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rs397508931

From SNPedia

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


Make rs397508931(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093502
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508931
dbSNP (classic)rs397508931
ClinGenrs397508931
ebirs397508931
HLIrs397508931
Exacrs397508931
Gnomadrs397508931
Varsomers397508931
LitVarrs397508931
Maprs397508931
PheGenIrs397508931
Biobankrs397508931
1000 genomesrs397508931
hgdprs397508931
ensemblrs397508931
geneviewrs397508931
scholarrs397508931
googlers397508931
pharmgkbrs397508931
gwascentralrs397508931
openSNPrs397508931
23andMers397508931
SNPshotrs397508931
SNPdbers397508931
MSV3drs397508931
GWAS Ctlgrs397508931
Max Magnitude6

aka c.787+1241_787+1242del

ClinVar
Risk rs397508931(-;-)
Alt rs397508931(-;-)
Reference Rs397508931(TG;TG)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41245519_41245520delCA
CLNSRC ClinVar
CLNACC RCV000047688.2,