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rs397508981

From SNPedia

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


Make rs397508981(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092966
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508981
dbSNP (classic)rs397508981
ClinGenrs397508981
ebirs397508981
HLIrs397508981
Exacrs397508981
Gnomadrs397508981
Varsomers397508981
LitVarrs397508981
Maprs397508981
PheGenIrs397508981
Biobankrs397508981
1000 genomesrs397508981
hgdprs397508981
ensemblrs397508981
geneviewrs397508981
scholarrs397508981
googlers397508981
pharmgkbrs397508981
gwascentralrs397508981
openSNPrs397508981
23andMers397508981
SNPshotrs397508981
SNPdbers397508981
MSV3drs397508981
GWAS Ctlgrs397508981
Max Magnitude6
ClinVar
Risk rs397508981(-;-)
Alt rs397508981(-;-)
Reference Rs397508981(CTCAG;CTCAG)
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.41244983_41244987delCTGAG
CLNSRC ClinVar
CLNACC RCV000047879.2, RCV000257042.2,