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rs80357878

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;C) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357878(-;-)
Make rs80357878(C;C)
ReferenceGRCh38 38.1/142
Chromosome17
Position43091700
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357878
ebirs80357878
HLIrs80357878
Exacrs80357878
Varsomers80357878
Maprs80357878
PheGenIrs80357878
hapmaprs80357878
1000 genomesrs80357878
hgdprs80357878
ensemblrs80357878
gopubmedrs80357878
geneviewrs80357878
scholarrs80357878
googlers80357878
pharmgkbrs80357878
gwascentralrs80357878
openSNPrs80357878
23andMers80357878
23andMe allrs80357878
SNP Nexus

SNPshotrs80357878
SNPdbers80357878
MSV3drs80357878
GWAS Ctlgrs80357878
Max Magnitude6
rs80357878, also known as 3949insC, c.3830_3831insC and p.Ala1277?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357878(C;C)
Alt rs80357878(C;C)
Reference rs80357878(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41243718dupG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112193.1,