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rs80357164

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar
Make rs80357164(A;A)
Make rs80357164(A;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43115745
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357164
dbSNP (classic)rs80357164
ClinGenrs80357164
ebirs80357164
HLIrs80357164
Exacrs80357164
Gnomadrs80357164
Varsomers80357164
LitVarrs80357164
Maprs80357164
PheGenIrs80357164
Biobankrs80357164
1000 genomesrs80357164
hgdprs80357164
ensemblrs80357164
geneviewrs80357164
scholarrs80357164
googlers80357164
pharmgkbrs80357164
gwascentralrs80357164
openSNPrs80357164
23andMers80357164
SNPshotrs80357164
SNPdbers80357164
MSV3drs80357164
GWAS Ctlgrs80357164
Max Magnitude6
ClinVar
Risk rs80357164(A;A) rs80357164(C;C) rs80357164(G;G)
Alt rs80357164(A;A) rs80357164(C;C) rs80357164(G;G)
Reference Rs80357164(T;T)
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.41267762A>C; NC_000017.10:g.41267762A>G; NC_000017.10:g.41267762A>T
CLNSRC Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
CLNACC RCV000047367.2, RCV000258451.1, RCV000047366.2, RCV000077483.5, RCV000047365.2, RCV000111803.1,