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rs397508826

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397508826(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094519
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508826
dbSNP (classic)rs397508826
ClinGenrs397508826
ebirs397508826
HLIrs397508826
Exacrs397508826
Gnomadrs397508826
Varsomers397508826
LitVarrs397508826
Maprs397508826
PheGenIrs397508826
Biobankrs397508826
1000 genomesrs397508826
hgdprs397508826
ensemblrs397508826
geneviewrs397508826
scholarrs397508826
googlers397508826
pharmgkbrs397508826
gwascentralrs397508826
openSNPrs397508826
23andMers397508826
SNPshotrs397508826
SNPdbers397508826
MSV3drs397508826
GWAS Ctlgrs397508826
Max Magnitude6
ClinVar
Risk rs397508826(G;G) rs397508826(T;T)
Alt rs397508826(G;G) rs397508826(T;T)
Reference Rs397508826(A;A)
Significance Pathogenic
Disease Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41246536T>A; NC_000017.10:g.41246536T>C
CLNSRC ClinVar
CLNACC RCV000047308.2, RCV000165859.1, RCV000241023.2, RCV000465932.1,