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rs397508962

From SNPedia

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


Make rs397508962(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093175
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508962
dbSNP (classic)rs397508962
ClinGenrs397508962
ebirs397508962
HLIrs397508962
Exacrs397508962
Gnomadrs397508962
Varsomers397508962
LitVarrs397508962
Maprs397508962
PheGenIrs397508962
Biobankrs397508962
1000 genomesrs397508962
hgdprs397508962
ensemblrs397508962
geneviewrs397508962
scholarrs397508962
googlers397508962
pharmgkbrs397508962
gwascentralrs397508962
openSNPrs397508962
23andMers397508962
SNPshotrs397508962
SNPdbers397508962
MSV3drs397508962
GWAS Ctlgrs397508962
Max Magnitude6

aka c.787+1569del

ClinVar
Risk rs397508962(-;-)
Alt rs397508962(-;-)
Reference Rs397508962(C;C)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41245192delG
CLNSRC ClinVar
CLNACC RCV000047812.2,