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rs80358061

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
(T;T) 0 Normal


Make rs80358061(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43104967
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358061
dbSNP (classic)rs80358061
ClinGenrs80358061
ebirs80358061
HLIrs80358061
Exacrs80358061
Gnomadrs80358061
Varsomers80358061
LitVarrs80358061
Maprs80358061
PheGenIrs80358061
Biobankrs80358061
1000 genomesrs80358061
hgdprs80358061
ensemblrs80358061
geneviewrs80358061
scholarrs80358061
googlers80358061
pharmgkbrs80358061
gwascentralrs80358061
openSNPrs80358061
23andMers80358061
SNPshotrs80358061
SNPdbers80358061
MSV3drs80358061
GWAS Ctlgrs80358061
Max Magnitude6
ClinVar
Risk rs80358061(G;G)
Alt rs80358061(G;G)
Reference Rs80358061(T;T)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41256984A>C
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031030.7, RCV000047725.7, RCV000074570.7, RCV000131898.3, RCV000469831.1,