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rs80358064

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80358064(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position43115723
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358064
dbSNP (classic)rs80358064
ClinGenrs80358064
ebirs80358064
HLIrs80358064
Exacrs80358064
Gnomadrs80358064
Varsomers80358064
LitVarrs80358064
Maprs80358064
PheGenIrs80358064
Biobankrs80358064
1000 genomesrs80358064
hgdprs80358064
ensemblrs80358064
geneviewrs80358064
scholarrs80358064
googlers80358064
pharmgkbrs80358064
gwascentralrs80358064
openSNPrs80358064
23andMers80358064
SNPshotrs80358064
SNPdbers80358064
MSV3drs80358064
GWAS Ctlgrs80358064
Max Magnitude6
ClinVar
Risk rs80358064(C;C)
Alt rs80358064(C;C)
Reference Rs80358064(A;A)
Significance Other
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41267740T>G
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047430.2, RCV000111851.1,