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rs397508969

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs397508969(-;A)
Make rs397508969(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093090
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508969
dbSNP (classic)rs397508969
ClinGenrs397508969
ebirs397508969
HLIrs397508969
Exacrs397508969
Gnomadrs397508969
Varsomers397508969
LitVarrs397508969
Maprs397508969
PheGenIrs397508969
Biobankrs397508969
1000 genomesrs397508969
hgdprs397508969
ensemblrs397508969
geneviewrs397508969
scholarrs397508969
googlers397508969
pharmgkbrs397508969
gwascentralrs397508969
openSNPrs397508969
23andMers397508969
SNPshotrs397508969
SNPdbers397508969
MSV3drs397508969
GWAS Ctlgrs397508969
Max Magnitude0

aka c.2440_2441insA; pathogenicity not provided in ClinVar, but based on similar BRCA1 mutations, this could be potentially be a pathogenic breast cancer mutation

ClinVar
Risk rs397508969(A;A)
Alt rs397508969(A;A)
Reference Rs397508969(-;-)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41245107_41245108insT
CLNSRC ClinVar
CLNACC RCV000047841.2,