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rs80358051

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80358051(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43104264
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358051
dbSNP (classic)rs80358051
ClinGenrs80358051
ebirs80358051
HLIrs80358051
Exacrs80358051
Gnomadrs80358051
Varsomers80358051
LitVarrs80358051
Maprs80358051
PheGenIrs80358051
Biobankrs80358051
1000 genomesrs80358051
hgdprs80358051
ensemblrs80358051
geneviewrs80358051
scholarrs80358051
googlers80358051
pharmgkbrs80358051
gwascentralrs80358051
openSNPrs80358051
23andMers80358051
SNPshotrs80358051
SNPdbers80358051
MSV3drs80358051
GWAS Ctlgrs80358051
Max Magnitude6
ClinVar
Risk rs80358051(G;G)
Alt rs80358051(G;G)
Reference Rs80358051(C;C)
Significance Other
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41256281G>C
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031082.5, RCV000048048.2, RCV000219090.1,