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rs80358009

From SNPedia

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


Make rs80358009(C;C)
ReferenceGRCh38 38.1/142
Chromosome17
Position43047641
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358009
dbSNP (classic)rs80358009
ClinGenrs80358009
ebirs80358009
HLIrs80358009
Exacrs80358009
Gnomadrs80358009
Varsomers80358009
LitVarrs80358009
Maprs80358009
PheGenIrs80358009
Biobankrs80358009
1000 genomesrs80358009
hgdprs80358009
ensemblrs80358009
geneviewrs80358009
scholarrs80358009
googlers80358009
pharmgkbrs80358009
gwascentralrs80358009
openSNPrs80358009
23andMers80358009
SNPshotrs80358009
SNPdbers80358009
MSV3drs80358009
GWAS Ctlgrs80358009
Max Magnitude6

aka c.5467+2T>C

ClinVar
Risk rs80358009(C;C) rs80358009(G;G)
Alt rs80358009(C;C) rs80358009(G;G)
Reference Rs80358009(T;T)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41199658A>C; NC_000017.10:g.41199658A>G
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112660.1, RCV000112659.1, RCV000162889.1,