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rs80357926

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357926(-;-)
Make rs80357926(A;A)
ReferenceGRCh38 38.1/142
Chromosome17
Position43091910
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357926
ebirs80357926
HLIrs80357926
Exacrs80357926
Varsomers80357926
Maprs80357926
PheGenIrs80357926
hapmaprs80357926
1000 genomesrs80357926
hgdprs80357926
ensemblrs80357926
gopubmedrs80357926
geneviewrs80357926
scholarrs80357926
googlers80357926
pharmgkbrs80357926
gwascentralrs80357926
openSNPrs80357926
23andMers80357926
23andMe allrs80357926
SNP Nexus

SNPshotrs80357926
SNPdbers80357926
MSV3drs80357926
GWAS Ctlgrs80357926
Max Magnitude6
rs80357926, also known as 3739insA, c.3620_3621insA and p.Lys1207?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357926(A;A)
Alt rs80357926(A;A)
Reference rs80357926(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41243928dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112137.1,