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rs80357776

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357776(-;-)
Make rs80357776(A;A)
ReferenceGRCh38 38.1/142
Chromosome17
Position43094401
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357776
ebirs80357776
HLIrs80357776
Exacrs80357776
Varsomers80357776
Maprs80357776
PheGenIrs80357776
hapmaprs80357776
1000 genomesrs80357776
hgdprs80357776
ensemblrs80357776
gopubmedrs80357776
geneviewrs80357776
scholarrs80357776
googlers80357776
pharmgkbrs80357776
gwascentralrs80357776
openSNPrs80357776
23andMers80357776
23andMe allrs80357776
SNP Nexus

SNPshotrs80357776
SNPdbers80357776
MSV3drs80357776
GWAS Ctlgrs80357776
Max Magnitude6
rs80357776, also known as 1248insA, c.1129_1130insA and p.Ser377?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357776(A;A)
Alt rs80357776(A;A)
Reference rs80357776(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246419dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111558.1,