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rs80358178

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6 BRCA1 variant considered pathogenic for breast cancer
(G;G) 0 Normal


Make rs80358178(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091434
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358178
dbSNP (classic)rs80358178
ClinGenrs80358178
ebirs80358178
HLIrs80358178
Exacrs80358178
Gnomadrs80358178
Varsomers80358178
LitVarrs80358178
Maprs80358178
PheGenIrs80358178
Biobankrs80358178
1000 genomesrs80358178
hgdprs80358178
ensemblrs80358178
geneviewrs80358178
scholarrs80358178
googlers80358178
pharmgkbrs80358178
gwascentralrs80358178
openSNPrs80358178
23andMers80358178
SNPshotrs80358178
SNPdbers80358178
MSV3drs80358178
GWAS Ctlgrs80358178
Max Magnitude6

aka c.4096+1G>A

ClinVar
Risk rs80358178(A;A)
Alt rs80358178(A;A)
Reference Rs80358178(G;G)
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.41243451C>T
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031146.4, RCV000048441.6, RCV000162871.2, RCV000195364.3,