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rs80357064

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80357064(G;G)
Make rs80357064(G;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43106478
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357064
dbSNP (classic)rs80357064
ClinGenrs80357064
ebirs80357064
HLIrs80357064
Exacrs80357064
Gnomadrs80357064
Varsomers80357064
LitVarrs80357064
Maprs80357064
PheGenIrs80357064
Biobankrs80357064
1000 genomesrs80357064
hgdprs80357064
ensemblrs80357064
geneviewrs80357064
scholarrs80357064
googlers80357064
pharmgkbrs80357064
gwascentralrs80357064
openSNPrs80357064
23andMers80357064
SNPshotrs80357064
SNPdbers80357064
MSV3drs80357064
GWAS Ctlgrs80357064
Max Magnitude0
OMIM113705
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80357064(C;C) rs80357064(G;G)
Alt rs80357064(C;C) rs80357064(G;G)
Reference Rs80357064(T;T)
Significance Other
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41258495A>C; NC_000017.10:g.41258495A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019228.10, RCV000047634.5, RCV000129894.3, RCV000235121.2, RCV000047633.2, RCV000083174.4, RCV000130787.2,