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rs397508873

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;ATAAATTAAA) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397508873(ATAAATTAAA;ATAAATTAAA)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094022
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508873
dbSNP (classic)rs397508873
ClinGenrs397508873
ebirs397508873
HLIrs397508873
Exacrs397508873
Gnomadrs397508873
Varsomers397508873
LitVarrs397508873
Maprs397508873
PheGenIrs397508873
Biobankrs397508873
1000 genomesrs397508873
hgdprs397508873
ensemblrs397508873
geneviewrs397508873
scholarrs397508873
googlers397508873
pharmgkbrs397508873
gwascentralrs397508873
openSNPrs397508873
23andMers397508873
SNPshotrs397508873
SNPdbers397508873
MSV3drs397508873
GWAS Ctlgrs397508873
Max Magnitude6

aka c.787+712_787+721dup

ClinVar
Risk rs397508873(ATAAATTAAA;ATAAATTAAA)
Alt rs397508873(ATAAATTAAA;ATAAATTAAA)
Reference Rs397508873(-;-)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41246040_41246049dupTTTAATTTAT
CLNSRC ClinVar
CLNACC RCV000047497.2,