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rs80357721

From SNPedia

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


Make rs80357721(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43045749
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357721
dbSNP (classic)rs80357721
ClinGenrs80357721
ebirs80357721
HLIrs80357721
Exacrs80357721
Gnomadrs80357721
Varsomers80357721
LitVarrs80357721
Maprs80357721
PheGenIrs80357721
Biobankrs80357721
1000 genomesrs80357721
hgdprs80357721
ensemblrs80357721
geneviewrs80357721
scholarrs80357721
googlers80357721
pharmgkbrs80357721
gwascentralrs80357721
openSNPrs80357721
23andMers80357721
SNPshotrs80357721
SNPdbers80357721
MSV3drs80357721
GWAS Ctlgrs80357721
Max Magnitude6

BRCA1, c.5521delA (p.Ser1841Valfs)

ClinVar
Risk rs80357721(-;-)
Alt rs80357721(-;-)
Reference Rs80357721(A;A)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41197766delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049034.4, RCV000112693.3,