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rs397508900

From SNPedia

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


Make rs397508900(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093815
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508900
dbSNP (classic)rs397508900
ClinGenrs397508900
ebirs397508900
HLIrs397508900
Exacrs397508900
Gnomadrs397508900
Varsomers397508900
LitVarrs397508900
Maprs397508900
PheGenIrs397508900
Biobankrs397508900
1000 genomesrs397508900
hgdprs397508900
ensemblrs397508900
geneviewrs397508900
scholarrs397508900
googlers397508900
pharmgkbrs397508900
gwascentralrs397508900
openSNPrs397508900
23andMers397508900
SNPshotrs397508900
SNPdbers397508900
MSV3drs397508900
GWAS Ctlgrs397508900
Max Magnitude6

aka c.787+929del

ClinVar
Risk rs397508900(-;-)
Alt rs397508900(-;-)
Reference Rs397508900(A;A)
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.41245832delT
CLNSRC ClinVar
CLNACC RCV000047567.2, RCV000257674.2,