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rs80358073

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6 BRCA1 variant considered pathogenic for breast cancer
(G;G) 0 common in clinvar
Make rs80358073(G;T)
Make rs80358073(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43049116
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358073
dbSNP (classic)rs80358073
ClinGenrs80358073
ebirs80358073
HLIrs80358073
Exacrs80358073
Gnomadrs80358073
Varsomers80358073
LitVarrs80358073
Maprs80358073
PheGenIrs80358073
Biobankrs80358073
1000 genomesrs80358073
hgdprs80358073
ensemblrs80358073
geneviewrs80358073
scholarrs80358073
googlers80358073
pharmgkbrs80358073
gwascentralrs80358073
openSNPrs80358073
23andMers80358073
SNPshotrs80358073
SNPdbers80358073
MSV3drs80358073
GWAS Ctlgrs80358073
Max Magnitude6
ClinVar
Risk rs80358073(A;A) rs80358073(C;C) rs80358073(T;T)
Alt rs80358073(A;A) rs80358073(C;C) rs80358073(T;T)
Reference Rs80358073(G;G)
Significance Other
Disease Breast-ovarian cancer not provided Hereditary breast and ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 not provided Hereditary breast and ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41201133C>A; NC_000017.10:g.41201133C>G; NC_000017.10:g.41201133C>T
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031248.5, RCV000160008.2, RCV000476190.1, RCV000048978.2, RCV000165857.2, RCV000258309.1, RCV000048977.2, RCV000077621.4,