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rs80358163

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 Normal
(A;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80358163(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43104968
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358163
dbSNP (classic)rs80358163
ClinGenrs80358163
ebirs80358163
HLIrs80358163
Exacrs80358163
Gnomadrs80358163
Varsomers80358163
LitVarrs80358163
Maprs80358163
PheGenIrs80358163
Biobankrs80358163
1000 genomesrs80358163
hgdprs80358163
ensemblrs80358163
geneviewrs80358163
scholarrs80358163
googlers80358163
pharmgkbrs80358163
gwascentralrs80358163
openSNPrs80358163
23andMers80358163
SNPshotrs80358163
SNPdbers80358163
MSV3drs80358163
GWAS Ctlgrs80358163
Max Magnitude6
ClinVar
Risk rs80358163(G;G)
Alt rs80358163(G;G)
Reference Rs80358163(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41256985T>C
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031031.7, RCV000047726.6, RCV000131900.2, RCV000167772.5,