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rs80357541

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357541(-;-)
Make rs80357541(A;A)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092872
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357541
ebirs80357541
HLIrs80357541
Exacrs80357541
Varsomers80357541
Maprs80357541
PheGenIrs80357541
hapmaprs80357541
1000 genomesrs80357541
hgdprs80357541
ensemblrs80357541
gopubmedrs80357541
geneviewrs80357541
scholarrs80357541
googlers80357541
pharmgkbrs80357541
gwascentralrs80357541
openSNPrs80357541
23andMers80357541
23andMe allrs80357541
SNP Nexus

SNPshotrs80357541
SNPdbers80357541
MSV3drs80357541
GWAS Ctlgrs80357541
Max Magnitude6
rs80357541, also known as 2777insA, c.2658_2659insA and p.Ser886_Ala887?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357541(A;A)
Alt rs80357541(A;A)
Reference rs80357541(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244889_41244890insT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111909.1,