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rs397508961

From SNPedia

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


Make rs397508961(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093177
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508961
dbSNP (classic)rs397508961
ClinGenrs397508961
ebirs397508961
HLIrs397508961
Exacrs397508961
Gnomadrs397508961
Varsomers397508961
LitVarrs397508961
Maprs397508961
PheGenIrs397508961
Biobankrs397508961
1000 genomesrs397508961
hgdprs397508961
ensemblrs397508961
geneviewrs397508961
scholarrs397508961
googlers397508961
pharmgkbrs397508961
gwascentralrs397508961
openSNPrs397508961
23andMers397508961
SNPshotrs397508961
SNPdbers397508961
MSV3drs397508961
GWAS Ctlgrs397508961
Max Magnitude6
ClinVar
Risk rs397508961(A;A)
Alt rs397508961(A;A)
Reference Rs397508961(T;T)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245194A>T
CLNSRC ClinVar
CLNACC RCV000047811.3, RCV000257066.2,