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rs397508998

From SNPedia

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


Make rs397508998(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092845
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508998
dbSNP (classic)rs397508998
ClinGenrs397508998
ebirs397508998
HLIrs397508998
Exacrs397508998
Gnomadrs397508998
Varsomers397508998
LitVarrs397508998
Maprs397508998
PheGenIrs397508998
Biobankrs397508998
1000 genomesrs397508998
hgdprs397508998
ensemblrs397508998
geneviewrs397508998
scholarrs397508998
googlers397508998
pharmgkbrs397508998
gwascentralrs397508998
openSNPrs397508998
23andMers397508998
SNPshotrs397508998
SNPdbers397508998
MSV3drs397508998
GWAS Ctlgrs397508998
Max Magnitude6
ClinVar
Risk rs397508998(-;-)
Alt rs397508998(-;-)
Reference Rs397508998(CAAA;CAAA)
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.41244862_41244865delTTTG
CLNSRC ClinVar
CLNACC RCV000047930.2, RCV000257498.2,