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rs80357976

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
(A;A) 0 common in clinvar


Make rs80357976(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43045780
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357976
dbSNP (classic)rs80357976
ClinGenrs80357976
ebirs80357976
HLIrs80357976
Exacrs80357976
Gnomadrs80357976
Varsomers80357976
LitVarrs80357976
Maprs80357976
PheGenIrs80357976
Biobankrs80357976
1000 genomesrs80357976
hgdprs80357976
ensemblrs80357976
geneviewrs80357976
scholarrs80357976
googlers80357976
pharmgkbrs80357976
gwascentralrs80357976
openSNPrs80357976
23andMers80357976
SNPshotrs80357976
SNPdbers80357976
MSV3drs80357976
GWAS Ctlgrs80357976
Max Magnitude6

BRCA1, c.5490delA (p.Pro1831Leufs)

ClinVar
Risk rs80357976(-;-)
Alt rs80357976(-;-)
Reference Rs80357976(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41197797delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112674.3,