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rs397508974

From SNPedia

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


Make rs397508974(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093013
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508974
dbSNP (classic)rs397508974
ClinGenrs397508974
ebirs397508974
HLIrs397508974
Exacrs397508974
Gnomadrs397508974
Varsomers397508974
LitVarrs397508974
Maprs397508974
PheGenIrs397508974
Biobankrs397508974
1000 genomesrs397508974
hgdprs397508974
ensemblrs397508974
geneviewrs397508974
scholarrs397508974
googlers397508974
pharmgkbrs397508974
gwascentralrs397508974
openSNPrs397508974
23andMers397508974
SNPshotrs397508974
SNPdbers397508974
MSV3drs397508974
GWAS Ctlgrs397508974
Max Magnitude6

BRCA1, c.2517_2518delCA (p.His839Glnfs)

ClinVar
Risk rs397508974(-;-)
Alt rs397508974(-;-)
Reference Rs397508974(CA;CA)
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.41245030_41245031delTG
CLNSRC ClinVar
CLNACC RCV000047865.2, RCV000077521.4,