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rs80357268

From SNPedia

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


Make rs80357268(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43045773
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357268
dbSNP (classic)rs80357268
ClinGenrs80357268
ebirs80357268
HLIrs80357268
Exacrs80357268
Gnomadrs80357268
Varsomers80357268
LitVarrs80357268
Maprs80357268
PheGenIrs80357268
Biobankrs80357268
1000 genomesrs80357268
hgdprs80357268
ensemblrs80357268
geneviewrs80357268
scholarrs80357268
googlers80357268
pharmgkbrs80357268
gwascentralrs80357268
openSNPrs80357268
23andMers80357268
SNPshotrs80357268
SNPdbers80357268
MSV3drs80357268
GWAS Ctlgrs80357268
Max Magnitude6
ClinVar
Risk rs80357268(A;A)
Alt rs80357268(A;A)
Reference Rs80357268(G;G)
Significance Other
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41197790C>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000049017.3, RCV000077626.4, RCV000132307.3, RCV000255915.1,