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rs397508992

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397508992(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092865
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508992
dbSNP (classic)rs397508992
ClinGenrs397508992
ebirs397508992
HLIrs397508992
Exacrs397508992
Gnomadrs397508992
Varsomers397508992
LitVarrs397508992
Maprs397508992
PheGenIrs397508992
Biobankrs397508992
1000 genomesrs397508992
hgdprs397508992
ensemblrs397508992
geneviewrs397508992
scholarrs397508992
googlers397508992
pharmgkbrs397508992
gwascentralrs397508992
openSNPrs397508992
23andMers397508992
SNPshotrs397508992
SNPdbers397508992
MSV3drs397508992
GWAS Ctlgrs397508992
Max Magnitude6

aka c.788-1834dup

ClinVar
Risk rs397508992(T;T)
Alt rs397508992(T;T)
Reference Rs397508992(-;-)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41244883dupA
CLNSRC ClinVar
CLNACC RCV000047915.2,