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rs397508889

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397508889(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093929
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508889
dbSNP (classic)rs397508889
ClinGenrs397508889
ebirs397508889
HLIrs397508889
Exacrs397508889
Gnomadrs397508889
Varsomers397508889
LitVarrs397508889
Maprs397508889
PheGenIrs397508889
Biobankrs397508889
1000 genomesrs397508889
hgdprs397508889
ensemblrs397508889
geneviewrs397508889
scholarrs397508889
googlers397508889
pharmgkbrs397508889
gwascentralrs397508889
openSNPrs397508889
23andMers397508889
SNPshotrs397508889
SNPdbers397508889
MSV3drs397508889
GWAS Ctlgrs397508889
Max Magnitude6

aka c.787+814dup

ClinVar
Risk rs397508889(A;A)
Alt rs397508889(A;A)
Reference Rs397508889(-;-)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245947dupT
CLNSRC ClinVar
CLNACC RCV000047537.2, RCV000256954.2,