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rs80357830

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357830(-;-)
Make rs80357830(A;A)
ReferenceGRCh38 38.1/142
Chromosome17
Position43093056
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357830
ebirs80357830
HLIrs80357830
Exacrs80357830
Varsomers80357830
Maprs80357830
PheGenIrs80357830
hapmaprs80357830
1000 genomesrs80357830
hgdprs80357830
ensemblrs80357830
gopubmedrs80357830
geneviewrs80357830
scholarrs80357830
googlers80357830
pharmgkbrs80357830
gwascentralrs80357830
openSNPrs80357830
23andMers80357830
23andMe allrs80357830
SNP Nexus

SNPshotrs80357830
SNPdbers80357830
MSV3drs80357830
GWAS Ctlgrs80357830
Max Magnitude6
rs80357830, also known as 2593insA, c.2474_2475insA and p.Asp825?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357830(A;A)
Alt rs80357830(A;A)
Reference rs80357830(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245074dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111871.1,