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rs80357107

From SNPedia

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


Make rs80357107(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43045757
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357107
dbSNP (classic)rs80357107
ClinGenrs80357107
ebirs80357107
HLIrs80357107
Exacrs80357107
Gnomadrs80357107
Varsomers80357107
LitVarrs80357107
Maprs80357107
PheGenIrs80357107
Biobankrs80357107
1000 genomesrs80357107
hgdprs80357107
ensemblrs80357107
geneviewrs80357107
scholarrs80357107
googlers80357107
pharmgkbrs80357107
gwascentralrs80357107
openSNPrs80357107
23andMers80357107
SNPshotrs80357107
SNPdbers80357107
MSV3drs80357107
GWAS Ctlgrs80357107
Max Magnitude6
ClinVar
Risk rs80357107(A;A) rs80357107(G;G)
Alt rs80357107(A;A) rs80357107(G;G)
Reference Rs80357107(T;T)
Significance Other
Disease Breast-ovarian cancer Familial cancer of breast not provided
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast not provided
Reversed 1
HGVS NC_000017.10:g.41197774A>C; NC_000017.10:g.41197774A>T
CLNSRC Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
CLNACC RCV000241502.1, RCV000049032.2, RCV000077628.4, RCV000480633.1,