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rs80357775

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;C) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357775(-;-)
Make rs80357775(C;C)
ReferenceGRCh38 38.1/142
Chromosome17
Position43094546
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357775
ebirs80357775
HLIrs80357775
Exacrs80357775
Varsomers80357775
Maprs80357775
PheGenIrs80357775
hapmaprs80357775
1000 genomesrs80357775
hgdprs80357775
ensemblrs80357775
gopubmedrs80357775
geneviewrs80357775
scholarrs80357775
googlers80357775
pharmgkbrs80357775
gwascentralrs80357775
openSNPrs80357775
23andMers80357775
23andMe allrs80357775
SNP Nexus

SNPshotrs80357775
SNPdbers80357775
MSV3drs80357775
GWAS Ctlgrs80357775
Max Magnitude6
rs80357775, also known as 1103insC, c.984_985insC and p.Cys328_Asn329?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357775(C;C)
Alt rs80357775(C;C)
Reference rs80357775(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246563_41246564insG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111522.1,