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rs397508864

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;GGGAAAACCT) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397508864(GGGAAAACCT;GGGAAAACCT)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094137
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508864
dbSNP (classic)rs397508864
ClinGenrs397508864
ebirs397508864
HLIrs397508864
Exacrs397508864
Gnomadrs397508864
Varsomers397508864
LitVarrs397508864
Maprs397508864
PheGenIrs397508864
Biobankrs397508864
1000 genomesrs397508864
hgdprs397508864
ensemblrs397508864
geneviewrs397508864
scholarrs397508864
googlers397508864
pharmgkbrs397508864
gwascentralrs397508864
openSNPrs397508864
23andMers397508864
SNPshotrs397508864
SNPdbers397508864
MSV3drs397508864
GWAS Ctlgrs397508864
Max Magnitude6

aka c.787+597_787+606dup

ClinVar
Risk rs397508864(GGGAAAACCT;GGGAAAACCT)
Alt rs397508864(GGGAAAACCT;GGGAAAACCT)
Reference Rs397508864(;)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41246155_41246164dupAGGTTTTCCC
CLNSRC ClinVar
CLNACC RCV000047452.2,