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rs397508929

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397508929(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093517
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508929
dbSNP (classic)rs397508929
ClinGenrs397508929
ebirs397508929
HLIrs397508929
Exacrs397508929
Gnomadrs397508929
Varsomers397508929
LitVarrs397508929
Maprs397508929
PheGenIrs397508929
Biobankrs397508929
1000 genomesrs397508929
hgdprs397508929
ensemblrs397508929
geneviewrs397508929
scholarrs397508929
googlers397508929
pharmgkbrs397508929
gwascentralrs397508929
openSNPrs397508929
23andMers397508929
SNPshotrs397508929
SNPdbers397508929
MSV3drs397508929
GWAS Ctlgrs397508929
Max Magnitude6
ClinVar
Risk rs397508929(G;G) rs397508929(T;T)
Alt rs397508929(G;G) rs397508929(T;T)
Reference Rs397508929(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41245534T>A; NC_000017.10:g.41245534T>C
CLNSRC ClinVar
CLNACC RCV000047682.2, RCV000241129.2, RCV000165923.1,