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rs80357788

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357788(-;-)
Make rs80357788(A;A)
ReferenceGRCh38 38.1/142
Chromosome17
Position43090965
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357788
ebirs80357788
HLIrs80357788
Exacrs80357788
Varsomers80357788
Maprs80357788
PheGenIrs80357788
hapmaprs80357788
1000 genomesrs80357788
hgdprs80357788
ensemblrs80357788
gopubmedrs80357788
geneviewrs80357788
scholarrs80357788
googlers80357788
pharmgkbrs80357788
gwascentralrs80357788
openSNPrs80357788
23andMers80357788
23andMe allrs80357788
SNP Nexus

SNPshotrs80357788
SNPdbers80357788
MSV3drs80357788
GWAS Ctlgrs80357788
Max Magnitude6
rs80357788, also known as 4282insA, c.4163_4164insA and p.Gln1388?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357788(A;A)
Alt rs80357788(A;A)
Reference rs80357788(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41242983dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112272.1,