs80357287
HLIrs80357287
Exacrs80357287
Varsomers80357287
Maprs80357287
PheGenIrs80357287
hapmaprs80357287
1000 genomesrs80357287
hgdprs80357287
ensemblrs80357287
gopubmedrs80357287
geneviewrs80357287
scholarrs80357287
googlers80357287
pharmgkbrs80357287
gwascentralrs80357287
openSNPrs80357287
23andMers80357287
23andMe allrs80357287
SNP Nexus

SNPshotrs80357287
SNPdbers80357287
MSV3drs80357287
GWAS Ctlgrs80357287
Max Magnitude6

c.1A>G (p.Met1Val)

ClinVar designates this as pathogenic for breast cancer

ClinVar
Risk rs80357287(G;G)
Alt rs80357287(G;G)
Reference rs80357287(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene NBR2 BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41276113T>C
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000047677.4, RCV000077503.5, RCV000131905.2, RCV000212153.1,