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rs80358173

From SNPedia

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


Make rs80358173(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position43057136
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358173
dbSNP (classic)rs80358173
ClinGenrs80358173
ebirs80358173
HLIrs80358173
Exacrs80358173
Gnomadrs80358173
Varsomers80358173
LitVarrs80358173
Maprs80358173
PheGenIrs80358173
Biobankrs80358173
1000 genomesrs80358173
hgdprs80358173
ensemblrs80358173
geneviewrs80358173
scholarrs80358173
googlers80358173
pharmgkbrs80358173
gwascentralrs80358173
openSNPrs80358173
23andMers80358173
SNPshotrs80358173
SNPdbers80358173
MSV3drs80358173
GWAS Ctlgrs80358173
Max Magnitude6
ClinVar
Risk rs80358173(A;A) rs80358173(C;C) rs80358173(T;T)
Alt rs80358173(A;A) rs80358173(C;C) rs80358173(T;T)
Reference Rs80358173(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41209153C>A; NC_000017.10:g.41209153C>G; NC_000017.10:g.41209153C>T
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000258503.1, RCV000258407.1, RCV000112558.1,