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rs397508871

From SNPedia

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


Make rs397508871(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094126
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508871
dbSNP (classic)rs397508871
ClinGenrs397508871
ebirs397508871
HLIrs397508871
Exacrs397508871
Gnomadrs397508871
Varsomers397508871
LitVarrs397508871
Maprs397508871
PheGenIrs397508871
Biobankrs397508871
1000 genomesrs397508871
hgdprs397508871
ensemblrs397508871
geneviewrs397508871
scholarrs397508871
googlers397508871
pharmgkbrs397508871
gwascentralrs397508871
openSNPrs397508871
23andMers397508871
SNPshotrs397508871
SNPdbers397508871
MSV3drs397508871
GWAS Ctlgrs397508871
Max Magnitude6
ClinVar
Risk rs397508871(-;-)
Alt rs397508871(-;-)
Reference Rs397508871(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246143delC
CLNSRC ClinVar
CLNACC RCV000047466.2, RCV000257161.2,