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rs80357672

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357672(-;-)
Make rs80357672(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43067610
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357672
ebirs80357672
HLIrs80357672
Exacrs80357672
Varsomers80357672
Maprs80357672
PheGenIrs80357672
hapmaprs80357672
1000 genomesrs80357672
hgdprs80357672
ensemblrs80357672
gopubmedrs80357672
geneviewrs80357672
scholarrs80357672
googlers80357672
pharmgkbrs80357672
gwascentralrs80357672
openSNPrs80357672
23andMers80357672
23andMe allrs80357672
SNP Nexus

SNPshotrs80357672
SNPdbers80357672
MSV3drs80357672
GWAS Ctlgrs80357672
Max Magnitude6
rs80357672, also known as 5190insA, c.5071_5072insA and p.Thr1691?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357672(A;A)
Alt rs80357672(A;A)
Reference rs80357672(;)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41219628dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048759.2, RCV000112481.1,