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rs80357281

From SNPedia

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


Make rs80357281(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position43051104
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357281
dbSNP (classic)rs80357281
ClinGenrs80357281
ebirs80357281
HLIrs80357281
Exacrs80357281
Gnomadrs80357281
Varsomers80357281
LitVarrs80357281
Maprs80357281
PheGenIrs80357281
Biobankrs80357281
1000 genomesrs80357281
hgdprs80357281
ensemblrs80357281
geneviewrs80357281
scholarrs80357281
googlers80357281
pharmgkbrs80357281
gwascentralrs80357281
openSNPrs80357281
23andMers80357281
SNPshotrs80357281
SNPdbers80357281
MSV3drs80357281
GWAS Ctlgrs80357281
Max Magnitude6
ClinVar
Risk rs80357281(C;C)
Alt rs80357281(C;C)
Reference Rs80357281(T;T)
Significance Pathogenic
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.41203121A>G
CLNSRC Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation UniProtKB (protein)
CLNACC RCV000048913.2, RCV000112604.2,