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rs397508926

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397508926(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093562
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508926
dbSNP (classic)rs397508926
ClinGenrs397508926
ebirs397508926
HLIrs397508926
Exacrs397508926
Gnomadrs397508926
Varsomers397508926
LitVarrs397508926
Maprs397508926
PheGenIrs397508926
Biobankrs397508926
1000 genomesrs397508926
hgdprs397508926
ensemblrs397508926
geneviewrs397508926
scholarrs397508926
googlers397508926
pharmgkbrs397508926
gwascentralrs397508926
openSNPrs397508926
23andMers397508926
SNPshotrs397508926
SNPdbers397508926
MSV3drs397508926
GWAS Ctlgrs397508926
Max Magnitude6
ClinVar
Risk rs397508926(T;T)
Alt rs397508926(T;T)
Reference Rs397508926(C;C)
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.41245579G>A
CLNSRC ClinVar
CLNACC RCV000047667.2, RCV000256717.2,