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rs397508854

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar


Make rs397508854(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094205
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508854
dbSNP (classic)rs397508854
ClinGenrs397508854
ebirs397508854
HLIrs397508854
Exacrs397508854
Gnomadrs397508854
Varsomers397508854
LitVarrs397508854
Maprs397508854
PheGenIrs397508854
Biobankrs397508854
1000 genomesrs397508854
hgdprs397508854
ensemblrs397508854
geneviewrs397508854
scholarrs397508854
googlers397508854
pharmgkbrs397508854
gwascentralrs397508854
openSNPrs397508854
23andMers397508854
SNPshotrs397508854
SNPdbers397508854
MSV3drs397508854
GWAS Ctlgrs397508854
Max Magnitude6
ClinVar
Risk rs397508854(A;A)
Alt rs397508854(A;A)
Reference Rs397508854(T;T)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not provided
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 not provided
Reversed 1
HGVS NC_000017.10:g.41246222A>T
CLNSRC ClinVar
CLNACC RCV000047420.2, RCV000256823.2, RCV000481208.1,