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rs397508964

From SNPedia

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


Make rs397508964(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093172
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508964
dbSNP (classic)rs397508964
ClinGenrs397508964
ebirs397508964
HLIrs397508964
Exacrs397508964
Gnomadrs397508964
Varsomers397508964
LitVarrs397508964
Maprs397508964
PheGenIrs397508964
Biobankrs397508964
1000 genomesrs397508964
hgdprs397508964
ensemblrs397508964
geneviewrs397508964
scholarrs397508964
googlers397508964
pharmgkbrs397508964
gwascentralrs397508964
openSNPrs397508964
23andMers397508964
SNPshotrs397508964
SNPdbers397508964
MSV3drs397508964
GWAS Ctlgrs397508964
Max Magnitude6
ClinVar
Risk rs397508964(-;-)
Alt rs397508964(-;-)
Reference Rs397508964(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.41245189delC
CLNSRC ClinVar
CLNACC RCV000047814.2, RCV000241350.1,